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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Haplotype structure in Ashkenazi Jewish <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers</title><author><name sortKey="Im, Kate M" sort="Im, Kate M" uniqKey="Im K" first="Kate M." last="Im">Kate M. Im</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21597964</idno><idno type="pmc">3196382</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196382</idno><idno type="RBID">PMC:3196382</idno><idno type="doi">10.1007/s00439-011-1003-z</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">001547</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001547</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Haplotype structure in Ashkenazi Jewish <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers</title><author><name sortKey="Im, Kate M" sort="Im, Kate M" uniqKey="Im K" first="Kate M." last="Im">Kate M. Im</name></author></analytic><series><title level="j">Human genetics</title><idno type="ISSN">0340-6717</idno><idno type="eISSN">1432-1203</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Abstract Three founder mutations in <italic>BRCA1</italic> and <italic>BRCA2</italic> contribute to the risk of hereditary breast and ovarian cancer in Ashkenazi Jews (AJ). They are observed at increased frequency in the AJ compared to other BRCA mutations in Caucasian non-Jews (CNJ). Several authors have proposed that elevated allele frequencies in the surrounding genomic regions reflect adaptive or balancing selection. Such proposals predict long-range linkage dis-equilibrium (LD) resulting from a selective sweep, although genetic drift in a founder population may also act to create long-distance LD. To date, few studies have used the tools of statistical genomics to examine the likelihood of long-range LD at a deleterious locus in a population that faced a genetic bottleneck. We studied the genotypes of hundreds of women from a large international consortium of <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers and found that AJ women exhibited long-range haplotypes compared to CNJ women. More than 50% of the AJ chromosomes with the <italic>BRCA1</italic> 185delAG mutation share an identical 2.1 Mb haplotype and nearly 16% of AJ chromosomes carrying the <italic>BRCA2</italic> 6174delT mutation share a 1.4 Mb haplotype. Simulations based on the best inference of Ashkenazi population demography indicate that long-range haplotypes are expected in the context of a genome-wide survey. Our results are consistent with the hypothesis that a local bottleneck effect from population size constriction events could by chance have resulted in the large haplotype blocks observed at high frequency in the <italic>BRCA1</italic> and <italic>BRCA2</italic> regions of Ashkenazi Jews.</p></div></front></TEI><pmc article-type="research-article" xml:lang="en"><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">7613873</journal-id><journal-id journal-id-type="pubmed-jr-id">4137</journal-id><journal-id journal-id-type="nlm-ta">Hum Genet</journal-id><journal-title-group><journal-title>Human genetics</journal-title></journal-title-group><issn pub-type="ppub">0340-6717</issn><issn pub-type="epub">1432-1203</issn></journal-meta><article-meta><article-id pub-id-type="pmid">21597964</article-id><article-id pub-id-type="pmc">3196382</article-id><article-id pub-id-type="doi">10.1007/s00439-011-1003-z</article-id><article-id pub-id-type="manuscript">NIHMS308595</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Haplotype structure in Ashkenazi Jewish <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Im</surname><given-names>Kate M.</given-names></name></contrib><aff id="A1">Center for Cancer Research, Cancer Inflammation Program, Human Genetics Section, National Cancer Institute, Frederick, MD, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Kirchhoff</surname><given-names>Tomas</given-names></name></contrib><aff id="A2">Clinical Genetics Service, Department of Medicine, Program in Cancer Prevention and Population Research, Program in Cancer Biology and Genetics (RJK), Memorial Sloan-Kettering Cancer Center, New York, NY, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Xianshu</given-names></name></contrib><aff id="A3">Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Green</surname><given-names>Todd</given-names></name></contrib><aff id="A4">Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA</aff><aff id="A5">Program in Medical and Population Genetics, Broad Institute of Harvard University and MIT, Cambridge, USA</aff><aff id="A6">Department of Molecular Biology, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Chow</surname><given-names>Clement Y.</given-names></name></contrib><aff id="A7">Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Vijai</surname><given-names>Joseph</given-names></name></contrib><aff id="A8">Clinical Genetics Service, Department of Medicine, Program in Cancer Prevention and Population Research, Program in Cancer Biology and Genetics (RJK), Memorial Sloan-Kettering Cancer Center, New York, NY, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Korn</surname><given-names>Joshua</given-names></name></contrib><aff id="A9">Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA</aff><aff id="A10">Program in Medical and Population Genetics, Broad Institute of Harvard University and MIT, Cambridge, USA</aff><aff id="A11">Department of Molecular Biology, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Gaudet</surname><given-names>Mia M.</given-names></name></contrib><aff id="A12">Epidemiology Research Program, American Cancer Society, Atlanta, GA, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Fredericksen</surname><given-names>Zachary</given-names></name></contrib><contrib contrib-type="author"><name><surname>Pankratz</surname><given-names>V. Shane</given-names></name></contrib><aff id="A13">Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Guiducci</surname><given-names>Candace</given-names></name></contrib><contrib contrib-type="author"><name><surname>Crenshaw</surname><given-names>Andrew</given-names></name></contrib><aff id="A14">Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA</aff><aff id="A15">Program in Medical and Population Genetics, Broad Institute of Harvard University and MIT, Cambridge, USA</aff><aff id="A16">Department of Molecular Biology, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>McGuffog</surname><given-names>Lesley</given-names></name></contrib><contrib contrib-type="author"><name><surname>Kartsonaki</surname><given-names>Christiana</given-names></name></contrib><contrib contrib-type="author"><name><surname>Morrison</surname><given-names>Jonathan</given-names></name></contrib><aff id="A17">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Healey</surname><given-names>Sue</given-names></name></contrib><aff id="A18">Genetics and Population Health Division, Queensland Institute of Medical Research, Brisbane, Australia</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Sinilnikova</surname><given-names>Olga M.</given-names></name></contrib><aff id="A19">Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon/Centre Léon Bérard, Lyon, France</aff><aff id="A20">Centre Léon Bérard, Université de Lyon, Lyon, France</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Mai</surname><given-names>Phuong L.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Greene</surname><given-names>Mark H.</given-names></name></contrib><aff id="A21">Clinical Genetics Branch, National Cancer Institute, Rockville, MD, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Piedmonte</surname><given-names>Marion</given-names></name></contrib><aff id="A22">GOG Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, NY, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Rubinstein</surname><given-names>Wendy S.</given-names></name></contrib><aff id="A23">NorthShore University Health System, Evanston, IL, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><collab>HEBON</collab></contrib><contrib contrib-type="author"><name><surname>Hogervorst</surname><given-names>Frans B.</given-names></name></contrib><aff id="A24">Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Rookus</surname><given-names>Matti A.</given-names></name></contrib><aff id="A25">Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Collée</surname><given-names>J. Margriet</given-names></name></contrib><aff id="A26">Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Hoogerbrugge</surname><given-names>Nicoline</given-names></name></contrib><aff id="A27">Hereditary Cancer Clinic, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>van Asperen</surname><given-names>Christi J.</given-names></name></contrib><aff id="A28">Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Meijers-Heijboer</surname><given-names>Hanne E. J.</given-names></name></contrib><aff id="A29">Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Van Roozendaal</surname><given-names>Cees E.</given-names></name></contrib><aff id="A30">Department of Clinical Genetics, University Medical Center, Maastricht, The Netherlands</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Caldes</surname><given-names>Trinidad</given-names></name></contrib><contrib contrib-type="author"><name><surname>Perez-Segura</surname><given-names>Pedro</given-names></name></contrib><aff id="A31">Molecular Oncology Laboratory, Hospital Clinico San Carlos, Madrid, Spain</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Jakubowska</surname><given-names>Anna</given-names></name></contrib><contrib contrib-type="author"><name><surname>Lubinski</surname><given-names>Jan</given-names></name></contrib><contrib contrib-type="author"><name><surname>Huzarski</surname><given-names>Tomasz</given-names></name></contrib><aff id="A32">International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Blecharz</surname><given-names>Paweł</given-names></name></contrib><aff id="A33">Center of Oncology, Maria Sklodowska-Curie Memorial Institute, Kraków, Poland</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Nevanlinna</surname><given-names>Heli</given-names></name></contrib><aff id="A34">Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Aittomäki</surname><given-names>Kristiina</given-names></name></contrib><aff id="A35">Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Lazaro</surname><given-names>Conxi</given-names></name></contrib><contrib contrib-type="author"><name><surname>Blanco</surname><given-names>Ignacio</given-names></name></contrib><aff id="A36">Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Barkardottir</surname><given-names>Rosa B.</given-names></name></contrib><aff id="A37">Department of Pathology, Landspitali-LSH, Reykjavik, Iceland</aff><aff id="A38">Faculty of Medicine, University of Iceland, Reykjavik, Iceland</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Montagna</surname><given-names>Marco</given-names></name></contrib><aff id="A39">Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV, IRCCS, Padua, Italy</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>D'Andrea</surname><given-names>Emma</given-names></name></contrib><aff id="A40">Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV, IRCCS, Padua, Italy</aff><aff id="A41">Department of Oncology and Surgical Sciences, University of Padua, Padua, Italy</aff></contrib-group><contrib-group><contrib contrib-type="author"><collab>kConFab</collab></contrib><aff id="A42">Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Centre, Melbourne, Australia</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Devilee</surname><given-names>Peter</given-names></name></contrib><aff id="A43">Department of Human Genetics and Pathology, Leiden University Medical Center, Leiden, The Netherlands</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Olopade</surname><given-names>Olufunmilayo I.</given-names></name></contrib><aff id="A44">Center for Clinical Cancer Genetics and Global Health, Department of Medicine, University of Chicago Medical Center, Chicago, IL, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Neuhausen</surname><given-names>Susan L.</given-names></name></contrib><aff id="A45">Department of Population Sciences, The Beckman Research Institute of the City of Hope, Duarte, CA, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Peissel</surname><given-names>Bernard</given-names></name></contrib><aff id="A46">Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Bonanni</surname><given-names>Bernardo</given-names></name></contrib><aff id="A47">Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Peterlongo</surname><given-names>Paolo</given-names></name></contrib><aff id="A48">Unit of Genetic Susceptibility to Cancer, Department of Experimental Oncology and Molecular Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy</aff><aff id="A49">IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Singer</surname><given-names>Christian F.</given-names></name></contrib><aff id="A50">Department of Obstetrics and Gynecology, University of Vienna, Vienna, Austria</aff><aff id="A51">Comprehensive Cancer Medical Center, University of Vienna, Vienna, Austria</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Rennert</surname><given-names>Gad</given-names></name></contrib><contrib contrib-type="author"><name><surname>Lejbkowicz</surname><given-names>Flavio</given-names></name></contrib><aff id="A52">CHS National Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Andrulis</surname><given-names>Irene L.</given-names></name></contrib><aff id="A53">Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, Canada</aff><aff id="A54">Cancer Care Ontario, University of Toronto, Toronto, ON, Canada</aff><aff id="A55">Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada</aff><aff id="A56">Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Glendon</surname><given-names>Gord</given-names></name></contrib><aff id="A57">Cancer Care Ontario, University of Toronto, Toronto, ON, Canada</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Ozcelik</surname><given-names>Hilmi</given-names></name></contrib><aff id="A58">Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, Canada</aff><aff id="A59">Cancer Care Ontario, University of Toronto, Toronto, ON, Canada</aff><aff id="A60">Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada</aff></contrib-group><contrib-group><contrib contrib-type="author"><collab>Ontario Cancer Genetics Network</collab></contrib><aff id="A61">Cancer Care Ontario, University of Toronto, Toronto, ON, Canada</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Toland</surname><given-names>Amanda Ewart</given-names></name></contrib><aff id="A62">Department of Molecular Virology Immunology, and Medical Genetics and Internal Medicine, The Ohio State University, Columbus, OH, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Caligo</surname><given-names>Maria Adelaide</given-names></name></contrib><aff id="A63">Section of Genetic Oncology, Department of Laboratory Medicine, University of Pisa and Santa Chiara University Hospital, Pisa, Italy</aff></contrib-group><contrib-group><contrib contrib-type="author"><collab>SWE-BRCA</collab></contrib><aff id="A64">Department of Oncology, Lund University, Lund, Sweden</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Beattie</surname><given-names>Mary S.</given-names></name></contrib><aff id="A65">Division of General Internal Medicine, Department of Medicine, University of California San Francisco, San Francisco, CA, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Chan</surname><given-names>Salina</given-names></name></contrib><aff id="A66">Cancer Risk Program, University of California San Francisco, Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><collab>UKFOCR</collab></contrib><aff id="A67">Department of Oncology, University of Cambridge, Cambridge, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Domchek</surname><given-names>Susan M.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Nathanson</surname><given-names>Katherine L.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Rebbeck</surname><given-names>Timothy R.</given-names></name></contrib><aff id="A68">Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Phelan</surname><given-names>Catherine</given-names></name></contrib><aff id="A69">Moffitt Cancer Center, Tampa, FL, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Narod</surname><given-names>Steven</given-names></name></contrib><aff id="A70">Women's College Research Institute, Toronto, ON, Canada</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>John</surname><given-names>Esther M.</given-names></name></contrib><aff id="A71">Cancer Prevention Institute of California, Fremont, CA, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Hopper</surname><given-names>John L.</given-names></name></contrib><aff id="A72">Centre for Genetic Epidemiology, University of Melbourne, Victoria, Australia</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Buys</surname><given-names>Saundra S.</given-names></name></contrib><aff id="A73">Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Daly</surname><given-names>Mary B.</given-names></name></contrib><aff id="A74">Fox Chase Cancer Center, Philadelphia, PA, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Southey</surname><given-names>Melissa C.</given-names></name></contrib><aff id="A75">Department of Pathology, The University of Melbourne, Victoria 3010, Australia</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Terry</surname><given-names>Mary-Beth</given-names></name></contrib><aff id="A76">Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Tung</surname><given-names>Nadine</given-names></name></contrib><aff id="A77">Division of Hematology-Oncology, Beth Israel Deaconess Medical Center, Brookline Avenue, Boston, MA, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Hansen</surname><given-names>Thomas v. O.</given-names></name></contrib><aff id="A78">Genomic Medicine, Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Osorio</surname><given-names>Ana</given-names></name></contrib><aff id="A79">Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain</aff><aff id="A80">Spanish Network on Rare Diseases (CIBERER), Madrid, Spain</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Benitez</surname><given-names>Javier</given-names></name></contrib><aff id="A81">Spanish Network on Rare Diseases (CIBERER), Madrid, Spain</aff><aff id="A82">Human Genetics Group and Genotyping Unit, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Durán</surname><given-names>Mercedes</given-names></name></contrib><aff id="A83">Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Weitzel</surname><given-names>Jeffrey N.</given-names></name></contrib><aff id="A84">Division of Clinical Cancer Genetics, City of Hope Cancer Center, Duarte, CA, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Garber</surname><given-names>Judy</given-names></name></contrib><aff id="A85">Dana Farber Cancer Institute, Harvard University, Boston, MA, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Hamann</surname><given-names>Ute</given-names></name></contrib><aff id="A86">Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany</aff></contrib-group><contrib-group><contrib contrib-type="author"><collab>EMBRACE</collab></contrib><contrib contrib-type="author"><name><surname>Peock</surname><given-names>Susan</given-names></name></contrib><contrib contrib-type="author"><name><surname>Cook</surname><given-names>Margaret</given-names></name></contrib><contrib contrib-type="author"><name><surname>Oliver</surname><given-names>Clare T.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Frost</surname><given-names>Debra</given-names></name></contrib><contrib contrib-type="author"><name><surname>Platte</surname><given-names>Radka</given-names></name></contrib><aff id="A87">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Evans</surname><given-names>D. Gareth</given-names></name></contrib><aff id="A88">Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Eeles</surname><given-names>Ros</given-names></name></contrib><aff id="A89">Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Surrey, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Izatt</surname><given-names>Louise</given-names></name></contrib><aff id="A90">Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Paterson</surname><given-names>Joan</given-names></name></contrib><aff id="A91">Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Brewer</surname><given-names>Carole</given-names></name></contrib><aff id="A92">Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Hodgson</surname><given-names>Shirley</given-names></name></contrib><aff id="A93">Clinical Genetics Department, St Georges Hospital, University of London, London, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Morrison</surname><given-names>Patrick J.</given-names></name></contrib><aff id="A94">Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Porteous</surname><given-names>Mary</given-names></name></contrib><aff id="A95">South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Walker</surname><given-names>Lisa</given-names></name></contrib><aff id="A96">Oxford Regional Genetics Service, Churchill Hospital, Oxford, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Rogers</surname><given-names>Mark T.</given-names></name></contrib><aff id="A97">All Wales Medical Genetics Services, University Hospital of Wales, Cardiff, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Side</surname><given-names>Lucy E.</given-names></name></contrib><aff id="A98">North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Godwin</surname><given-names>Andrew K.</given-names></name></contrib><aff id="A99">Department of Pathology and Laboratory, University of Kansas Medical Center, Kansas City, KS, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Schmutzler</surname><given-names>Rita K.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Wappenschmidt</surname><given-names>Barbara</given-names></name></contrib><aff id="A100">University Hospital of Cologne, Cologne, Germany</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Laitman</surname><given-names>Yael</given-names></name></contrib><aff id="A101">The Susan Levy Gertner Oncogenetics unit, Institute of Genetics, Sheba Medical Center, Tel Hashomer, Israel</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Meindl</surname><given-names>Alfons</given-names></name></contrib><aff id="A102">Technical University Munich, Munich, Germany</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Deissler</surname><given-names>Helmut</given-names></name></contrib><aff id="A103">University Hospital Ulm, Ulm, Germany</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Varon-Mateeva</surname><given-names>Raymonda</given-names></name></contrib><aff id="A104">Institute of Human Genetics, Charite Campus Virchow Klinikum, Berlin, Germany</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Preisler-Adams</surname><given-names>Sabine</given-names></name></contrib><aff id="A105">Institute of Human Genetics, University of Münster, Münster, Germany</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Kast</surname><given-names>Karin</given-names></name></contrib><aff id="A106">Department of Gynaecology and Obstetrics, University Hospital Carl Gustav, Technical University Dresden, Dresden, Germany</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Venat-Bouvet</surname><given-names>Laurence</given-names></name></contrib><aff id="A107">Department of Medical Oncology, Centre Hospitalier Universitaire Dupuytren, Limoges, France</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Stoppa-Lyonnet</surname><given-names>Dominique</given-names></name></contrib><aff id="A108">INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Chenevix-Trench</surname><given-names>Georgia</given-names></name></contrib><aff id="A109">Genetics and Population Health Division, Queensland Institute of Medical Research, Brisbane, Australia</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Easton</surname><given-names>Douglas F.</given-names></name></contrib><aff id="A110">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Klein</surname><given-names>Robert J.</given-names></name></contrib><aff id="A111">Clinical Genetics Service, Department of Medicine, Program in Cancer Prevention and Population Research, Program in Cancer Biology and Genetics (RJK), Memorial Sloan-Kettering Cancer Center, New York, NY, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Daly</surname><given-names>Mark J.</given-names></name></contrib><aff id="A112">Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA</aff><aff id="A113">Program in Medical and Population Genetics, Broad Institute of Harvard University and MIT, Cambridge, USA</aff><aff id="A114">Department of Molecular Biology, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Friedman</surname><given-names>Eitan</given-names></name></contrib><aff id="A115">The Susan Levy Gertner Oncogenetics unit, Institute of Genetics, Sheba Medical Center, Tel Hashomer, Israel</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Dean</surname><given-names>Michael</given-names></name></contrib><aff id="A116">Center for Cancer Research, Cancer Inflammation Program, Human Genetics Section, National Cancer Institute, Frederick, MD, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Clark</surname><given-names>Andrew G.</given-names></name></contrib><aff id="A117">Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Altshuler</surname><given-names>David M.</given-names></name></contrib><aff id="A118">Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA</aff><aff id="A119">Program in Medical and Population Genetics, Broad Institute of Harvard University and MIT, Cambridge, USA</aff><aff id="A120">Department of Molecular Biology, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Antoniou</surname><given-names>Antonis C.</given-names></name></contrib><aff id="A121">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Couch</surname><given-names>Fergus J.</given-names></name></contrib><aff id="A122">Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Offit</surname><given-names>Kenneth</given-names></name></contrib><aff id="A123">Clinical Genetics Service, Department of Medicine, Program in Cancer Prevention and Population Research, Program in Cancer Biology and Genetics (RJK), Memorial Sloan-Kettering Cancer Center, New York, NY, USA</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Gold</surname><given-names>Bert</given-names></name></contrib><aff id="A124">Center for Cancer Research, Cancer Inflammation Program, Human Genetics Section, National Cancer Institute, Frederick, MD, USA</aff></contrib-group><author-notes><corresp id="CR1">B. Gold NCI-Frederick, Box B, Boyles Street Fort Detrick, Frederick, MD 21702, USA <email>golda@mail.nih.gov</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>14</day><month>7</month><year>2011</year></pub-date><pub-date pub-type="epub"><day>20</day><month>5</month><year>2011</year></pub-date><pub-date pub-type="ppub"><month>11</month><year>2011</year></pub-date><pub-date pub-type="pmc-release"><day>1</day><month>11</month><year>2012</year></pub-date><volume>130</volume><issue>5</issue><fpage>685</fpage><lpage>699</lpage><permissions><copyright-statement>© Springer-Verlag (outside the USA) 2011</copyright-statement><copyright-year>2011</copyright-year></permissions><abstract><p id="P1">Abstract Three founder mutations in <italic>BRCA1</italic> and <italic>BRCA2</italic> contribute to the risk of hereditary breast and ovarian cancer in Ashkenazi Jews (AJ). They are observed at increased frequency in the AJ compared to other BRCA mutations in Caucasian non-Jews (CNJ). Several authors have proposed that elevated allele frequencies in the surrounding genomic regions reflect adaptive or balancing selection. Such proposals predict long-range linkage dis-equilibrium (LD) resulting from a selective sweep, although genetic drift in a founder population may also act to create long-distance LD. To date, few studies have used the tools of statistical genomics to examine the likelihood of long-range LD at a deleterious locus in a population that faced a genetic bottleneck. We studied the genotypes of hundreds of women from a large international consortium of <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers and found that AJ women exhibited long-range haplotypes compared to CNJ women. More than 50% of the AJ chromosomes with the <italic>BRCA1</italic> 185delAG mutation share an identical 2.1 Mb haplotype and nearly 16% of AJ chromosomes carrying the <italic>BRCA2</italic> 6174delT mutation share a 1.4 Mb haplotype. Simulations based on the best inference of Ashkenazi population demography indicate that long-range haplotypes are expected in the context of a genome-wide survey. Our results are consistent with the hypothesis that a local bottleneck effect from population size constriction events could by chance have resulted in the large haplotype blocks observed at high frequency in the <italic>BRCA1</italic> and <italic>BRCA2</italic> regions of Ashkenazi Jews.</p></abstract><funding-group><award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source><award-id>RC4 CA153828-01 || CA</award-id></award-group><award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source><award-id>R01 CA116167-05 || CA</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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