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Titolo:
Risk models for familial ovarian and breast cancer
Autore:
Antoniou, AC; Gayther, SA; Stratton, JF; Ponder, BAJ; Easton, DF;
Indirizzi:
Univ Cambridge, Inst Publ Hlth, Strangeways Res Lab, CRC,Genet Epidemiol Unit, Cambridge CB1 8RN, England Univ Cambridge Cambridge England CB1 8RN nit, Cambridge CB1 8RN, England Univ Cambridge, CRC, Human Canc Genet Res Grp, Cambridge, England Univ Cambridge Cambridge England Canc Genet Res Grp, Cambridge, England
Titolo Testata:
GENETIC EPIDEMIOLOGY
fascicolo: 2, volume: 18, anno: 2000,
pagine: 173 - 190
SICI:
0741-0395(200002)18:2<173:RMFFOA>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
GENETIC-HETEROGENEITY; CHROMOSOME 13Q12-13; GERMLINE MUTATIONS; BRCA1 MUTATIONS; CARRIERS; FREQUENCY; LINKAGE; HISTORY;
Keywords:
segregation analysis; high-risk families; population-based studies; BRCA1; BRCA2;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Antoniou, AC Univ Cambridge, Inst Publ Hlth, Strangeways Res Lab, CRC,Genet Epidemiol Unit, Worts Causeway, Cambridge CB1 8RN, England Univ CambridgeWorts Causeway Cambridge England CB1 8RN land
Citazione:
A.C. Antoniou et al., "Risk models for familial ovarian and breast cancer", GENET EPID, 18(2), 2000, pp. 173-190

Abstract

We investigated risk models for the inherited susceptibility of breast andovarian cancer, using data from both high-risk families and a population based series of ovarian cancer. The first data set consisted of 112 familiescontaining two or more relatives with epithelial ovarian cancer. BRCA1 andBRCA2 germline mutations were detected in 50% of these families. The second study involved 374 ovarian cancer cases, unselected for family history, who had DNA samples analyzed for BRCA1 mutations. Twelve women were found tobe carriers. We constructed genetic models for ovarian and breast cancer using the computer program MENDEL. In the first study, we modeled the effects of BRCA1 and BRCA2 simultaneously and allowed for a third gene predisposing to ovarian cancer. None of the models fitted gave significant evidence for a third gene. Population frequencies of BRCA1 and BRCA2 mutations were estimated to be 0.00128 and 0.00172, respectively. Our results suggest that BRCA1 and BRCA2 may be sufficient to explain the majority of familial ovarian cancer and that families without mutations can be explained by sensitivity of mutation testing and chance clusters of sporadic cases. Using data onthe families of the 12 mutation carriers in the second study, we estimatedage-specific ovarian and breast cancer risks for BRCA1 mutation carriers. Under the best-fitting model, the cumulative ovarian cancer risk was 66% byage 70, and the corresponding breast cancer risk was 45%. The high penetrance estimate for ovarian cancer, compared with other studies, suggests thatmodifying genetic or environmental factors may be important determinants of risk. Genet. Epidemiol. 18:173-190, 2000. (C) 2000 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/09/20 alle ore 17:13:09