Journal Article

<i>BRCA1</i> and <i>BRCA2</i> as ovarian cancer susceptibility genes

Heidi M. Sowter and Alan Ashworth

in Carcinogenesis

Volume 26, issue 10, pages 1651-1656
Published in print October 2005 | ISSN: 0143-3334
Published online May 2005 | e-ISSN: 1460-2180 | DOI:
BRCA1 and BRCA2 as ovarian cancer susceptibility genes

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  • Clinical Cytogenetics and Molecular Genetics


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Individuals carrying germline mutations in one allele of the BRCA1 or BRCA2 genes are at significantly increased risk of developing cancer. Although the increased risk of breast cancer is often highlighted, cancer at several other sites is also considerably more common in these individuals. Here, we discuss existing knowledge of the role of BRCA1 and BRCA2 mutation in pre-disposition to ovarian cancer. The risk of an individual with a mutation developing cancer of the ovary appears to be influenced by the position of the mutation within the BRCA gene, the presence of allelic variants of modifying genes and the hormonal exposure of the carrier. Once cancer has developed, the pathology and clinical behaviour of BRCA-associated tumours is distinct from sporadic cases. Comparison of the pathogenesis of breast and ovarian cancers caused by BRCA mutation provides insight into the function of BRCA proteins as tumour suppressors in different cellular environments.

Keywords: AR, androgen receptor; DSBs, double-strand DNA breaks; HR, homologous recombination; OSE, ovarian surface epithelium

Journal Article.  4748 words.  Illustrated.

Subjects: Clinical Cytogenetics and Molecular Genetics

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