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Titolo:
The contribution of germline BRCA1 and BRCA2 mutations to familial ovariancancer: No evidence for other ovarian cancer-susceptibility genes
Autore:
Gayther, SA; Russell, P; Harrington, P; Antoniou, AC; Easton, DF; Ponder, BAJ;
Indirizzi:
CRC, Strangeways Res Lab, Dept Oncol, Cambridge CB1 8RN, England CRC Cambridge England CB1 8RN ab, Dept Oncol, Cambridge CB1 8RN, England CRC, Strangeways Res Lab, Genet Epidemiol Unit, Cambridge CB1 8RN, EnglandCRC Cambridge England CB1 8RN Epidemiol Unit, Cambridge CB1 8RN, England
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 4, volume: 65, anno: 1999,
pagine: 1021 - 1029
SICI:
0002-9297(199910)65:4<1021:TCOGBA>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
BREAST-CANCER; IDENTIFICATION; HETEROGENEITY; FREQUENCY; HOMOLOG; RISKS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
36
Recensione:
Indirizzi per estratti:
Indirizzo: Gayther, SA CRC, Strangeways Res Lab, Dept Oncol, Worts Causeway, Cambridge CB1 8RN, England CRC Worts Causeway Cambridge England CB1 8RN CB1 8RN, England
Citazione:
S.A. Gayther et al., "The contribution of germline BRCA1 and BRCA2 mutations to familial ovariancancer: No evidence for other ovarian cancer-susceptibility genes", AM J HU GEN, 65(4), 1999, pp. 1021-1029

Abstract

To establish the contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer, we have analyzed both genes in DNA samples obtained from an affected individual in each of 112 families containing at least two cases of epithelial. ovarian cancer. Germline mutations were found in 43% of the families; BRCA1 mutations were approximately four times more common than BRCA2 mutations. The extent of family history of ovarian and breast: cancers was strongly predictive of BRCA1-mutation status. Segregation analysis suggests that a combination Df chance clustering of sporadic cases and insensitivity of mutation detection may account for the remaining families; however, the contribution of other genes cannot be excluded. We discuss the implications for genetic testing and clinical management of familial ovarian cancer arising from the data presented in these studies.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/09/20 alle ore 22:11:03