{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,15]],"date-time":"2024-07-15T19:14:34Z","timestamp":1721070874766},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2001,8,3]],"date-time":"2001-08-03T00:00:00Z","timestamp":996796800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Epidemiology"],"published-print":{"date-parts":[[2001,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>When a rare inherited mutation in a disease gene, such as <jats:italic>BRCA1<\/jats:italic>, is found through extensive study of high\u2010risk families, it is critical to estimate not only age\u2010specific penetrance of the disease associated with the mutation, but also the residual effect of family history once the mutation is taken into account. The kin\u2010cohort design, a cross\u2010sectional survey of a suitable population that collects DNA and family history data, provides an efficient alternative to cohort or case\u2010control designs for estimating age\u2010specific penetrance in a population not selected because of high familial risk. In this report, we develop a method for analyzing kin\u2010cohort data that simultaneously estimate the age\u2010specific cumulative risk of the disease among the carriers and non\u2010carriers of the mutations and the gene\u2010adjusted residual familial aggregation or correlation of the disease. We employ a semiparametric modeling approach, where the marginal cumulative risks corresponding to the carriers and non\u2010carriers are treated non\u2010parametrically and the residual familial aggregation is described parametrically by a class of bivariate failure time models known as copula models. A simple and robust two\u2010stage method is developed for estimation. We apply the method to data from the Washington Ashkenazi Study [Struewing et al., 1997, N Engl J Med 336:1401\u20131408] to study the residual effect of family history on the risk of breast cancer among non\u2010carriers and carriers of specific <jats:italic>BRCA1<\/jats:italic>\/<jats:italic>BRCA2<\/jats:italic> germline mutations. We find that positive history of a single first\u2010degree relative significantly increases risk of the non\u2010carriers (RR = 2.0, 95% CI = 1.6\u20132.6) but has little or no effect on the carriers. Genet. Epidemiol. 21:123\u2013138, 2001. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gepi.1022","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T20:44:49Z","timestamp":1030308289000},"page":"123-138","source":"Crossref","is-referenced-by-count":17,"title":["Association and aggregation analysis using kin\u2010cohort designs with applications to genotype and family history data from the Washington Ashkenazi Study"],"prefix":"10.1002","volume":"21","author":[{"given":"Nilanjan","family":"Chatterjee","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Shih","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Hartge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lawrence","family":"Brody","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret","family":"Tucker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sholom","family":"Wacholder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,8,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1008301314812"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0006-341X.2001.00245.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.aje.a115616"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/90.23.1824"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/biomet\/65.1.141"},{"key":"e_1_2_1_7_1","first-page":"678","article-title":"Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. 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