{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T19:21:37Z","timestamp":1787167297920,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,1,26]],"date-time":"2022-01-26T00:00:00Z","timestamp":1643155200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Approximately 1% of the Ashkenazi Jewish population carries the\n                    <jats:italic>BRCA2<\/jats:italic>\n                    6174delT (c.5946del) pathogenic variant. It is important to have accurate knowledge of the risks of breast and ovarian cancer associated with this specific variant so that women may be counseled accordingly. In this prospective study, we estimated the risks of breast and ovarian cancer associated with the 6174delT variant compared with the risks for other pathogenic variants in the\n                    <jats:italic>BRCA2<\/jats:italic>\n                    gene. The annual risk for developing breast cancer was significantly lower in 246 women who carried the 6174delT variant compared with 721 non\u2010Jewish women who carried a variant at any other locus in\n                    <jats:italic>BRCA2<\/jats:italic>\n                    (1.2% per year vs. 2.4% per year,\n                    <jats:italic>p<\/jats:italic>\n                    \u00a0=\u00a00.003). We estimated the cumulative risk of breast cancer from age 30 to 70 to be 39% for carriers of the\n                    <jats:italic>BRCA2<\/jats:italic>\n                    6174delT variant and 61% for carriers of other\n                    <jats:italic>BRCA2<\/jats:italic>\n                    variants. The annual risk for ovarian or fallopian tube cancer was 0.51% per year for the 233 women who carried the 6174delT variant compared to 0.22% per year for the 1128 carriers of other\n                    <jats:italic>BRCA<\/jats:italic>\n                    2 variants; the difference was not significant. Lower risks for breast cancer associated with 6174delT may not impact screening and prevention choices, however, the discussion should be based on accurate risk assessment.\n                  <\/jats:p>","DOI":"10.1111\/cge.14098","type":"journal-article","created":{"date-parts":[[2021,12,12]],"date-time":"2021-12-12T21:33:45Z","timestamp":1639344825000},"page":"317-323","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele\n                    <scp>\n                      <i>BRCA2<\/i>\n                      6174delT\n                    <\/scp>"],"prefix":"10.1111","volume":"101","author":[{"given":"Amy","family":"Finch","sequence":"first","affiliation":[{"name":"Women's College Research Institute Women's College Hospital  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"Metcalfe","sequence":"additional","affiliation":[{"name":"Women's College Research Institute Women's College Hospital  Toronto Ontario Canada"},{"name":"Lawrence S. Bloomberg Faculty of Nursing University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8851-3614","authenticated-orcid":false,"given":"Mohammad","family":"Akbari","sequence":"additional","affiliation":[{"name":"Dalla Lana School of Public Health University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eitan","family":"Friedman","sequence":"additional","affiliation":[{"name":"The Meiray Center High Risk Clinic Chaim Sheba Medical Center  Ramat Gan Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Ramat Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Tung","sequence":"additional","affiliation":[{"name":"Beth Israel Deaconess Medical Center  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barry","family":"Rosen","sequence":"additional","affiliation":[{"name":"Beaumont Health  Royal Oak Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Eisen","sequence":"additional","affiliation":[{"name":"Toronto\u2010Sunnybrook Regional Cancer Center  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth","family":"Karlan","sequence":"additional","affiliation":[{"name":"Cedars\u2010Sinai Medical Center  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7427-4651","authenticated-orcid":false,"given":"William","family":"Foulkes","sequence":"additional","affiliation":[{"name":"Program in Cancer Genetics, Department of Oncology and Human Genetics McGill University  Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan L.","family":"Neuhausen","sequence":"additional","affiliation":[{"name":"Department of Population Sciences Beckman Research Institute of City of Hope  Duarte California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leigha","family":"Senter","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Ohio State University Medical Center, Comprehensive Cancer Center  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"McKinnon","sequence":"additional","affiliation":[{"name":"Familial Cancer Program University of Vermont Medical Center  Burlington Vermont USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Elser","sequence":"additional","affiliation":[{"name":"Marvelle Koffler Breast Centre Mount Sinai Hospital  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Sun","sequence":"additional","affiliation":[{"name":"Women's College Research Institute Women's College Hospital  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5798-0626","authenticated-orcid":false,"given":"Steven A.","family":"Narod","sequence":"additional","affiliation":[{"name":"Women's College Research Institute Women's College Hospital  Toronto Ontario Canada"},{"name":"Dalla Lana School of Public Health University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the Hereditary Breast Cancer Clinical Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,1,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10123"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.611"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-188"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-185"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2013.309"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2009.25.0712"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2005936"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1913948"},{"key":"e_1_2_9_10_1","unstructured":"National Center for Biotechnology Information.ClinVar; [VCV000009325.32].https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/VCV000009325.32(accessed September 23 2021)."},{"key":"e_1_2_9_11_1","unstructured":"National Comprehensive Cancer Network. Clinical practice guidelines in oncology genetic\/familial high\u2010risk assessment: breast ovarian and pancreatic; V2.2021."},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm1196-1179"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024133"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-103"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.5985"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/318181"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2017.7112"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14098","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14098","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14098","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T09:18:17Z","timestamp":1693214297000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14098"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,26]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1111\/cge.14098"],"URL":"https:\/\/doi.org\/10.1111\/cge.14098","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14098\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14098\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14098\/v1\/review3","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14098\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14098\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14098\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14098\/v2\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,26]]},"assertion":[{"value":"2021-10-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}