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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Rare mutations in <italic>RINT1</italic> predispose carriers to breast and Lynch Syndrome-spectrum cancers</title><author><name sortKey="Park, Daniel J" sort="Park, Daniel J" uniqKey="Park D" first="Daniel J." last="Park">Daniel J. Park</name><affiliation><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Tao, Kayoko" sort="Tao, Kayoko" uniqKey="Tao K" first="Kayoko" last="Tao">Kayoko Tao</name><affiliation><nlm:aff id="A2">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Le Calvez Kelm, Florence" sort="Le Calvez Kelm, Florence" uniqKey="Le Calvez Kelm F" first="Florence" last="Le Calvez-Kelm">Florence Le Calvez-Kelm</name><affiliation><nlm:aff id="A3">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Nguyen Dumont, Tu" sort="Nguyen Dumont, Tu" uniqKey="Nguyen Dumont T" first="Tu" last="Nguyen-Dumont">Tu Nguyen-Dumont</name><affiliation><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Robinot, Nivonirina" sort="Robinot, Nivonirina" uniqKey="Robinot N" first="Nivonirina" last="Robinot">Nivonirina Robinot</name><affiliation><nlm:aff id="A3">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Hammet, Fleur" sort="Hammet, Fleur" uniqKey="Hammet F" first="Fleur" last="Hammet">Fleur Hammet</name><affiliation><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Odefrey, Fabrice" sort="Odefrey, Fabrice" uniqKey="Odefrey F" first="Fabrice" last="Odefrey">Fabrice Odefrey</name><affiliation><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Tsimiklis, Helen" sort="Tsimiklis, Helen" uniqKey="Tsimiklis H" first="Helen" last="Tsimiklis">Helen Tsimiklis</name><affiliation><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Teo, Zhi L" sort="Teo, Zhi L" uniqKey="Teo Z" first="Zhi L." last="Teo">Zhi L. Teo</name><affiliation><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Thingholm, Louise B" sort="Thingholm, Louise B" uniqKey="Thingholm L" first="Louise B." last="Thingholm">Louise B. Thingholm</name><affiliation><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Young, Erin L" sort="Young, Erin L" uniqKey="Young E" first="Erin L." last="Young">Erin L. Young</name><affiliation><nlm:aff id="A2">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Voegele, Catherine" sort="Voegele, Catherine" uniqKey="Voegele C" first="Catherine" last="Voegele">Catherine Voegele</name><affiliation><nlm:aff id="A3">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Lonie, Andrew" sort="Lonie, Andrew" uniqKey="Lonie A" first="Andrew" last="Lonie">Andrew Lonie</name><affiliation><nlm:aff id="A4">Victorian Life Sciences Computation Initiative, Carlton, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Pope, Bernard J" sort="Pope, Bernard J" uniqKey="Pope B" first="Bernard J." last="Pope">Bernard J. Pope</name><affiliation><nlm:aff id="A4">Victorian Life Sciences Computation Initiative, Carlton, Victoria 3010, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Department of Computing and Information Systems, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Roane, Terrell C" sort="Roane, Terrell C" uniqKey="Roane T" first="Terrell C." last="Roane">Terrell C. Roane</name><affiliation><nlm:aff id="A6">University of Texas at Austin, Austin, TX 78712, USA</nlm:aff></affiliation></author><author><name sortKey="Bell, Russell" sort="Bell, Russell" uniqKey="Bell R" first="Russell" last="Bell">Russell Bell</name><affiliation><nlm:aff id="A2">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Hu, Hao" sort="Hu, Hao" uniqKey="Hu H" first="Hao" last="Hu">Hao Hu</name><affiliation><nlm:aff id="A7">Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Huff, Chad D" sort="Huff, Chad D" uniqKey="Huff C" first="Chad D." last="Huff">Chad D. Huff</name><affiliation><nlm:aff id="A7">Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Ellis, Jonathan" sort="Ellis, Jonathan" uniqKey="Ellis J" first="Jonathan" last="Ellis">Jonathan Ellis</name><affiliation><nlm:aff id="A8">The QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD 4006, Australia</nlm:aff></affiliation></author><author><name sortKey="Li, Jun" sort="Li, Jun" uniqKey="Li J" first="Jun" last="Li">Jun Li</name><affiliation><nlm:aff id="A8">The QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD 4006, Australia</nlm:aff></affiliation></author><author><name sortKey="Makunin, Igor V" sort="Makunin, Igor V" uniqKey="Makunin I" first="Igor V." last="Makunin">Igor V. Makunin</name><affiliation><nlm:aff id="A8">The QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD 4006, Australia</nlm:aff></affiliation></author><author><name sortKey="John, Esther M" sort="John, Esther M" uniqKey="John E" first="Esther M." last="John">Esther M. John</name><affiliation><nlm:aff id="A9">Cancer Prevention Institute of California, Fremont, CA 94538, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Health Research and Policy, Stanford Cancer Institute, Stanford, CA 94305, USA</nlm:aff></affiliation></author><author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name><affiliation><nlm:aff id="A11">Department of Molecular Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada</nlm:aff></affiliation></author><author><name sortKey="Terry, Mary B" sort="Terry, Mary B" uniqKey="Terry M" first="Mary B." last="Terry">Mary B. Terry</name><affiliation><nlm:aff id="A12">Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Daly, Mary" sort="Daly, Mary" uniqKey="Daly M" first="Mary" last="Daly">Mary Daly</name><affiliation><nlm:aff id="A13">Fox Chase Cancer Center, Philadelphia, PA 19111, USA</nlm:aff></affiliation></author><author><name sortKey="Buys, Saundra S" sort="Buys, Saundra S" uniqKey="Buys S" first="Saundra S." last="Buys">Saundra S. Buys</name><affiliation><nlm:aff id="A14">Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Snyder, Carrie" sort="Snyder, Carrie" uniqKey="Snyder C" first="Carrie" last="Snyder">Carrie Snyder</name><affiliation><nlm:aff id="A15">Department of Preventive Medicine, Creighton University, Omaha, NE 68178</nlm:aff></affiliation></author><author><name sortKey="Lynch, Henry T" sort="Lynch, Henry T" uniqKey="Lynch H" first="Henry T." last="Lynch">Henry T. Lynch</name><affiliation><nlm:aff id="A15">Department of Preventive Medicine, Creighton University, Omaha, NE 68178</nlm:aff></affiliation></author><author><name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name><affiliation><nlm:aff id="A16">Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands</nlm:aff></affiliation></author><author><name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G." last="Giles">Graham G. Giles</name><affiliation><nlm:aff id="A17">Centre for Cancer Epidemiology, The Cancer Council Victoria, Carlton, Victoria 3004, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A18">Centre for, Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L." last="Hopper">John L. Hopper</name><affiliation><nlm:aff id="A18">Centre for, Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A19">School of Public Health, Seoul National University, Seoul, Korea</nlm:aff></affiliation></author><author><name sortKey="Feng, Bing J" sort="Feng, Bing J" uniqKey="Feng B" first="Bing J." last="Feng">Bing J. Feng</name><affiliation><nlm:aff id="A14">Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A20">Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT 84132 USA</nlm:aff></affiliation></author><author><name sortKey="Lesueur, Fabienne" sort="Lesueur, Fabienne" uniqKey="Lesueur F" first="Fabienne" last="Lesueur">Fabienne Lesueur</name><affiliation><nlm:aff id="A3">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="A21">Genetic Epidemiology of Cancer Team, Inserm, U900, Institut Curie, Mines ParisTech</nlm:aff></affiliation></author><author><name sortKey="Tavtigian, Sean V" sort="Tavtigian, Sean V" uniqKey="Tavtigian S" first="Sean V." last="Tavtigian">Sean V. Tavtigian</name><affiliation><nlm:aff id="A2">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</name><affiliation><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E." last="Goldgar">David E. Goldgar</name><affiliation><nlm:aff id="A14">Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A20">Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT 84132 USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25050558</idno><idno type="pmc">4234633</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234633</idno><idno type="RBID">PMC:4234633</idno><idno type="doi">10.1158/2159-8290.CD-14-0212</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">001E75</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001E75</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Rare mutations in <italic>RINT1</italic> predispose carriers to breast and Lynch Syndrome-spectrum cancers</title><author><name sortKey="Park, Daniel J" sort="Park, Daniel J" uniqKey="Park D" first="Daniel J." last="Park">Daniel J. Park</name><affiliation><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Tao, Kayoko" sort="Tao, Kayoko" uniqKey="Tao K" first="Kayoko" last="Tao">Kayoko Tao</name><affiliation><nlm:aff id="A2">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Le Calvez Kelm, Florence" sort="Le Calvez Kelm, Florence" uniqKey="Le Calvez Kelm F" first="Florence" last="Le Calvez-Kelm">Florence Le Calvez-Kelm</name><affiliation><nlm:aff id="A3">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Nguyen Dumont, Tu" sort="Nguyen Dumont, Tu" uniqKey="Nguyen Dumont T" first="Tu" last="Nguyen-Dumont">Tu Nguyen-Dumont</name><affiliation><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Robinot, Nivonirina" sort="Robinot, Nivonirina" uniqKey="Robinot N" first="Nivonirina" last="Robinot">Nivonirina Robinot</name><affiliation><nlm:aff id="A3">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Hammet, Fleur" sort="Hammet, Fleur" uniqKey="Hammet F" first="Fleur" last="Hammet">Fleur Hammet</name><affiliation><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Odefrey, Fabrice" sort="Odefrey, Fabrice" uniqKey="Odefrey F" first="Fabrice" last="Odefrey">Fabrice Odefrey</name><affiliation><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Tsimiklis, Helen" sort="Tsimiklis, Helen" uniqKey="Tsimiklis H" first="Helen" last="Tsimiklis">Helen Tsimiklis</name><affiliation><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Teo, Zhi L" sort="Teo, Zhi L" uniqKey="Teo Z" first="Zhi L." last="Teo">Zhi L. Teo</name><affiliation><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Thingholm, Louise B" sort="Thingholm, Louise B" uniqKey="Thingholm L" first="Louise B." last="Thingholm">Louise B. Thingholm</name><affiliation><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Young, Erin L" sort="Young, Erin L" uniqKey="Young E" first="Erin L." last="Young">Erin L. Young</name><affiliation><nlm:aff id="A2">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Voegele, Catherine" sort="Voegele, Catherine" uniqKey="Voegele C" first="Catherine" last="Voegele">Catherine Voegele</name><affiliation><nlm:aff id="A3">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Lonie, Andrew" sort="Lonie, Andrew" uniqKey="Lonie A" first="Andrew" last="Lonie">Andrew Lonie</name><affiliation><nlm:aff id="A4">Victorian Life Sciences Computation Initiative, Carlton, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Pope, Bernard J" sort="Pope, Bernard J" uniqKey="Pope B" first="Bernard J." last="Pope">Bernard J. Pope</name><affiliation><nlm:aff id="A4">Victorian Life Sciences Computation Initiative, Carlton, Victoria 3010, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Department of Computing and Information Systems, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Roane, Terrell C" sort="Roane, Terrell C" uniqKey="Roane T" first="Terrell C." last="Roane">Terrell C. Roane</name><affiliation><nlm:aff id="A6">University of Texas at Austin, Austin, TX 78712, USA</nlm:aff></affiliation></author><author><name sortKey="Bell, Russell" sort="Bell, Russell" uniqKey="Bell R" first="Russell" last="Bell">Russell Bell</name><affiliation><nlm:aff id="A2">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Hu, Hao" sort="Hu, Hao" uniqKey="Hu H" first="Hao" last="Hu">Hao Hu</name><affiliation><nlm:aff id="A7">Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Huff, Chad D" sort="Huff, Chad D" uniqKey="Huff C" first="Chad D." last="Huff">Chad D. Huff</name><affiliation><nlm:aff id="A7">Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Ellis, Jonathan" sort="Ellis, Jonathan" uniqKey="Ellis J" first="Jonathan" last="Ellis">Jonathan Ellis</name><affiliation><nlm:aff id="A8">The QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD 4006, Australia</nlm:aff></affiliation></author><author><name sortKey="Li, Jun" sort="Li, Jun" uniqKey="Li J" first="Jun" last="Li">Jun Li</name><affiliation><nlm:aff id="A8">The QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD 4006, Australia</nlm:aff></affiliation></author><author><name sortKey="Makunin, Igor V" sort="Makunin, Igor V" uniqKey="Makunin I" first="Igor V." last="Makunin">Igor V. Makunin</name><affiliation><nlm:aff id="A8">The QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD 4006, Australia</nlm:aff></affiliation></author><author><name sortKey="John, Esther M" sort="John, Esther M" uniqKey="John E" first="Esther M." last="John">Esther M. John</name><affiliation><nlm:aff id="A9">Cancer Prevention Institute of California, Fremont, CA 94538, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Health Research and Policy, Stanford Cancer Institute, Stanford, CA 94305, USA</nlm:aff></affiliation></author><author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name><affiliation><nlm:aff id="A11">Department of Molecular Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada</nlm:aff></affiliation></author><author><name sortKey="Terry, Mary B" sort="Terry, Mary B" uniqKey="Terry M" first="Mary B." last="Terry">Mary B. Terry</name><affiliation><nlm:aff id="A12">Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Daly, Mary" sort="Daly, Mary" uniqKey="Daly M" first="Mary" last="Daly">Mary Daly</name><affiliation><nlm:aff id="A13">Fox Chase Cancer Center, Philadelphia, PA 19111, USA</nlm:aff></affiliation></author><author><name sortKey="Buys, Saundra S" sort="Buys, Saundra S" uniqKey="Buys S" first="Saundra S." last="Buys">Saundra S. Buys</name><affiliation><nlm:aff id="A14">Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Snyder, Carrie" sort="Snyder, Carrie" uniqKey="Snyder C" first="Carrie" last="Snyder">Carrie Snyder</name><affiliation><nlm:aff id="A15">Department of Preventive Medicine, Creighton University, Omaha, NE 68178</nlm:aff></affiliation></author><author><name sortKey="Lynch, Henry T" sort="Lynch, Henry T" uniqKey="Lynch H" first="Henry T." last="Lynch">Henry T. Lynch</name><affiliation><nlm:aff id="A15">Department of Preventive Medicine, Creighton University, Omaha, NE 68178</nlm:aff></affiliation></author><author><name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name><affiliation><nlm:aff id="A16">Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands</nlm:aff></affiliation></author><author><name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G." last="Giles">Graham G. Giles</name><affiliation><nlm:aff id="A17">Centre for Cancer Epidemiology, The Cancer Council Victoria, Carlton, Victoria 3004, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A18">Centre for, Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L." last="Hopper">John L. Hopper</name><affiliation><nlm:aff id="A18">Centre for, Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A19">School of Public Health, Seoul National University, Seoul, Korea</nlm:aff></affiliation></author><author><name sortKey="Feng, Bing J" sort="Feng, Bing J" uniqKey="Feng B" first="Bing J." last="Feng">Bing J. Feng</name><affiliation><nlm:aff id="A14">Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A20">Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT 84132 USA</nlm:aff></affiliation></author><author><name sortKey="Lesueur, Fabienne" sort="Lesueur, Fabienne" uniqKey="Lesueur F" first="Fabienne" last="Lesueur">Fabienne Lesueur</name><affiliation><nlm:aff id="A3">Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="A21">Genetic Epidemiology of Cancer Team, Inserm, U900, Institut Curie, Mines ParisTech</nlm:aff></affiliation></author><author><name sortKey="Tavtigian, Sean V" sort="Tavtigian, Sean V" uniqKey="Tavtigian S" first="Sean V." last="Tavtigian">Sean V. Tavtigian</name><affiliation><nlm:aff id="A2">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</nlm:aff></affiliation></author><author><name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</name><affiliation><nlm:aff id="A1">Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E." last="Goldgar">David E. Goldgar</name><affiliation><nlm:aff id="A14">Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A20">Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT 84132 USA</nlm:aff></affiliation></author></analytic><series><title level="j">Cancer discovery</title><idno type="ISSN">2159-8274</idno><idno type="eISSN">2159-8290</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Approximately half of the familial aggregation of breast cancer remains unexplained. A multiple-case breast cancer family exome sequencing study identified three likely pathogenic mutations in <italic>RINT1</italic> (NM_021930.4) not present in public sequencing databases: <italic>RINT1</italic> c.343C>T (p.Q115X), c.1132_1134del (p.M378del) and c.1207G>T (p.D403Y). Based on this finding, a population-based case-control mutation-screening study was conducted and identified 29 carriers of rare (MAF < 0.5%), likely pathogenic variants: 23 in 1,313 early-onset breast cancer cases and 6 in 1,123 frequency-matched controls (OR=3.24, 95%CI 1.29-8.17; p=0.013). <italic>RINT1</italic> mutation screening of probands from 798 multiple-case breast cancer families identified 4additional carriers of rare genetic variants. Analysis of the incidence of first primary cancers in families of women in <italic>RINT1</italic>-mutation carrying families estimated that carriers were at increased risks of Lynch syndrome-spectrum cancers (SIR 3.35, 95% CI 1.7-6.0; P=0.005), particularly for relatives diagnosed with cancer under age 60 years (SIR 10.9, 95%CI 4.7-21; P=0.0003).</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>
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<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101561693</journal-id><journal-id journal-id-type="pubmed-jr-id">39259</journal-id><journal-id journal-id-type="nlm-ta">Cancer Discov</journal-id><journal-id journal-id-type="iso-abbrev">Cancer Discov</journal-id><journal-title-group><journal-title>Cancer discovery</journal-title></journal-title-group><issn pub-type="ppub">2159-8274</issn><issn pub-type="epub">2159-8290</issn></journal-meta><article-meta><article-id pub-id-type="pmid">25050558</article-id><article-id pub-id-type="pmc">4234633</article-id><article-id pub-id-type="doi">10.1158/2159-8290.CD-14-0212</article-id><article-id pub-id-type="manuscript">NIHMS592360</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Rare mutations in <italic>RINT1</italic> predispose carriers to breast and Lynch Syndrome-spectrum cancers</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Park</surname><given-names>Daniel J.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref rid="FN2" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Tao</surname><given-names>Kayoko</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref rid="FN2" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Le Calvez-Kelm</surname><given-names>Florence</given-names></name><xref ref-type="aff" rid="A3">3</xref><xref rid="FN2" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Nguyen-Dumont</surname><given-names>Tu</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Robinot</surname><given-names>Nivonirina</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Hammet</surname><given-names>Fleur</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Odefrey</surname><given-names>Fabrice</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Tsimiklis</surname><given-names>Helen</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Teo</surname><given-names>Zhi L.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Thingholm</surname><given-names>Louise B.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Young</surname><given-names>Erin L.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Voegele</surname><given-names>Catherine</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Lonie</surname><given-names>Andrew</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Pope</surname><given-names>Bernard J.</given-names></name><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Roane</surname><given-names>Terrell C.</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Bell</surname><given-names>Russell</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Hu</surname><given-names>Hao</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Shankaracharya</surname><given-names></given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Huff</surname><given-names>Chad D.</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Ellis</surname><given-names>Jonathan</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Li</surname><given-names>Jun</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Makunin</surname><given-names>Igor V.</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>John</surname><given-names>Esther M.</given-names></name><xref ref-type="aff" rid="A9">9</xref><xref ref-type="aff" rid="A10">10</xref><on-behalf-of>for the Breast Cancer Family Registry</on-behalf-of></contrib><contrib contrib-type="author"><name><surname>Andrulis</surname><given-names>Irene L.</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Terry</surname><given-names>Mary B.</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Daly</surname><given-names>Mary</given-names></name><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Buys</surname><given-names>Saundra S.</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Snyder</surname><given-names>Carrie</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Lynch</surname><given-names>Henry T.</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Devilee</surname><given-names>Peter</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Giles</surname><given-names>Graham G.</given-names></name><xref ref-type="aff" rid="A17">17</xref><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Hopper</surname><given-names>John L.</given-names></name><xref ref-type="aff" rid="A18">18</xref><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Feng</surname><given-names>Bing J.</given-names></name><xref ref-type="aff" rid="A14">14</xref><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Lesueur</surname><given-names>Fabienne</given-names></name><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A21">21</xref><xref rid="FN3" ref-type="author-notes">#</xref></contrib><contrib contrib-type="author"><name><surname>Tavtigian</surname><given-names>Sean V.</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref rid="FN3" ref-type="author-notes">#</xref></contrib><contrib contrib-type="author"><name><surname>Southey</surname><given-names>Melissa C.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref rid="FN3" ref-type="author-notes">#</xref><xref rid="FN1" ref-type="author-notes">ˆ</xref><on-behalf-of>for the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer</on-behalf-of></contrib><contrib contrib-type="author"><name><surname>Goldgar</surname><given-names>David E.</given-names></name><xref ref-type="aff" rid="A14">14</xref><xref ref-type="aff" rid="A20">20</xref><xref rid="FN3" ref-type="author-notes">#</xref><xref rid="FN1" ref-type="author-notes">ˆ</xref></contrib></contrib-group><aff id="A1"><label>1</label>Genetic Epidemiology Laboratory, The University of Melbourne, Victoria 3010, Australia</aff><aff id="A2"><label>2</label>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA</aff><aff id="A3"><label>3</label>Genetic Cancer Susceptibility Group, International Agency for Research on Cancer, 69372 Lyon, France</aff><aff id="A4"><label>4</label>Victorian Life Sciences Computation Initiative, Carlton, Victoria 3010, Australia</aff><aff id="A5"><label>5</label>Department of Computing and Information Systems, The University of Melbourne, Victoria 3010, Australia</aff><aff id="A6"><label>6</label>University of Texas at Austin, Austin, TX 78712, USA</aff><aff id="A7"><label>7</label>Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA</aff><aff id="A8"><label>8</label>The QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD 4006, Australia</aff><aff id="A9"><label>9</label>Cancer Prevention Institute of California, Fremont, CA 94538, USA</aff><aff id="A10"><label>10</label>Department of Health Research and Policy, Stanford Cancer Institute, Stanford, CA 94305, USA</aff><aff id="A11"><label>11</label>Department of Molecular Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada</aff><aff id="A12"><label>12</label>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY 10032, USA</aff><aff id="A13"><label>13</label>Fox Chase Cancer Center, Philadelphia, PA 19111, USA</aff><aff id="A14"><label>14</label>Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA</aff><aff id="A15"><label>15</label>Department of Preventive Medicine, Creighton University, Omaha, NE 68178</aff><aff id="A16"><label>16</label>Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands</aff><aff id="A17"><label>17</label>Centre for Cancer Epidemiology, The Cancer Council Victoria, Carlton, Victoria 3004, Australia</aff><aff id="A18"><label>18</label>Centre for, Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Victoria 3010, Australia</aff><aff id="A19"><label>19</label>School of Public Health, Seoul National University, Seoul, Korea</aff><aff id="A20"><label>20</label>Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT 84132 USA</aff><aff id="A21"><label>21</label>Genetic Epidemiology of Cancer Team, Inserm, U900, Institut Curie, Mines ParisTech</aff><author-notes><corresp id="FN1"><label>ˆ</label>Authors for correspondence: Professor Melissa C. Southey, Department of Pathology, The University of Melbourne, Victoria 3010, Australia. <email>msouthey@unimelb.edu.au</email>, Phone +61 3 8344 4895, Fax +61 3 8344 4004; Professor David E. Goldgar, Department of Dermatology, Huntsman Cancer Institute, Salt Lake City 84112, USA. <email>david.goldgar@hsc.utah.edu</email>, Phone +1 801 585 0337, Fax +1 801 585 0990</corresp><fn id="FN2" fn-type="equal"><label>*</label><p>These authors contributed equally to the work.</p></fn><fn id="FN3" fn-type="equal"><label>#</label><p>These authors contributed equally to the work.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>4</day><month>6</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>02</day><month>5</month><year>2014</year></pub-date><pub-date pub-type="ppub"><month>7</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>1</month><year>2015</year></pub-date><volume>4</volume><issue>7</issue><fpage>804</fpage><lpage>815</lpage><pmc-comment>elocation-id from pubmed: 10.1158/2159-8290.CD-14-0212</pmc-comment>
<abstract><p id="P1">Approximately half of the familial aggregation of breast cancer remains unexplained. A multiple-case breast cancer family exome sequencing study identified three likely pathogenic mutations in <italic>RINT1</italic> (NM_021930.4) not present in public sequencing databases: <italic>RINT1</italic> c.343C>T (p.Q115X), c.1132_1134del (p.M378del) and c.1207G>T (p.D403Y). Based on this finding, a population-based case-control mutation-screening study was conducted and identified 29 carriers of rare (MAF < 0.5%), likely pathogenic variants: 23 in 1,313 early-onset breast cancer cases and 6 in 1,123 frequency-matched controls (OR=3.24, 95%CI 1.29-8.17; p=0.013). <italic>RINT1</italic> mutation screening of probands from 798 multiple-case breast cancer families identified 4additional carriers of rare genetic variants. Analysis of the incidence of first primary cancers in families of women in <italic>RINT1</italic>-mutation carrying families estimated that carriers were at increased risks of Lynch syndrome-spectrum cancers (SIR 3.35, 95% CI 1.7-6.0; P=0.005), particularly for relatives diagnosed with cancer under age 60 years (SIR 10.9, 95%CI 4.7-21; P=0.0003).</p></abstract><kwd-group><kwd>Breast Cancer</kwd><kwd><italic>RINT1</italic></kwd><kwd>Lynch Syndrome</kwd><kwd>Genetic Susceptibility</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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