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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Identification of new breast cancer predisposition genes via whole exome sequencing</title><author><name sortKey="Southey, Mc" sort="Southey, Mc" uniqKey="Southey M" first="Mc" last="Southey">Mc Southey</name><affiliation><nlm:aff id="I1">Genetic Epidemiology Lab, The University of Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Park, Dj" sort="Park, Dj" uniqKey="Park D" first="Dj" last="Park">Dj Park</name><affiliation><nlm:aff id="I1">Genetic Epidemiology Lab, The University of Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Lesueur, F" sort="Lesueur, F" uniqKey="Lesueur F" first="F" last="Lesueur">F. Lesueur</name><affiliation><nlm:aff id="I2">International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Odefrey, F" sort="Odefrey, F" uniqKey="Odefrey F" first="F" last="Odefrey">F. Odefrey</name><affiliation><nlm:aff id="I1">Genetic Epidemiology Lab, The University of Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Nguyen Dumont, T" sort="Nguyen Dumont, T" uniqKey="Nguyen Dumont T" first="T" last="Nguyen-Dumont">T. Nguyen-Dumont</name><affiliation><nlm:aff id="I1">Genetic Epidemiology Lab, The University of Melbourne, Victoria, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="I2">International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Hammet, F" sort="Hammet, F" uniqKey="Hammet F" first="F" last="Hammet">F. Hammet</name><affiliation><nlm:aff id="I1">Genetic Epidemiology Lab, The University of Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Neuhausen, Sl" sort="Neuhausen, Sl" uniqKey="Neuhausen S" first="Sl" last="Neuhausen">Sl Neuhausen</name><affiliation><nlm:aff id="I3">Dept of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA</nlm:aff></affiliation></author><author><name sortKey="John, Em" sort="John, Em" uniqKey="John E" first="Em" last="John">Em John</name><affiliation><nlm:aff id="I4">Cancer Prevention Institute of California, Fremont, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Andrulis, Il" sort="Andrulis, Il" uniqKey="Andrulis I" first="Il" last="Andrulis">Il Andrulis</name><affiliation><nlm:aff id="I5">Ontario Cancer Genetics Network, Cancer Care Ontario, Mount Sinai Hospital, Toronto, ON, Canada</nlm:aff></affiliation></author><author><name sortKey="Chenevix Trench, G" sort="Chenevix Trench, G" uniqKey="Chenevix Trench G" first="G" last="Chenevix-Trench">G. Chenevix-Trench</name><affiliation><nlm:aff id="I6">Queensland Institute of Medical Research, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="Baglietto, L" sort="Baglietto, L" uniqKey="Baglietto L" first="L" last="Baglietto">L. Baglietto</name><affiliation><nlm:aff id="I7">Centre for Cancer Epidemiology, The Cancer Council Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Le Calvez Kelm, F" sort="Le Calvez Kelm, F" uniqKey="Le Calvez Kelm F" first="F" last="Le Calvez-Kelm">F. Le Calvez-Kelm</name><affiliation><nlm:aff id="I2">International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Pertesi, M" sort="Pertesi, M" uniqKey="Pertesi M" first="M" last="Pertesi">M. Pertesi</name><affiliation><nlm:aff id="I2">International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Lonie, A" sort="Lonie, A" uniqKey="Lonie A" first="A" last="Lonie">A. Lonie</name><affiliation><nlm:aff id="I8">Victorian Life Sciences Computation Initiative (VLSCI), Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Pope, B" sort="Pope, B" uniqKey="Pope B" first="B" last="Pope">B. Pope</name><affiliation><nlm:aff id="I8">Victorian Life Sciences Computation Initiative (VLSCI), Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Sinilnikova, O" sort="Sinilnikova, O" uniqKey="Sinilnikova O" first="O" last="Sinilnikova">O. Sinilnikova</name><affiliation><nlm:aff id="I9">Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard, Université de Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Tsimiklis, H" sort="Tsimiklis, H" uniqKey="Tsimiklis H" first="H" last="Tsimiklis">H. Tsimiklis</name><affiliation><nlm:aff id="I1">Genetic Epidemiology Lab, The University of Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Giles, Gg" sort="Giles, Gg" uniqKey="Giles G" first="Gg" last="Giles">Gg Giles</name><affiliation><nlm:aff id="I7">Centre for Cancer Epidemiology, The Cancer Council Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Hopper, Jl" sort="Hopper, Jl" uniqKey="Hopper J" first="Jl" last="Hopper">Jl Hopper</name><affiliation><nlm:aff id="I10">Centre for Molecular Environmental Genetic and Analytical Epidemiology, School of Population Health, The University of Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Tavtigian, Sv" sort="Tavtigian, Sv" uniqKey="Tavtigian S" first="Sv" last="Tavtigian">Sv Tavtigian</name><affiliation><nlm:aff id="I11">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine Salt Lake City, USA</nlm:aff></affiliation></author><author><name sortKey="Goldgar, De" sort="Goldgar, De" uniqKey="Goldgar D" first="De" last="Goldgar">De Goldgar</name><affiliation><nlm:aff id="I12">Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmc">3327171</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3327171</idno><idno type="RBID">PMC:3327171</idno><idno type="doi">10.1186/1897-4287-10-S2-A40</idno><idno type="pmid">NONE</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001157</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001157</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Identification of new breast cancer predisposition genes via whole exome sequencing</title><author><name sortKey="Southey, Mc" sort="Southey, Mc" uniqKey="Southey M" first="Mc" last="Southey">Mc Southey</name><affiliation><nlm:aff id="I1">Genetic Epidemiology Lab, The University of Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Park, Dj" sort="Park, Dj" uniqKey="Park D" first="Dj" last="Park">Dj Park</name><affiliation><nlm:aff id="I1">Genetic Epidemiology Lab, The University of Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Lesueur, F" sort="Lesueur, F" uniqKey="Lesueur F" first="F" last="Lesueur">F. Lesueur</name><affiliation><nlm:aff id="I2">International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Odefrey, F" sort="Odefrey, F" uniqKey="Odefrey F" first="F" last="Odefrey">F. Odefrey</name><affiliation><nlm:aff id="I1">Genetic Epidemiology Lab, The University of Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Nguyen Dumont, T" sort="Nguyen Dumont, T" uniqKey="Nguyen Dumont T" first="T" last="Nguyen-Dumont">T. Nguyen-Dumont</name><affiliation><nlm:aff id="I1">Genetic Epidemiology Lab, The University of Melbourne, Victoria, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="I2">International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Hammet, F" sort="Hammet, F" uniqKey="Hammet F" first="F" last="Hammet">F. Hammet</name><affiliation><nlm:aff id="I1">Genetic Epidemiology Lab, The University of Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Neuhausen, Sl" sort="Neuhausen, Sl" uniqKey="Neuhausen S" first="Sl" last="Neuhausen">Sl Neuhausen</name><affiliation><nlm:aff id="I3">Dept of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA</nlm:aff></affiliation></author><author><name sortKey="John, Em" sort="John, Em" uniqKey="John E" first="Em" last="John">Em John</name><affiliation><nlm:aff id="I4">Cancer Prevention Institute of California, Fremont, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Andrulis, Il" sort="Andrulis, Il" uniqKey="Andrulis I" first="Il" last="Andrulis">Il Andrulis</name><affiliation><nlm:aff id="I5">Ontario Cancer Genetics Network, Cancer Care Ontario, Mount Sinai Hospital, Toronto, ON, Canada</nlm:aff></affiliation></author><author><name sortKey="Chenevix Trench, G" sort="Chenevix Trench, G" uniqKey="Chenevix Trench G" first="G" last="Chenevix-Trench">G. Chenevix-Trench</name><affiliation><nlm:aff id="I6">Queensland Institute of Medical Research, Queensland, Australia</nlm:aff></affiliation></author><author><name sortKey="Baglietto, L" sort="Baglietto, L" uniqKey="Baglietto L" first="L" last="Baglietto">L. Baglietto</name><affiliation><nlm:aff id="I7">Centre for Cancer Epidemiology, The Cancer Council Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Le Calvez Kelm, F" sort="Le Calvez Kelm, F" uniqKey="Le Calvez Kelm F" first="F" last="Le Calvez-Kelm">F. Le Calvez-Kelm</name><affiliation><nlm:aff id="I2">International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Pertesi, M" sort="Pertesi, M" uniqKey="Pertesi M" first="M" last="Pertesi">M. Pertesi</name><affiliation><nlm:aff id="I2">International Agency for Research on Cancer, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Lonie, A" sort="Lonie, A" uniqKey="Lonie A" first="A" last="Lonie">A. Lonie</name><affiliation><nlm:aff id="I8">Victorian Life Sciences Computation Initiative (VLSCI), Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Pope, B" sort="Pope, B" uniqKey="Pope B" first="B" last="Pope">B. Pope</name><affiliation><nlm:aff id="I8">Victorian Life Sciences Computation Initiative (VLSCI), Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Sinilnikova, O" sort="Sinilnikova, O" uniqKey="Sinilnikova O" first="O" last="Sinilnikova">O. Sinilnikova</name><affiliation><nlm:aff id="I9">Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard, Université de Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Tsimiklis, H" sort="Tsimiklis, H" uniqKey="Tsimiklis H" first="H" last="Tsimiklis">H. Tsimiklis</name><affiliation><nlm:aff id="I1">Genetic Epidemiology Lab, The University of Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Giles, Gg" sort="Giles, Gg" uniqKey="Giles G" first="Gg" last="Giles">Gg Giles</name><affiliation><nlm:aff id="I7">Centre for Cancer Epidemiology, The Cancer Council Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Hopper, Jl" sort="Hopper, Jl" uniqKey="Hopper J" first="Jl" last="Hopper">Jl Hopper</name><affiliation><nlm:aff id="I10">Centre for Molecular Environmental Genetic and Analytical Epidemiology, School of Population Health, The University of Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Tavtigian, Sv" sort="Tavtigian, Sv" uniqKey="Tavtigian S" first="Sv" last="Tavtigian">Sv Tavtigian</name><affiliation><nlm:aff id="I11">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine Salt Lake City, USA</nlm:aff></affiliation></author><author><name sortKey="Goldgar, De" sort="Goldgar, De" uniqKey="Goldgar D" first="De" last="Goldgar">De Goldgar</name><affiliation><nlm:aff id="I12">Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, USA</nlm:aff></affiliation></author></analytic><series><title level="j">Hereditary Cancer in Clinical Practice</title><idno type="ISSN">1731-2302</idno><idno type="eISSN">1897-4287</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Feng" uniqKey="Feng">Feng</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Park" uniqKey="Park">Park</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="abstract" xml:lang="en"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Hered Cancer Clin Pract</journal-id><journal-id journal-id-type="iso-abbrev">Hered Cancer Clin Pract</journal-id><journal-title-group><journal-title>Hereditary Cancer in Clinical Practice</journal-title></journal-title-group><issn pub-type="ppub">1731-2302</issn><issn pub-type="epub">1897-4287</issn><publisher><publisher-name>BioMed Central</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmc">3327171</article-id><article-id pub-id-type="publisher-id">1897-4287-10-S2-A40</article-id><article-id pub-id-type="doi">10.1186/1897-4287-10-S2-A40</article-id><article-categories><subj-group subj-group-type="heading"><subject>Meeting Abstract</subject></subj-group></article-categories><title-group><article-title>Identification of new breast cancer predisposition genes via whole exome sequencing</article-title></title-group><contrib-group><contrib contrib-type="author" corresp="yes" id="A1"><name><surname>Southey</surname><given-names>MC</given-names></name><xref ref-type="aff" rid="I1">1</xref></contrib><contrib contrib-type="author" id="A2"><name><surname>Park</surname><given-names>DJ</given-names></name><xref ref-type="aff" rid="I1">1</xref></contrib><contrib contrib-type="author" id="A3"><name><surname>Lesueur</surname><given-names>F</given-names></name><xref ref-type="aff" rid="I2">2</xref></contrib><contrib contrib-type="author" id="A4"><name><surname>Odefrey</surname><given-names>F</given-names></name><xref ref-type="aff" rid="I1">1</xref></contrib><contrib contrib-type="author" id="A5"><name><surname>Nguyen-Dumont</surname><given-names>T</given-names></name><xref ref-type="aff" rid="I1">1</xref><xref ref-type="aff" rid="I2">2</xref></contrib><contrib contrib-type="author" id="A6"><name><surname>Hammet</surname><given-names>F</given-names></name><xref ref-type="aff" rid="I1">1</xref></contrib><contrib contrib-type="author" id="A7"><name><surname>Neuhausen</surname><given-names>SL</given-names></name><xref ref-type="aff" rid="I3">3</xref></contrib><contrib contrib-type="author" id="A8"><name><surname>John</surname><given-names>EM</given-names></name><xref ref-type="aff" rid="I4">4</xref></contrib><contrib contrib-type="author" id="A9"><name><surname>Andrulis</surname><given-names>IL</given-names></name><xref ref-type="aff" rid="I5">5</xref></contrib><contrib contrib-type="author" id="A10"><name><surname>Chenevix-Trench</surname><given-names>G</given-names></name><xref ref-type="aff" rid="I6">6</xref></contrib><contrib contrib-type="author" id="A11"><name><surname>Baglietto</surname><given-names>L</given-names></name><xref ref-type="aff" rid="I7">7</xref></contrib><contrib contrib-type="author" id="A12"><name><surname>Le Calvez-Kelm</surname><given-names>F</given-names></name><xref ref-type="aff" rid="I2">2</xref></contrib><contrib contrib-type="author" id="A13"><name><surname>Pertesi</surname><given-names>M</given-names></name><xref ref-type="aff" rid="I2">2</xref></contrib><contrib contrib-type="author" id="A14"><name><surname>Lonie</surname><given-names>A</given-names></name><xref ref-type="aff" rid="I8">8</xref></contrib><contrib contrib-type="author" id="A15"><name><surname>Pope</surname><given-names>B</given-names></name><xref ref-type="aff" rid="I8">8</xref></contrib><contrib contrib-type="author" id="A16"><name><surname>Sinilnikova</surname><given-names>O</given-names></name><xref ref-type="aff" rid="I9">9</xref></contrib><contrib contrib-type="author" id="A17"><name><surname>Tsimiklis</surname><given-names>H</given-names></name><xref ref-type="aff" rid="I1">1</xref></contrib><on-behalf-of>MCCS</on-behalf-of><on-behalf-of>BCFR</on-behalf-of><on-behalf-of>kConFab</on-behalf-of><contrib contrib-type="author" id="A21"><name><surname>Giles</surname><given-names>GG</given-names></name><xref ref-type="aff" rid="I7">7</xref></contrib><contrib contrib-type="author" id="A22"><name><surname>Hopper</surname><given-names>JL</given-names></name><xref ref-type="aff" rid="I10">10</xref></contrib><contrib contrib-type="author" id="A23"><name><surname>Tavtigian</surname><given-names>SV</given-names></name><xref ref-type="aff" rid="I11">11</xref></contrib><contrib contrib-type="author" id="A24"><name><surname>Goldgar</surname><given-names>DE</given-names></name><xref ref-type="aff" rid="I12">12</xref></contrib></contrib-group><aff id="I1"><label>1</label>Genetic Epidemiology Lab, The University of Melbourne, Victoria, Australia</aff><aff id="I2"><label>2</label>International Agency for Research on Cancer, Lyon, France</aff><aff id="I3"><label>3</label>Dept of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA</aff><aff id="I4"><label>4</label>Cancer Prevention Institute of California, Fremont, CA, USA</aff><aff id="I5"><label>5</label>Ontario Cancer Genetics Network, Cancer Care Ontario, Mount Sinai Hospital, Toronto, ON, Canada</aff><aff id="I6"><label>6</label>Queensland Institute of Medical Research, Queensland, Australia</aff><aff id="I7"><label>7</label>Centre for Cancer Epidemiology, The Cancer Council Victoria, Australia</aff><aff id="I8"><label>8</label>Victorian Life Sciences Computation Initiative (VLSCI), Victoria, Australia</aff><aff id="I9"><label>9</label>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon/Centre Léon Bérard, Université de Lyon, France</aff><aff id="I10"><label>10</label>Centre for Molecular Environmental Genetic and Analytical Epidemiology, School of Population Health, The University of Melbourne, Victoria, Australia</aff><aff id="I11"><label>11</label>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine Salt Lake City, USA</aff><aff id="I12"><label>12</label>Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, USA</aff><pub-date pub-type="collection"><year>2012</year></pub-date><pub-date pub-type="epub"><day>12</day><month>4</month><year>2012</year></pub-date><volume>10</volume><issue>Suppl 2</issue><supplement><named-content content-type="supplement-title">Familial Aspects of Cancer 2011 Research and Practice</named-content><named-content content-type="supplement-editor">Rodney Scott</named-content></supplement><fpage>A40</fpage><lpage>A40</lpage><permissions><copyright-statement>Copyright ©2012 Southey et al; licensee BioMed Central Ltd.</copyright-statement><copyright-year>2012</copyright-year><copyright-holder>Southey et al; licensee BioMed Central Ltd.</copyright-holder><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/2.0"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/2.0">http://creativecommons.org/licenses/by/2.0</ext-link>), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><self-uri xlink:href="http://www.hccpjournal.com/content/10/S2/A40"></self-uri><conference><conf-date>23-26 August 2011</conf-date><conf-name>Familial Aspects of Cancer 2011 Research and Practice: A combined meeting of kConFab, Australian Breast Cancer Family Study, Australian Colorectal Cancer Family Study, Australian Ovarian Cancer Study, Family Cancer Clinics of Australia and New Zealand and kConFab</conf-name><conf-loc>Kingscliff, Australia</conf-loc></conference></article-meta></front><body><sec><title></title><p>The application of massively parallel sequencing (MPS) platforms has begun to revolutionize our understanding of the immense variation in the human genome and the complexity that can underlie genetic susceptibility to disease. The utility of exome capture MPS through the identification of genes for rare Mendelian disorders based on analysis of only a few individuals has been eloquently demonstrated. Common diseases such as breast cancer present substantially increased complexity in terms of locus, allelic and phenotypic heterogeneity, as well as complex relationships between genotype and phenotype (reduced penetrance, phenocopies etc.). With careful consideration of study design [<xref ref-type="bibr" rid="B1">1</xref>], thoughtful selection of families from our international resources (whole exome sequencing of two highly selected affected members of multiple-case breast cancer families), and a well-developed strategy (analytical pipeline) for distinguishing the few true breast cancer susceptibility genes from the many genes that have rare genetic variants that could plausibly alter protein function, we are advancing a large program of work aimed at identifying the majority of the “missing heritability” of breast cancer.</p><p>Our early findings demonstrate that:</p><p>1) despite very plausible biological roles, some genetic variants in some genes predicted to be damaging by SIFT and Polyphen2 do not appear to be associated with breast cancer risk [<xref ref-type="bibr" rid="B2">2</xref>].</p><p>2) application of our strategy can identify new breast cancer susceptibility genes. During the early conduct of this program, we identified a family with a protein truncating mutation in a gene involved in DNA repair. Follow-up has included mutation screening of:</p><p>a) youngest affected members of 250 multiple-case breast cancer families,</p><p>b) cases and controls participating in Australian population-based studies of breast cancer (ABCFS and MCCS)</p><p>c) cases and controls in an international population-based case-control-family resource (BCFR)</p><p>To date, these analyses have identified 6 families with frameshift or evolutionarily unlikely missense mutations in this gene. Features of these families include multiple-cases of early-onset female breast cancer with some potentially other interesting features such as early-onset male breast cancer and pancreatic cancer. These mutations have not been found in approximately 3000 unaffected population-based controls without a family history of breast cancer.</p><p>We are continuing to expand our dataset to include the exome sequences of further families and coordinating the follow-up of candidate genes using appropriate MPS platforms and as founding partners of a newly formed international consortium of breast cancer exome sequencing researchers.</p></sec></body><back><ref-list><ref id="B1"><mixed-citation publication-type="other"><name><surname>Feng</surname></name><etal></etal><source>PLoS ONE</source><comment>(accepted)</comment></mixed-citation></ref><ref id="B2"><mixed-citation publication-type="other"><name><surname>Park</surname></name><etal></etal><source>BCRT</source><comment>(submitted)</comment></mixed-citation></ref></ref-list></back></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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