OVARIAN CANCER and US: genetic screening

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Showing posts with label genetic screening. Show all posts
Showing posts with label genetic screening. Show all posts

Friday, March 16, 2012

Access : Mutation analysis of RAD51D in non-BRCA1|[sol]|2 ovarian and breast cancer families : British Journal of Cancer



Access : Mutation analysis of RAD51D in non-BRCA1|[sol]|2 ovarian and breast cancer families : British Journal of Cancer

Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families

Background:

Recent data show that mutations in RAD51D have an aetiological role in ovarian carcinoma, yet mutations do not appear to be associated with an increased risk for breast cancer. We studied ovarian and breast cancer families having at least one woman affected by ovarian carcinoma, to assess the importance of RAD51D mutations in such families.

Methods:

The coding region of the RAD51D gene was analysed in 175 BRCA1/2-negative families with family histories of both ovarian and breast cancer ascertained from two Canadian and two Belgian institutions.

Conclusion:

RAD51D should be included in genetic screening of ovarian cancer families that do not have BRCA1/BRCA2 mutations. We show that mutations are more likely to be found in families with two or more ovarian cancers, or in probands with first-degree relatives with ovarian cancer, and we feel testing should be preferentially offered to affected women from such families.