{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:54:08Z","timestamp":1761101648095,"version":"3.30.2"},"reference-count":40,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,3,17]],"date-time":"2003-03-17T00:00:00Z","timestamp":1047859200000},"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":[[2003,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Various statistical methods have been proposed to evaluate associations between measured genetic variants and disease, including some using family designs. For breast cancer and rare variants, we applied a modified segregation analysis method that uses the population cancer incidence and population\u2010based case families in which a mutation is known to be segregating. Here we extend the method to a common polymorphism, and use a regressive logistic approach to model familial aggregation by conditioning each individual on their mother's breast cancer history. We considered three models: 1) class A regressive logistic model; 2) age\u2010of\u2010onset regressive logistic model; and 3) proportional hazards familial model. Maximum likelihood estimates were calculated using the software MENDEL. We applied these methods to data from the Australian Breast Cancer Family Study on the CYP17 5\u2032UTR T\u2192C MspA1 polymorphism measured for 1,447 case probands, 787 controls, and 213 relatives of case probands found to have the CC genotype. Breast cancer data for first\u2010 and second\u2010degree relatives of case probands were used. The three methods gave consistent estimates. The best\u2010fitting model involved a recessive inheritance, with homozygotes being at an increased risk of 47% (95% CI, 28\u201368%). The cumulative risk of the disease up to age 70 years was estimated to be 10% or 22% for a CYP17 homozygote whose mother was unaffected or affected, respectively. This analytical approach is well\u2010suited to the data that arise from population\u2010based case\u2010control\u2010family studies, in which cases, controls and relatives are studied, and genotype is measured for some but not all subjects.<jats:italic>Genet Epidemiol<\/jats:italic>24:161\u2013172, 2003. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gepi.10222","type":"journal-article","created":{"date-parts":[[2003,3,19]],"date-time":"2003-03-19T11:59:29Z","timestamp":1048075169000},"page":"161-172","source":"Crossref","is-referenced-by-count":16,"title":["Regressive logistic and proportional hazards disease models for within\u2010family analyses of measured genotypes, with application to a CYP17 polymorphism and breast cancer"],"prefix":"10.1002","volume":"24","author":[{"given":"Jisheng S.","family":"Cui","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda B.","family":"Spurdle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa C.","family":"Southey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gillian S.","family":"Dite","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deon J.","family":"Venter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret R.E.","family":"McCredie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graham G.","family":"Giles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgia","family":"Chenevix\u2010Trench","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John L.","family":"Hopper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,3,17]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1109\/TAC.1974.1100705"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.1014"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0215(19990820)84:4<350::AID-IJC3>3.0.CO;2-L"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.1370050303"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.2307\/2531211"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1008907901087"},{"key":"e_1_2_1_8_1","first-page":"369","volume-title":"Biostatistical genetics and genetic epidemiology","author":"Chakraborty R","year":"2002"},{"key":"e_1_2_1_9_1","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1111\/j.2517-6161.1972.tb00899.x","article-title":"Regression models and life\u2010tables (with discussion)","volume":"34","author":"Cox DR","year":"1972","journal-title":"J R Stat Soc Ser B"},{"key":"e_1_2_1_10_1","first-page":"17","article-title":"Hardy\u2010Weinberg equilibrium test in case\u2010control studies","volume":"57","author":"Cui J","year":"2000","journal-title":"Stata Tech Bull"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/318187"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/320114"},{"key":"e_1_2_1_13_1","first-page":"742","volume-title":"Biostatistical genetics and genetic epidemiology","author":"Dawson DV","year":"2002"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/95.6.448"},{"key":"e_1_2_1_15_1","first-page":"843","article-title":"A systematic review of genetic polymorphisms and breast cancer risk","volume":"8","author":"Dunning AM","year":"1999","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"e_1_2_1_16_1","first-page":"678","article-title":"Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. 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