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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Point Mutations in Exon 1B of <italic>APC</italic> Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant</title><author><name sortKey="Li, Jun" sort="Li, Jun" uniqKey="Li J" first="Jun" last="Li">Jun Li</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Woods, Susan L" sort="Woods, Susan L" uniqKey="Woods S" first="Susan L." last="Woods">Susan L. Woods</name><affiliation><nlm:aff id="aff2">School of Medicine, University of Adelaide and Cancer Theme, SAHMRI, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Healey, Sue" sort="Healey, Sue" uniqKey="Healey S" first="Sue" last="Healey">Sue Healey</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Beesley, Jonathan" sort="Beesley, Jonathan" uniqKey="Beesley J" first="Jonathan" last="Beesley">Jonathan Beesley</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Chen, Xiaoqing" sort="Chen, Xiaoqing" uniqKey="Chen X" first="Xiaoqing" last="Chen">Xiaoqing Chen</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Lee, Jason S" sort="Lee, Jason S" uniqKey="Lee J" first="Jason S." last="Lee">Jason S. Lee</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Sivakumaran, Haran" sort="Sivakumaran, Haran" uniqKey="Sivakumaran H" first="Haran" last="Sivakumaran">Haran Sivakumaran</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Wayte, Nicci" sort="Wayte, Nicci" uniqKey="Wayte N" first="Nicci" last="Wayte">Nicci Wayte</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Nones, Katia" sort="Nones, Katia" uniqKey="Nones K" first="Katia" last="Nones">Katia Nones</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Waterfall, Joshua J" sort="Waterfall, Joshua J" uniqKey="Waterfall J" first="Joshua J." last="Waterfall">Joshua J. Waterfall</name><affiliation><nlm:aff id="aff3">Genetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Pearson, John" sort="Pearson, John" uniqKey="Pearson J" first="John" last="Pearson">John Pearson</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD 4072, Australia</nlm:aff></affiliation></author><author><name sortKey="Patch, Anne Marie" sort="Patch, Anne Marie" uniqKey="Patch A" first="Anne-Marie" last="Patch">Anne-Marie Patch</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Senz, Janine" sort="Senz, Janine" uniqKey="Senz J" first="Janine" last="Senz">Janine Senz</name><affiliation><nlm:aff id="aff5">Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada</nlm:aff></affiliation></author><author><name sortKey="Ferreira, Manuel A" sort="Ferreira, Manuel A" uniqKey="Ferreira M" first="Manuel A." last="Ferreira">Manuel A. Ferreira</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Kaurah, Pardeep" sort="Kaurah, Pardeep" uniqKey="Kaurah P" first="Pardeep" last="Kaurah">Pardeep Kaurah</name><affiliation><nlm:aff id="aff6">Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada</nlm:aff></affiliation></author><author><name sortKey="Mackenzie, Robertson" sort="Mackenzie, Robertson" uniqKey="Mackenzie R" first="Robertson" last="Mackenzie">Robertson Mackenzie</name><affiliation><nlm:aff id="aff7">Department of Molecular Oncology, BC Cancer Research Centre, Vancouver, BC V5Z 1L3, Canada</nlm:aff></affiliation></author><author><name sortKey="Heravi Moussavi, Alireza" sort="Heravi Moussavi, Alireza" uniqKey="Heravi Moussavi A" first="Alireza" last="Heravi-Moussavi">Alireza Heravi-Moussavi</name><affiliation><nlm:aff id="aff8">Canada’s Michael Smith Genome Sciences Centre, Vancouver, BC V5Z 4S6, Canada</nlm:aff></affiliation></author><author><name sortKey="Hansford, Samantha" sort="Hansford, Samantha" uniqKey="Hansford S" first="Samantha" last="Hansford">Samantha Hansford</name><affiliation><nlm:aff id="aff5">Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada</nlm:aff></affiliation></author><author><name sortKey="Lannagan, Tamsin R M" sort="Lannagan, Tamsin R M" uniqKey="Lannagan T" first="Tamsin R. M." last="Lannagan">Tamsin R. M. Lannagan</name><affiliation><nlm:aff id="aff2">School of Medicine, University of Adelaide and Cancer Theme, SAHMRI, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B." last="Spurdle">Amanda B. Spurdle</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Simpson, Peter T" sort="Simpson, Peter T" uniqKey="Simpson P" first="Peter T." last="Simpson">Peter T. Simpson</name><affiliation><nlm:aff id="aff9">UQ Centre for Clinical Research, The University of Queensland, Brisbane, QLD 4029, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">School of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia</nlm:aff></affiliation></author><author><name sortKey="Da Silva, Leonard" sort="Da Silva, Leonard" uniqKey="Da Silva L" first="Leonard" last="Da Silva">Leonard Da Silva</name><affiliation><nlm:aff id="aff9">UQ Centre for Clinical Research, The University of Queensland, Brisbane, QLD 4029, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">School of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia</nlm:aff></affiliation></author><author><name sortKey="Lakhani, Sunil R" sort="Lakhani, Sunil R" uniqKey="Lakhani S" first="Sunil R." last="Lakhani">Sunil R. Lakhani</name><affiliation><nlm:aff id="aff9">UQ Centre for Clinical Research, The University of Queensland, Brisbane, QLD 4029, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">School of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff11">Anatomical Pathology, Pathology Queensland, Royal Brisbane and Women’s Hospital, Brisbane, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Clouston, Andrew D" sort="Clouston, Andrew D" uniqKey="Clouston A" first="Andrew D." last="Clouston">Andrew D. Clouston</name><affiliation><nlm:aff id="aff12">Centre for Liver Disease Research, TRI Building, University of Queensland, Woolloongabba, QLD 4102, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff13">Envoi Specialist Pathologists, Bishop Street, Kelvin Grove, QLD 4059, Australia</nlm:aff></affiliation></author><author><name sortKey="Bettington, Mark" sort="Bettington, Mark" uniqKey="Bettington M" first="Mark" last="Bettington">Mark Bettington</name><affiliation><nlm:aff id="aff10">School of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff13">Envoi Specialist Pathologists, Bishop Street, Kelvin Grove, QLD 4059, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">The Conjoint Gastroenterology Laboratory, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Grimpen, Florian" sort="Grimpen, Florian" uniqKey="Grimpen F" first="Florian" last="Grimpen">Florian Grimpen</name><affiliation><nlm:aff id="aff15">Departments of Gastroenterology and Hepatology, Royal Brisbane and Women’s Hospital, Brisbane, QLD 4006, Australia</nlm:aff></affiliation></author><author><name sortKey="Busuttil, Rita A" sort="Busuttil, Rita A" uniqKey="Busuttil R" first="Rita A." last="Busuttil">Rita A. Busuttil</name><affiliation><nlm:aff id="aff16">Cancer Genetics and Genomics Laboratory, Peter MacCallum Cancer Centre, Locked Bag 1, Melbourne, VIC 8006, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff17">Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, VIC 3010, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff18">Department of Medicine, Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Di Costanzo, Natasha" sort="Di Costanzo, Natasha" uniqKey="Di Costanzo N" first="Natasha" last="Di Costanzo">Natasha Di Costanzo</name><affiliation><nlm:aff id="aff16">Cancer Genetics and Genomics Laboratory, Peter MacCallum Cancer Centre, Locked Bag 1, Melbourne, VIC 8006, Australia</nlm:aff></affiliation></author><author><name sortKey="Boussioutas, Alex" sort="Boussioutas, Alex" uniqKey="Boussioutas A" first="Alex" last="Boussioutas">Alex Boussioutas</name><affiliation><nlm:aff id="aff16">Cancer Genetics and Genomics Laboratory, Peter MacCallum Cancer Centre, Locked Bag 1, Melbourne, VIC 8006, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff17">Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, VIC 3010, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff18">Department of Medicine, Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC 3010, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff19">Department of Gastroenterology, Royal Melbourne Hospital, Parkville, VIC 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Jeanjean, Marie" sort="Jeanjean, Marie" uniqKey="Jeanjean M" first="Marie" last="Jeanjean">Marie Jeanjean</name><affiliation><nlm:aff id="aff20">Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, QC H3T 1E2, Canada</nlm:aff></affiliation></author><author><name sortKey="Chong, George" sort="Chong, George" uniqKey="Chong G" first="George" last="Chong">George Chong</name><affiliation><nlm:aff id="aff21">Molecular Pathology Centre, Department of Pathology, Jewish General Hospital - McGill University, Montreal, QC H3T 1E2, Canada</nlm:aff></affiliation></author><author><name sortKey="Fabre, Aurelie" sort="Fabre, Aurelie" uniqKey="Fabre A" first="Aurélie" last="Fabre">Aurélie Fabre</name><affiliation><nlm:aff id="aff22">AP-HM Timone, Medical Genetics Department, 13385 Marseille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff23">Aix Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff24">Oncology Unit, Generale de Sante, Clairval Hospital, 13009 Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Olschwang, Sylviane" sort="Olschwang, Sylviane" uniqKey="Olschwang S" first="Sylviane" last="Olschwang">Sylviane Olschwang</name><affiliation><nlm:aff id="aff22">AP-HM Timone, Medical Genetics Department, 13385 Marseille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff23">Aix Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff24">Oncology Unit, Generale de Sante, Clairval Hospital, 13009 Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Faulkner, Geoffrey J" sort="Faulkner, Geoffrey J" uniqKey="Faulkner G" first="Geoffrey J." last="Faulkner">Geoffrey J. Faulkner</name><affiliation><nlm:aff id="aff25">Mater Research Institute, University of Queensland, TRI Building, Woolloongabba, QLD 4102, Australia</nlm:aff></affiliation></author><author><name sortKey="Bellos, Evangelos" sort="Bellos, Evangelos" uniqKey="Bellos E" first="Evangelos" last="Bellos">Evangelos Bellos</name><affiliation><nlm:aff id="aff4">Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD 4072, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff26">Department of Genomics of Common Disease, Imperial College London, London W12 0NN, UK</nlm:aff></affiliation></author><author><name sortKey="Coin, Lachlan" sort="Coin, Lachlan" uniqKey="Coin L" first="Lachlan" last="Coin">Lachlan Coin</name><affiliation><nlm:aff id="aff4">Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD 4072, Australia</nlm:aff></affiliation></author><author><name sortKey="Rioux, Kevin" sort="Rioux, Kevin" uniqKey="Rioux K" first="Kevin" last="Rioux">Kevin Rioux</name><affiliation><nlm:aff id="aff27">Department of Medicine, Division of Gastroenterology, Department of Microbiology and Infectious Diseases, Gastrointestinal Research Group, University of Calgary, Calgary, AB T2N 4N1, Canada</nlm:aff></affiliation></author><author><name sortKey="Bathe, Oliver F" sort="Bathe, Oliver F" uniqKey="Bathe O" first="Oliver F." last="Bathe">Oliver F. Bathe</name><affiliation><nlm:aff id="aff28">Departments of Surgery and Oncology, University of Calgary, Calgary, AB T2N 4N1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff29">Division of Surgical Oncology, Tom Baker Cancer Centre, 1331 29<sup>th</sup> St NW, Calgary, AB T2N 4N1, Canada</nlm:aff></affiliation></author><author><name sortKey="Wen, Xiaogang" sort="Wen, Xiaogang" uniqKey="Wen X" first="Xiaogang" last="Wen">Xiaogang Wen</name><affiliation><nlm:aff id="aff30">Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)/Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto 4200-135, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="aff31">Centro Hospitalar Vila Nova de Gaia/Espinho, Porto 4430-027, Portugal</nlm:aff></affiliation></author><author><name sortKey="Martin, Hilary C" sort="Martin, Hilary C" uniqKey="Martin H" first="Hilary C." last="Martin">Hilary C. Martin</name><affiliation><nlm:aff id="aff32">Wellcome Trust Centre for Human Genetics, Oxford OX3 7BN, UK</nlm:aff></affiliation></author><author><name sortKey="Neklason, Deborah W" sort="Neklason, Deborah W" uniqKey="Neklason D" first="Deborah W." last="Neklason">Deborah W. Neklason</name><affiliation><nlm:aff id="aff33">Department of Internal Medicine, Huntsman Cancer Institute at University of Utah, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Davis, Sean R" sort="Davis, Sean R" uniqKey="Davis S" first="Sean R." last="Davis">Sean R. Davis</name><affiliation><nlm:aff id="aff3">Genetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Walker, Robert L" sort="Walker, Robert L" uniqKey="Walker R" first="Robert L." last="Walker">Robert L. Walker</name><affiliation><nlm:aff id="aff3">Genetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Calzone, Kathleen A" sort="Calzone, Kathleen A" uniqKey="Calzone K" first="Kathleen A." last="Calzone">Kathleen A. Calzone</name><affiliation><nlm:aff id="aff3">Genetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Avital, Itzhak" sort="Avital, Itzhak" uniqKey="Avital I" first="Itzhak" last="Avital">Itzhak Avital</name><affiliation><nlm:aff id="aff34">Department of Surgery, Saint Peter’s University Hospital, Rutgers University, New Brunswick, NJ 08901, USA</nlm:aff></affiliation></author><author><name sortKey="Heller, Theo" sort="Heller, Theo" uniqKey="Heller T" first="Theo" last="Heller">Theo Heller</name><affiliation><nlm:aff id="aff35">Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Koh, Christopher" sort="Koh, Christopher" uniqKey="Koh C" first="Christopher" last="Koh">Christopher Koh</name><affiliation><nlm:aff id="aff35">Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Pineda, Marbin" sort="Pineda, Marbin" uniqKey="Pineda M" first="Marbin" last="Pineda">Marbin Pineda</name><affiliation><nlm:aff id="aff3">Genetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Rudloff, Udo" sort="Rudloff, Udo" uniqKey="Rudloff U" first="Udo" last="Rudloff">Udo Rudloff</name><affiliation><nlm:aff id="aff36">Thoracic and Gastrointestinal Oncology Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Quezado, Martha" sort="Quezado, Martha" uniqKey="Quezado M" first="Martha" last="Quezado">Martha Quezado</name><affiliation><nlm:aff id="aff37">Laboratory of Pathology, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Pichurin, Pavel N" sort="Pichurin, Pavel N" uniqKey="Pichurin P" first="Pavel N." last="Pichurin">Pavel N. Pichurin</name><affiliation><nlm:aff id="aff38">Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA</nlm:aff></affiliation></author><author><name sortKey="Hulick, Peter J" sort="Hulick, Peter J" uniqKey="Hulick P" first="Peter J." last="Hulick">Peter J. Hulick</name><affiliation><nlm:aff id="aff39">Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL 60201, USA</nlm:aff></affiliation></author><author><name sortKey="Weissman, Scott M" sort="Weissman, Scott M" uniqKey="Weissman S" first="Scott M." last="Weissman">Scott M. Weissman</name><affiliation><nlm:aff id="aff40">GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA</nlm:aff></affiliation></author><author><name sortKey="Newlin, Anna" sort="Newlin, Anna" uniqKey="Newlin A" first="Anna" last="Newlin">Anna Newlin</name><affiliation><nlm:aff id="aff39">Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL 60201, USA</nlm:aff></affiliation></author><author><name sortKey="Rubinstein, Wendy S" sort="Rubinstein, Wendy S" uniqKey="Rubinstein W" first="Wendy S." last="Rubinstein">Wendy S. Rubinstein</name><affiliation><nlm:aff id="aff41">National Center for Biotechnology Information (NCBI), National Library of Medicine (NLM), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Sampson, Jone E" sort="Sampson, Jone E" uniqKey="Sampson J" first="Jone E." last="Sampson">Jone E. Sampson</name><affiliation><nlm:aff id="aff42">Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA</nlm:aff></affiliation></author><author><name sortKey="Hamman, Kelly" sort="Hamman, Kelly" uniqKey="Hamman K" first="Kelly" last="Hamman">Kelly Hamman</name><affiliation><nlm:aff id="aff42">Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David" sort="Goldgar, David" uniqKey="Goldgar D" first="David" last="Goldgar">David Goldgar</name><affiliation><nlm:aff id="aff43">Department of Dermatology and Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Poplawski, Nicola" sort="Poplawski, Nicola" uniqKey="Poplawski N" first="Nicola" last="Poplawski">Nicola Poplawski</name><affiliation><nlm:aff id="aff44">Adult Genetics Unit, SA Pathology at the Women’s and Children’s Hospital, North Adelaide, SA 5006, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff45">University Department of Paediatrics, University of Adelaide, Adelaide, SA 5005, Australia</nlm:aff></affiliation></author><author><name sortKey="Phillips, Kerry" sort="Phillips, Kerry" uniqKey="Phillips K" first="Kerry" last="Phillips">Kerry Phillips</name><affiliation><nlm:aff id="aff44">Adult Genetics Unit, SA Pathology at the Women’s and Children’s Hospital, North Adelaide, SA 5006, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff45">University Department of Paediatrics, University of Adelaide, Adelaide, SA 5005, Australia</nlm:aff></affiliation></author><author><name sortKey="Schofield, Lyn" sort="Schofield, Lyn" uniqKey="Schofield L" first="Lyn" last="Schofield">Lyn Schofield</name><affiliation><nlm:aff id="aff46">Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA 6008, Australia</nlm:aff></affiliation></author><author><name sortKey="Armstrong, Jacqueline" sort="Armstrong, Jacqueline" uniqKey="Armstrong J" first="Jacqueline" last="Armstrong">Jacqueline Armstrong</name><affiliation><nlm:aff id="aff44">Adult Genetics Unit, SA Pathology at the Women’s and Children’s Hospital, North Adelaide, SA 5006, Australia</nlm:aff></affiliation></author><author><name sortKey="Kiraly Borri, Cathy" sort="Kiraly Borri, Cathy" uniqKey="Kiraly Borri C" first="Cathy" last="Kiraly-Borri">Cathy Kiraly-Borri</name><affiliation><nlm:aff id="aff46">Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA 6008, Australia</nlm:aff></affiliation></author><author><name sortKey="Suthers, Graeme K" sort="Suthers, Graeme K" uniqKey="Suthers G" first="Graeme K." last="Suthers">Graeme K. Suthers</name><affiliation><nlm:aff id="aff45">University Department of Paediatrics, University of Adelaide, Adelaide, SA 5005, Australia</nlm:aff></affiliation></author><author><name sortKey="Huntsman, David G" sort="Huntsman, David G" uniqKey="Huntsman D" first="David G." last="Huntsman">David G. Huntsman</name><affiliation><nlm:aff id="aff7">Department of Molecular Oncology, BC Cancer Research Centre, Vancouver, BC V5Z 1L3, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff47">Department of Pathology and Obstetrics and Gynaecology, University of British Columbia, Vancouver, BC V6Z 2K5, Canada</nlm:aff></affiliation></author><author><name sortKey="Foulkes, William D" sort="Foulkes, William D" uniqKey="Foulkes W" first="William D." last="Foulkes">William D. Foulkes</name><affiliation><nlm:aff id="aff20">Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, QC H3T 1E2, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff48">Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada</nlm:aff></affiliation></author><author><name sortKey="Carneiro, Fatima" sort="Carneiro, Fatima" uniqKey="Carneiro F" first="Fatima" last="Carneiro">Fatima Carneiro</name><affiliation><nlm:aff id="aff30">Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)/Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto 4200-135, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="aff49">Medical Faculty of the University of Porto/Centro Hospitalar São João, Porto 4200-319, Portugal</nlm:aff></affiliation></author><author><name sortKey="Lindor, Noralane M" sort="Lindor, Noralane M" uniqKey="Lindor N" first="Noralane M." last="Lindor">Noralane M. Lindor</name><affiliation><nlm:aff id="aff50">Department of Health Sciences Research, Mayo Clinic, Scottsdale, AZ 85259, USA</nlm:aff></affiliation></author><author><name sortKey="Edwards, Stacey L" sort="Edwards, Stacey L" uniqKey="Edwards S" first="Stacey L." last="Edwards">Stacey L. Edwards</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="French, Juliet D" sort="French, Juliet D" uniqKey="French J" first="Juliet D." last="French">Juliet D. French</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Waddell, Nicola" sort="Waddell, Nicola" uniqKey="Waddell N" first="Nicola" last="Waddell">Nicola Waddell</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD 4072, Australia</nlm:aff></affiliation></author><author><name sortKey="Meltzer, Paul S" sort="Meltzer, Paul S" uniqKey="Meltzer P" first="Paul S." last="Meltzer">Paul S. Meltzer</name><affiliation><nlm:aff id="aff3">Genetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Worthley, Daniel L" sort="Worthley, Daniel L" uniqKey="Worthley D" first="Daniel L." last="Worthley">Daniel L. Worthley</name><affiliation><nlm:aff id="aff2">School of Medicine, University of Adelaide and Cancer Theme, SAHMRI, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Schrader, Kasmintan A" sort="Schrader, Kasmintan A" uniqKey="Schrader K" first="Kasmintan A." last="Schrader">Kasmintan A. Schrader</name><affiliation><nlm:aff id="aff6">Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Department of Molecular Oncology, BC Cancer Research Centre, Vancouver, BC V5Z 1L3, Canada</nlm:aff></affiliation></author><author><name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27087319</idno><idno type="pmc">4863475</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863475</idno><idno type="RBID">PMC:4863475</idno><idno type="doi">10.1016/j.ajhg.2016.03.001</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">001693</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001693</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Point Mutations in Exon 1B of <italic>APC</italic> Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant</title><author><name sortKey="Li, Jun" sort="Li, Jun" uniqKey="Li J" first="Jun" last="Li">Jun Li</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Woods, Susan L" sort="Woods, Susan L" uniqKey="Woods S" first="Susan L." last="Woods">Susan L. Woods</name><affiliation><nlm:aff id="aff2">School of Medicine, University of Adelaide and Cancer Theme, SAHMRI, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Healey, Sue" sort="Healey, Sue" uniqKey="Healey S" first="Sue" last="Healey">Sue Healey</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Beesley, Jonathan" sort="Beesley, Jonathan" uniqKey="Beesley J" first="Jonathan" last="Beesley">Jonathan Beesley</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Chen, Xiaoqing" sort="Chen, Xiaoqing" uniqKey="Chen X" first="Xiaoqing" last="Chen">Xiaoqing Chen</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Lee, Jason S" sort="Lee, Jason S" uniqKey="Lee J" first="Jason S." last="Lee">Jason S. Lee</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Sivakumaran, Haran" sort="Sivakumaran, Haran" uniqKey="Sivakumaran H" first="Haran" last="Sivakumaran">Haran Sivakumaran</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Wayte, Nicci" sort="Wayte, Nicci" uniqKey="Wayte N" first="Nicci" last="Wayte">Nicci Wayte</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Nones, Katia" sort="Nones, Katia" uniqKey="Nones K" first="Katia" last="Nones">Katia Nones</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Waterfall, Joshua J" sort="Waterfall, Joshua J" uniqKey="Waterfall J" first="Joshua J." last="Waterfall">Joshua J. Waterfall</name><affiliation><nlm:aff id="aff3">Genetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Pearson, John" sort="Pearson, John" uniqKey="Pearson J" first="John" last="Pearson">John Pearson</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD 4072, Australia</nlm:aff></affiliation></author><author><name sortKey="Patch, Anne Marie" sort="Patch, Anne Marie" uniqKey="Patch A" first="Anne-Marie" last="Patch">Anne-Marie Patch</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Senz, Janine" sort="Senz, Janine" uniqKey="Senz J" first="Janine" last="Senz">Janine Senz</name><affiliation><nlm:aff id="aff5">Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada</nlm:aff></affiliation></author><author><name sortKey="Ferreira, Manuel A" sort="Ferreira, Manuel A" uniqKey="Ferreira M" first="Manuel A." last="Ferreira">Manuel A. Ferreira</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Kaurah, Pardeep" sort="Kaurah, Pardeep" uniqKey="Kaurah P" first="Pardeep" last="Kaurah">Pardeep Kaurah</name><affiliation><nlm:aff id="aff6">Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada</nlm:aff></affiliation></author><author><name sortKey="Mackenzie, Robertson" sort="Mackenzie, Robertson" uniqKey="Mackenzie R" first="Robertson" last="Mackenzie">Robertson Mackenzie</name><affiliation><nlm:aff id="aff7">Department of Molecular Oncology, BC Cancer Research Centre, Vancouver, BC V5Z 1L3, Canada</nlm:aff></affiliation></author><author><name sortKey="Heravi Moussavi, Alireza" sort="Heravi Moussavi, Alireza" uniqKey="Heravi Moussavi A" first="Alireza" last="Heravi-Moussavi">Alireza Heravi-Moussavi</name><affiliation><nlm:aff id="aff8">Canada’s Michael Smith Genome Sciences Centre, Vancouver, BC V5Z 4S6, Canada</nlm:aff></affiliation></author><author><name sortKey="Hansford, Samantha" sort="Hansford, Samantha" uniqKey="Hansford S" first="Samantha" last="Hansford">Samantha Hansford</name><affiliation><nlm:aff id="aff5">Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada</nlm:aff></affiliation></author><author><name sortKey="Lannagan, Tamsin R M" sort="Lannagan, Tamsin R M" uniqKey="Lannagan T" first="Tamsin R. M." last="Lannagan">Tamsin R. M. Lannagan</name><affiliation><nlm:aff id="aff2">School of Medicine, University of Adelaide and Cancer Theme, SAHMRI, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B." last="Spurdle">Amanda B. Spurdle</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Simpson, Peter T" sort="Simpson, Peter T" uniqKey="Simpson P" first="Peter T." last="Simpson">Peter T. Simpson</name><affiliation><nlm:aff id="aff9">UQ Centre for Clinical Research, The University of Queensland, Brisbane, QLD 4029, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">School of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia</nlm:aff></affiliation></author><author><name sortKey="Da Silva, Leonard" sort="Da Silva, Leonard" uniqKey="Da Silva L" first="Leonard" last="Da Silva">Leonard Da Silva</name><affiliation><nlm:aff id="aff9">UQ Centre for Clinical Research, The University of Queensland, Brisbane, QLD 4029, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">School of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia</nlm:aff></affiliation></author><author><name sortKey="Lakhani, Sunil R" sort="Lakhani, Sunil R" uniqKey="Lakhani S" first="Sunil R." last="Lakhani">Sunil R. Lakhani</name><affiliation><nlm:aff id="aff9">UQ Centre for Clinical Research, The University of Queensland, Brisbane, QLD 4029, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">School of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff11">Anatomical Pathology, Pathology Queensland, Royal Brisbane and Women’s Hospital, Brisbane, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Clouston, Andrew D" sort="Clouston, Andrew D" uniqKey="Clouston A" first="Andrew D." last="Clouston">Andrew D. Clouston</name><affiliation><nlm:aff id="aff12">Centre for Liver Disease Research, TRI Building, University of Queensland, Woolloongabba, QLD 4102, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff13">Envoi Specialist Pathologists, Bishop Street, Kelvin Grove, QLD 4059, Australia</nlm:aff></affiliation></author><author><name sortKey="Bettington, Mark" sort="Bettington, Mark" uniqKey="Bettington M" first="Mark" last="Bettington">Mark Bettington</name><affiliation><nlm:aff id="aff10">School of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff13">Envoi Specialist Pathologists, Bishop Street, Kelvin Grove, QLD 4059, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">The Conjoint Gastroenterology Laboratory, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Grimpen, Florian" sort="Grimpen, Florian" uniqKey="Grimpen F" first="Florian" last="Grimpen">Florian Grimpen</name><affiliation><nlm:aff id="aff15">Departments of Gastroenterology and Hepatology, Royal Brisbane and Women’s Hospital, Brisbane, QLD 4006, Australia</nlm:aff></affiliation></author><author><name sortKey="Busuttil, Rita A" sort="Busuttil, Rita A" uniqKey="Busuttil R" first="Rita A." last="Busuttil">Rita A. Busuttil</name><affiliation><nlm:aff id="aff16">Cancer Genetics and Genomics Laboratory, Peter MacCallum Cancer Centre, Locked Bag 1, Melbourne, VIC 8006, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff17">Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, VIC 3010, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff18">Department of Medicine, Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Di Costanzo, Natasha" sort="Di Costanzo, Natasha" uniqKey="Di Costanzo N" first="Natasha" last="Di Costanzo">Natasha Di Costanzo</name><affiliation><nlm:aff id="aff16">Cancer Genetics and Genomics Laboratory, Peter MacCallum Cancer Centre, Locked Bag 1, Melbourne, VIC 8006, Australia</nlm:aff></affiliation></author><author><name sortKey="Boussioutas, Alex" sort="Boussioutas, Alex" uniqKey="Boussioutas A" first="Alex" last="Boussioutas">Alex Boussioutas</name><affiliation><nlm:aff id="aff16">Cancer Genetics and Genomics Laboratory, Peter MacCallum Cancer Centre, Locked Bag 1, Melbourne, VIC 8006, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff17">Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, VIC 3010, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff18">Department of Medicine, Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC 3010, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff19">Department of Gastroenterology, Royal Melbourne Hospital, Parkville, VIC 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Jeanjean, Marie" sort="Jeanjean, Marie" uniqKey="Jeanjean M" first="Marie" last="Jeanjean">Marie Jeanjean</name><affiliation><nlm:aff id="aff20">Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, QC H3T 1E2, Canada</nlm:aff></affiliation></author><author><name sortKey="Chong, George" sort="Chong, George" uniqKey="Chong G" first="George" last="Chong">George Chong</name><affiliation><nlm:aff id="aff21">Molecular Pathology Centre, Department of Pathology, Jewish General Hospital - McGill University, Montreal, QC H3T 1E2, Canada</nlm:aff></affiliation></author><author><name sortKey="Fabre, Aurelie" sort="Fabre, Aurelie" uniqKey="Fabre A" first="Aurélie" last="Fabre">Aurélie Fabre</name><affiliation><nlm:aff id="aff22">AP-HM Timone, Medical Genetics Department, 13385 Marseille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff23">Aix Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff24">Oncology Unit, Generale de Sante, Clairval Hospital, 13009 Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Olschwang, Sylviane" sort="Olschwang, Sylviane" uniqKey="Olschwang S" first="Sylviane" last="Olschwang">Sylviane Olschwang</name><affiliation><nlm:aff id="aff22">AP-HM Timone, Medical Genetics Department, 13385 Marseille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff23">Aix Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff24">Oncology Unit, Generale de Sante, Clairval Hospital, 13009 Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Faulkner, Geoffrey J" sort="Faulkner, Geoffrey J" uniqKey="Faulkner G" first="Geoffrey J." last="Faulkner">Geoffrey J. Faulkner</name><affiliation><nlm:aff id="aff25">Mater Research Institute, University of Queensland, TRI Building, Woolloongabba, QLD 4102, Australia</nlm:aff></affiliation></author><author><name sortKey="Bellos, Evangelos" sort="Bellos, Evangelos" uniqKey="Bellos E" first="Evangelos" last="Bellos">Evangelos Bellos</name><affiliation><nlm:aff id="aff4">Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD 4072, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff26">Department of Genomics of Common Disease, Imperial College London, London W12 0NN, UK</nlm:aff></affiliation></author><author><name sortKey="Coin, Lachlan" sort="Coin, Lachlan" uniqKey="Coin L" first="Lachlan" last="Coin">Lachlan Coin</name><affiliation><nlm:aff id="aff4">Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD 4072, Australia</nlm:aff></affiliation></author><author><name sortKey="Rioux, Kevin" sort="Rioux, Kevin" uniqKey="Rioux K" first="Kevin" last="Rioux">Kevin Rioux</name><affiliation><nlm:aff id="aff27">Department of Medicine, Division of Gastroenterology, Department of Microbiology and Infectious Diseases, Gastrointestinal Research Group, University of Calgary, Calgary, AB T2N 4N1, Canada</nlm:aff></affiliation></author><author><name sortKey="Bathe, Oliver F" sort="Bathe, Oliver F" uniqKey="Bathe O" first="Oliver F." last="Bathe">Oliver F. Bathe</name><affiliation><nlm:aff id="aff28">Departments of Surgery and Oncology, University of Calgary, Calgary, AB T2N 4N1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff29">Division of Surgical Oncology, Tom Baker Cancer Centre, 1331 29<sup>th</sup> St NW, Calgary, AB T2N 4N1, Canada</nlm:aff></affiliation></author><author><name sortKey="Wen, Xiaogang" sort="Wen, Xiaogang" uniqKey="Wen X" first="Xiaogang" last="Wen">Xiaogang Wen</name><affiliation><nlm:aff id="aff30">Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)/Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto 4200-135, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="aff31">Centro Hospitalar Vila Nova de Gaia/Espinho, Porto 4430-027, Portugal</nlm:aff></affiliation></author><author><name sortKey="Martin, Hilary C" sort="Martin, Hilary C" uniqKey="Martin H" first="Hilary C." last="Martin">Hilary C. Martin</name><affiliation><nlm:aff id="aff32">Wellcome Trust Centre for Human Genetics, Oxford OX3 7BN, UK</nlm:aff></affiliation></author><author><name sortKey="Neklason, Deborah W" sort="Neklason, Deborah W" uniqKey="Neklason D" first="Deborah W." last="Neklason">Deborah W. Neklason</name><affiliation><nlm:aff id="aff33">Department of Internal Medicine, Huntsman Cancer Institute at University of Utah, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Davis, Sean R" sort="Davis, Sean R" uniqKey="Davis S" first="Sean R." last="Davis">Sean R. Davis</name><affiliation><nlm:aff id="aff3">Genetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Walker, Robert L" sort="Walker, Robert L" uniqKey="Walker R" first="Robert L." last="Walker">Robert L. Walker</name><affiliation><nlm:aff id="aff3">Genetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Calzone, Kathleen A" sort="Calzone, Kathleen A" uniqKey="Calzone K" first="Kathleen A." last="Calzone">Kathleen A. Calzone</name><affiliation><nlm:aff id="aff3">Genetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Avital, Itzhak" sort="Avital, Itzhak" uniqKey="Avital I" first="Itzhak" last="Avital">Itzhak Avital</name><affiliation><nlm:aff id="aff34">Department of Surgery, Saint Peter’s University Hospital, Rutgers University, New Brunswick, NJ 08901, USA</nlm:aff></affiliation></author><author><name sortKey="Heller, Theo" sort="Heller, Theo" uniqKey="Heller T" first="Theo" last="Heller">Theo Heller</name><affiliation><nlm:aff id="aff35">Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Koh, Christopher" sort="Koh, Christopher" uniqKey="Koh C" first="Christopher" last="Koh">Christopher Koh</name><affiliation><nlm:aff id="aff35">Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Pineda, Marbin" sort="Pineda, Marbin" uniqKey="Pineda M" first="Marbin" last="Pineda">Marbin Pineda</name><affiliation><nlm:aff id="aff3">Genetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Rudloff, Udo" sort="Rudloff, Udo" uniqKey="Rudloff U" first="Udo" last="Rudloff">Udo Rudloff</name><affiliation><nlm:aff id="aff36">Thoracic and Gastrointestinal Oncology Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Quezado, Martha" sort="Quezado, Martha" uniqKey="Quezado M" first="Martha" last="Quezado">Martha Quezado</name><affiliation><nlm:aff id="aff37">Laboratory of Pathology, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Pichurin, Pavel N" sort="Pichurin, Pavel N" uniqKey="Pichurin P" first="Pavel N." last="Pichurin">Pavel N. Pichurin</name><affiliation><nlm:aff id="aff38">Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA</nlm:aff></affiliation></author><author><name sortKey="Hulick, Peter J" sort="Hulick, Peter J" uniqKey="Hulick P" first="Peter J." last="Hulick">Peter J. Hulick</name><affiliation><nlm:aff id="aff39">Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL 60201, USA</nlm:aff></affiliation></author><author><name sortKey="Weissman, Scott M" sort="Weissman, Scott M" uniqKey="Weissman S" first="Scott M." last="Weissman">Scott M. Weissman</name><affiliation><nlm:aff id="aff40">GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA</nlm:aff></affiliation></author><author><name sortKey="Newlin, Anna" sort="Newlin, Anna" uniqKey="Newlin A" first="Anna" last="Newlin">Anna Newlin</name><affiliation><nlm:aff id="aff39">Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL 60201, USA</nlm:aff></affiliation></author><author><name sortKey="Rubinstein, Wendy S" sort="Rubinstein, Wendy S" uniqKey="Rubinstein W" first="Wendy S." last="Rubinstein">Wendy S. Rubinstein</name><affiliation><nlm:aff id="aff41">National Center for Biotechnology Information (NCBI), National Library of Medicine (NLM), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Sampson, Jone E" sort="Sampson, Jone E" uniqKey="Sampson J" first="Jone E." last="Sampson">Jone E. Sampson</name><affiliation><nlm:aff id="aff42">Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA</nlm:aff></affiliation></author><author><name sortKey="Hamman, Kelly" sort="Hamman, Kelly" uniqKey="Hamman K" first="Kelly" last="Hamman">Kelly Hamman</name><affiliation><nlm:aff id="aff42">Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David" sort="Goldgar, David" uniqKey="Goldgar D" first="David" last="Goldgar">David Goldgar</name><affiliation><nlm:aff id="aff43">Department of Dermatology and Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Poplawski, Nicola" sort="Poplawski, Nicola" uniqKey="Poplawski N" first="Nicola" last="Poplawski">Nicola Poplawski</name><affiliation><nlm:aff id="aff44">Adult Genetics Unit, SA Pathology at the Women’s and Children’s Hospital, North Adelaide, SA 5006, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff45">University Department of Paediatrics, University of Adelaide, Adelaide, SA 5005, Australia</nlm:aff></affiliation></author><author><name sortKey="Phillips, Kerry" sort="Phillips, Kerry" uniqKey="Phillips K" first="Kerry" last="Phillips">Kerry Phillips</name><affiliation><nlm:aff id="aff44">Adult Genetics Unit, SA Pathology at the Women’s and Children’s Hospital, North Adelaide, SA 5006, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff45">University Department of Paediatrics, University of Adelaide, Adelaide, SA 5005, Australia</nlm:aff></affiliation></author><author><name sortKey="Schofield, Lyn" sort="Schofield, Lyn" uniqKey="Schofield L" first="Lyn" last="Schofield">Lyn Schofield</name><affiliation><nlm:aff id="aff46">Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA 6008, Australia</nlm:aff></affiliation></author><author><name sortKey="Armstrong, Jacqueline" sort="Armstrong, Jacqueline" uniqKey="Armstrong J" first="Jacqueline" last="Armstrong">Jacqueline Armstrong</name><affiliation><nlm:aff id="aff44">Adult Genetics Unit, SA Pathology at the Women’s and Children’s Hospital, North Adelaide, SA 5006, Australia</nlm:aff></affiliation></author><author><name sortKey="Kiraly Borri, Cathy" sort="Kiraly Borri, Cathy" uniqKey="Kiraly Borri C" first="Cathy" last="Kiraly-Borri">Cathy Kiraly-Borri</name><affiliation><nlm:aff id="aff46">Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA 6008, Australia</nlm:aff></affiliation></author><author><name sortKey="Suthers, Graeme K" sort="Suthers, Graeme K" uniqKey="Suthers G" first="Graeme K." last="Suthers">Graeme K. Suthers</name><affiliation><nlm:aff id="aff45">University Department of Paediatrics, University of Adelaide, Adelaide, SA 5005, Australia</nlm:aff></affiliation></author><author><name sortKey="Huntsman, David G" sort="Huntsman, David G" uniqKey="Huntsman D" first="David G." last="Huntsman">David G. Huntsman</name><affiliation><nlm:aff id="aff7">Department of Molecular Oncology, BC Cancer Research Centre, Vancouver, BC V5Z 1L3, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff47">Department of Pathology and Obstetrics and Gynaecology, University of British Columbia, Vancouver, BC V6Z 2K5, Canada</nlm:aff></affiliation></author><author><name sortKey="Foulkes, William D" sort="Foulkes, William D" uniqKey="Foulkes W" first="William D." last="Foulkes">William D. Foulkes</name><affiliation><nlm:aff id="aff20">Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, QC H3T 1E2, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff48">Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada</nlm:aff></affiliation></author><author><name sortKey="Carneiro, Fatima" sort="Carneiro, Fatima" uniqKey="Carneiro F" first="Fatima" last="Carneiro">Fatima Carneiro</name><affiliation><nlm:aff id="aff30">Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)/Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto 4200-135, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="aff49">Medical Faculty of the University of Porto/Centro Hospitalar São João, Porto 4200-319, Portugal</nlm:aff></affiliation></author><author><name sortKey="Lindor, Noralane M" sort="Lindor, Noralane M" uniqKey="Lindor N" first="Noralane M." last="Lindor">Noralane M. Lindor</name><affiliation><nlm:aff id="aff50">Department of Health Sciences Research, Mayo Clinic, Scottsdale, AZ 85259, USA</nlm:aff></affiliation></author><author><name sortKey="Edwards, Stacey L" sort="Edwards, Stacey L" uniqKey="Edwards S" first="Stacey L." last="Edwards">Stacey L. Edwards</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="French, Juliet D" sort="French, Juliet D" uniqKey="French J" first="Juliet D." last="French">Juliet D. French</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Waddell, Nicola" sort="Waddell, Nicola" uniqKey="Waddell N" first="Nicola" last="Waddell">Nicola Waddell</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD 4072, Australia</nlm:aff></affiliation></author><author><name sortKey="Meltzer, Paul S" sort="Meltzer, Paul S" uniqKey="Meltzer P" first="Paul S." last="Meltzer">Paul S. Meltzer</name><affiliation><nlm:aff id="aff3">Genetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Worthley, Daniel L" sort="Worthley, Daniel L" uniqKey="Worthley D" first="Daniel L." last="Worthley">Daniel L. Worthley</name><affiliation><nlm:aff id="aff2">School of Medicine, University of Adelaide and Cancer Theme, SAHMRI, Adelaide, SA 5000, Australia</nlm:aff></affiliation></author><author><name sortKey="Schrader, Kasmintan A" sort="Schrader, Kasmintan A" uniqKey="Schrader K" first="Kasmintan A." last="Schrader">Kasmintan A. Schrader</name><affiliation><nlm:aff id="aff6">Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Department of Molecular Oncology, BC Cancer Research Centre, Vancouver, BC V5Z 1L3, Canada</nlm:aff></affiliation></author><author><name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name><affiliation><nlm:aff id="aff1">Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, adenocarcinoma. We mapped the gene to 5q22 and found loss of the wild-type allele on 5q in fundic gland polyps from affected individuals. Whole-exome and -genome sequencing failed to find causal mutations but, through Sanger sequencing, we identified point mutations in <italic>APC</italic> promoter 1B that co-segregated with disease in all six families. The mutations reduced binding of the YY1 transcription factor and impaired activity of the <italic>APC</italic> promoter 1B in luciferase assays. Analysis of blood and saliva from carriers showed allelic imbalance of <italic>APC</italic>, suggesting that these mutations lead to decreased allele-specific expression in vivo. Similar mutations in <italic>APC</italic> promoter 1B occur in rare families with familial adenomatous polyposis (FAP). Promoter 1A is methylated in GAPPS and sporadic FGPs and in normal stomach, which suggests that 1B transcripts are more important than 1A in gastric mucosa. This might explain why all known GAPPS-affected families carry promoter 1B point mutations but only rare FAP-affected families carry similar mutations, the colonic cells usually being protected by the expression of the 1A isoform. Gastric polyposis and cancer have been previously described in some FAP-affected individuals with large deletions around promoter 1B. Our finding that GAPPS is caused by point mutations in the same promoter suggests that families with mutations affecting the promoter 1B are at risk of gastric adenocarcinoma, regardless of whether or not colorectal polyps are present.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27087319</article-id><article-id pub-id-type="pmc">4863475</article-id><article-id pub-id-type="publisher-id">S0002-9297(16)30036-2</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2016.03.001</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Point Mutations in Exon 1B of <italic>APC</italic> Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Li</surname><given-names>Jun</given-names></name><xref 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contrib-type="author"><name><surname>French</surname><given-names>Juliet D.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Waddell</surname><given-names>Nicola</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Meltzer</surname><given-names>Paul S.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Worthley</surname><given-names>Daniel L.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Schrader</surname><given-names>Kasmintan A.</given-names></name><xref rid="aff6" ref-type="aff">6</xref><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Chenevix-Trench</surname><given-names>Georgia</given-names></name><email>georgia.trench@qimrberghofer.edu.au</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia</aff><aff id="aff2"><label>2</label>School of Medicine, University of Adelaide and Cancer Theme, SAHMRI, Adelaide, SA 5000, Australia</aff><aff id="aff3"><label>3</label>Genetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</aff><aff id="aff4"><label>4</label>Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD 4072, Australia</aff><aff id="aff5"><label>5</label>Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada</aff><aff id="aff6"><label>6</label>Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada</aff><aff id="aff7"><label>7</label>Department of Molecular Oncology, BC Cancer Research Centre, Vancouver, BC V5Z 1L3, Canada</aff><aff id="aff8"><label>8</label>Canada’s Michael Smith Genome Sciences Centre, Vancouver, BC V5Z 4S6, Canada</aff><aff id="aff9"><label>9</label>UQ Centre for Clinical Research, The University of Queensland, Brisbane, QLD 4029, Australia</aff><aff id="aff10"><label>10</label>School of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia</aff><aff id="aff11"><label>11</label>Anatomical Pathology, Pathology Queensland, Royal Brisbane and Women’s Hospital, Brisbane, QLD 4029, Australia</aff><aff id="aff12"><label>12</label>Centre for Liver Disease Research, TRI Building, University of Queensland, Woolloongabba, QLD 4102, Australia</aff><aff id="aff13"><label>13</label>Envoi Specialist Pathologists, Bishop Street, Kelvin Grove, QLD 4059, Australia</aff><aff id="aff14"><label>14</label>The Conjoint Gastroenterology Laboratory, QIMR Berghofer, Herston, QLD 4029, Australia</aff><aff id="aff15"><label>15</label>Departments of Gastroenterology and Hepatology, Royal Brisbane and Women’s Hospital, Brisbane, QLD 4006, Australia</aff><aff id="aff16"><label>16</label>Cancer Genetics and Genomics Laboratory, Peter MacCallum Cancer Centre, Locked Bag 1, Melbourne, VIC 8006, Australia</aff><aff id="aff17"><label>17</label>Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, VIC 3010, Australia</aff><aff id="aff18"><label>18</label>Department of Medicine, Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC 3010, Australia</aff><aff id="aff19"><label>19</label>Department of Gastroenterology, Royal Melbourne Hospital, Parkville, VIC 3010, Australia</aff><aff id="aff20"><label>20</label>Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, QC H3T 1E2, Canada</aff><aff id="aff21"><label>21</label>Molecular Pathology Centre, Department of Pathology, Jewish General Hospital - McGill University, Montreal, QC H3T 1E2, Canada</aff><aff id="aff22"><label>22</label>AP-HM Timone, Medical Genetics Department, 13385 Marseille, France</aff><aff id="aff23"><label>23</label>Aix Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France</aff><aff id="aff24"><label>24</label>Oncology Unit, Generale de Sante, Clairval Hospital, 13009 Marseille, France</aff><aff id="aff25"><label>25</label>Mater Research Institute, University of Queensland, TRI Building, Woolloongabba, QLD 4102, Australia</aff><aff id="aff26"><label>26</label>Department of Genomics of Common Disease, Imperial College London, London W12 0NN, UK</aff><aff id="aff27"><label>27</label>Department of Medicine, Division of Gastroenterology, Department of Microbiology and Infectious Diseases, Gastrointestinal Research Group, University of Calgary, Calgary, AB T2N 4N1, Canada</aff><aff id="aff28"><label>28</label>Departments of Surgery and Oncology, University of Calgary, Calgary, AB T2N 4N1, Canada</aff><aff id="aff29"><label>29</label>Division of Surgical Oncology, Tom Baker Cancer Centre, 1331 29<sup>th</sup> St NW, Calgary, AB T2N 4N1, Canada</aff><aff id="aff30"><label>30</label>Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)/Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto 4200-135, Portugal</aff><aff id="aff31"><label>31</label>Centro Hospitalar Vila Nova de Gaia/Espinho, Porto 4430-027, Portugal</aff><aff id="aff32"><label>32</label>Wellcome Trust Centre for Human Genetics, Oxford OX3 7BN, UK</aff><aff id="aff33"><label>33</label>Department of Internal Medicine, Huntsman Cancer Institute at University of Utah, Salt Lake City, UT 84112, USA</aff><aff id="aff34"><label>34</label>Department of Surgery, Saint Peter’s University Hospital, Rutgers University, New Brunswick, NJ 08901, USA</aff><aff id="aff35"><label>35</label>Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease (NIDDK), NIH, Bethesda, MD 20892, USA</aff><aff id="aff36"><label>36</label>Thoracic and Gastrointestinal Oncology Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</aff><aff id="aff37"><label>37</label>Laboratory of Pathology, Center for Cancer Research (CCR), National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA</aff><aff id="aff38"><label>38</label>Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA</aff><aff id="aff39"><label>39</label>Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL 60201, USA</aff><aff id="aff40"><label>40</label>GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA</aff><aff id="aff41"><label>41</label>National Center for Biotechnology Information (NCBI), National Library of Medicine (NLM), NIH, Bethesda, MD 20892, USA</aff><aff id="aff42"><label>42</label>Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA</aff><aff id="aff43"><label>43</label>Department of Dermatology and Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</aff><aff id="aff44"><label>44</label>Adult Genetics Unit, SA Pathology at the Women’s and Children’s Hospital, North Adelaide, SA 5006, Australia</aff><aff id="aff45"><label>45</label>University Department of Paediatrics, University of Adelaide, Adelaide, SA 5005, Australia</aff><aff id="aff46"><label>46</label>Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA 6008, Australia</aff><aff id="aff47"><label>47</label>Department of Pathology and Obstetrics and Gynaecology, University of British Columbia, Vancouver, BC V6Z 2K5, Canada</aff><aff id="aff48"><label>48</label>Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada</aff><aff id="aff49"><label>49</label>Medical Faculty of the University of Porto/Centro Hospitalar São João, Porto 4200-319, Portugal</aff><aff id="aff50"><label>50</label>Department of Health Sciences Research, Mayo Clinic, Scottsdale, AZ 85259, USA</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>georgia.trench@qimrberghofer.edu.au</email></corresp></author-notes><pub-date pub-type="ppub"><day>05</day><month>5</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>14</day><month>4</month><year>2016</year></pub-date><volume>98</volume><issue>5</issue><fpage>830</fpage><lpage>842</lpage><history><date date-type="received"><day>25</day><month>1</month><year>2016</year></date><date date-type="accepted"><day>2</day><month>3</month><year>2016</year></date></history><permissions><copyright-statement>©2016 by The American Society of Human Genetics. All rights reserved.</copyright-statement><copyright-year>2016</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, adenocarcinoma. We mapped the gene to 5q22 and found loss of the wild-type allele on 5q in fundic gland polyps from affected individuals. Whole-exome and -genome sequencing failed to find causal mutations but, through Sanger sequencing, we identified point mutations in <italic>APC</italic> promoter 1B that co-segregated with disease in all six families. The mutations reduced binding of the YY1 transcription factor and impaired activity of the <italic>APC</italic> promoter 1B in luciferase assays. Analysis of blood and saliva from carriers showed allelic imbalance of <italic>APC</italic>, suggesting that these mutations lead to decreased allele-specific expression in vivo. Similar mutations in <italic>APC</italic> promoter 1B occur in rare families with familial adenomatous polyposis (FAP). Promoter 1A is methylated in GAPPS and sporadic FGPs and in normal stomach, which suggests that 1B transcripts are more important than 1A in gastric mucosa. This might explain why all known GAPPS-affected families carry promoter 1B point mutations but only rare FAP-affected families carry similar mutations, the colonic cells usually being protected by the expression of the 1A isoform. Gastric polyposis and cancer have been previously described in some FAP-affected individuals with large deletions around promoter 1B. Our finding that GAPPS is caused by point mutations in the same promoter suggests that families with mutations affecting the promoter 1B are at risk of gastric adenocarcinoma, regardless of whether or not colorectal polyps are present.</p></abstract></article-meta><notes><p id="misc0010">Published: April 14, 2016</p></notes></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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