{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T12:37:53Z","timestamp":1771677473658,"version":"3.50.1"},"reference-count":39,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2007,1,22]],"date-time":"2007-01-22T00:00:00Z","timestamp":1169424000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Statistics in Medicine"],"published-print":{"date-parts":[[2007,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Estimates of penetrance (or risk) of breast cancer among <jats:italic>BRCA<\/jats:italic> mutation carriers in published studies are heterogeneous, prohibiting direct combined estimates. Estimates of prevalence of <jats:italic>BRCA<\/jats:italic> mutations are more homogeneous and could allow combined estimates of prevalence. We propose a combined estimator of penetrance from combined estimates of the prevalence of <jats:italic>BRCA<\/jats:italic> mutations in women with and without breast cancer and from the probability of breast cancer by using Bayes' Theorem. The relative risk of having breast cancer with positive family history and the prevalence of positive family history contribute to the combined estimate of penetrance if family history is present. The combined estimate incorporates variation in estimates from different resources. The method is illustrated by using data from Ashkenazi Jewish women unselected for family history and for those with family history. Risks of breast cancer conferred by <jats:italic>BRCA<\/jats:italic>1 and <jats:italic>BRCA<\/jats:italic>2 mutations are estimated to be 8.39 per cent (6.56, 10.68 per cent) and 2.66 per cent (1.85, 3.82 per cent) by 40 years old, and 47.45 per cent (37.39, 57.72 per cent) and 31.85 per cent (23.72, 41.26 per cent) by 75 years old, respectively. For those with family history, risks of breast cancer conferred by <jats:italic>BRCA<\/jats:italic> mutations appear to be higher. Copyright \u00a9 2007 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/sim.2811","type":"journal-article","created":{"date-parts":[[2007,1,22]],"date-time":"2007-01-22T13:50:55Z","timestamp":1169473855000},"page":"1775-1787","source":"Crossref","is-referenced-by-count":12,"title":["Estimating risk of breast cancer in carriers of <i>BRCA<\/i>1 and <i>BRCA<\/i>2 mutations: a meta\u2010analytic approach"],"prefix":"10.1002","volume":"26","author":[{"given":"Rongwei","family":"Fu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily L.","family":"Harris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Helfand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heidi D.","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,1,22]]},"reference":[{"issue":"9","key":"e_1_2_1_2_2","first-page":"741","article-title":"Population\u2010based estimate of the average age\u2010specific cumulative risk of breast cancer for a defined set of protein\u2010truncating mutations in BRCA1 and BRCA2","volume":"8","author":"Hopper JL","year":"1999","journal-title":"Cancer Epidemiology Biomarkers and Prevention"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1054\/bjoc.2000.1407"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/94.18.1365"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199705153362001"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1088759"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/91.14.1241"},{"issue":"5","key":"e_1_2_1_8_2","first-page":"467","article-title":"The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations","volume":"10","author":"Satagopan JM","year":"2001","journal-title":"Cancer Epidemiology Biomarkers and Prevention"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1086\/301749"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)91578-4"},{"key":"e_1_2_1_11_2","first-page":"678","article-title":"Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. 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