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Women with germline mutations in RAD51D more susceptible to ovarian cancer
Loveday C. Nat Genet. 2011;doi:10.1038/ng.893.
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The RR for ovarian cancer was six times higher for women with inactivating RAD51D mutations compared with controls, according to findings from an investigation of the gene's role in cancer susceptibility.
Researchers analyzed lymphocyte DNA stored at 24 genetics centers in the United Kingdom and collected through the Genetics of the Familial Breast Cancer Study. The DNA came from families with a history of breast and/or ovarian cancer (n=911) or breast cancer only (n=737).
For the control group, researchers used lymphocyte DNA from 1,060 samples obtained from the 1958 Birth Cohort Collection, an ongoing follow-up of people born in Great Britain during 1 week in 1958. Biomedical assessment was undertaken from 2002 to 2004.
When researchers detected a RAD51D mutation in a patient, they expanded their search to obtain DNA samples from other relatives, then genotyped all obtainable samples for the family mutation.
Researchers identified inactivating RAD51D mutations in eight patients in the breast and/or ovarian cancer group and just one of the 1,060 controls (P=.01). Mutations were more prevalent in families with more than one case of ovarian cancer. Researchers detected four mutations in 235 families with two or more cases of ovarian cancer (P=.005) and three mutations in the 59 families with three or more cases of ovarian cancer (P=.0005).
In RAD51D mutation carriers, the RR for ovarian cancer risk was 6.30 (95% CI, 2.86-13.85). There was no statistically significant association between the mutation and risk for breast cancer.
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