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The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes.

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 of 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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Gayther SA,Russell P,Harrington P,Antoniou AC,Easton DF,Ponder BA

doi

10.1086/302583

subject

Has Abstract

pub_date

1999-10-01 00:00:00

pages

1021-9

issue

4

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)62604-4

journal_volume

65

pub_type

杂志文章

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