Research highlight

Mutations confer increased risk of breast and ovarian cancer

Nature Genetics

April 19, 2010

Mutations in the gene RAD51C lead to an increased risk of breast and ovarian cancer, according to a report published online this week in Nature Genetics. An accompanying study reports that mutations in RAD51C also cause a Fanconi anemia-like disorder. These two studies reinforce the known link between Fanconi anemia and susceptibility to breast and ovarian cancer.

In women, breast cancer is the second most commonly diagnosed cancer, causing approximately half a million deaths each year. Ovarian cancer is less common, with approximately 200,000 new cases each year worldwide, however, it is a much more deadly cancer. Family history is an important risk factor for both breast and ovarian cancer, and BRCA1 and BRCA2 are well-known breast/ovarian cancer susceptibility genes. The mutated forms of these genes lead to an approximately 60% lifetime risk of breast cancer and a 15% to 40% lifetime risk of ovarian cancer.

Alfons Meindl and colleagues analyzed 1,100 German families with gynecological cancers and identified mutations in one copy of RAD51C that confer an increased risk of breast and ovarian cancer. The mutations were found only in families showing breast and ovarian tumors, but not in families with only breast cancer. Although occurrence of mutations in RAD51C is rare, the mutations appear to have a large effect, roughly comparable to effects observed for BRCA1/2 mutations.

Christopher Mathew and colleagues report that a mutation in both copies of RAD51C causes a Fanconi anemia-like disorder in a single family. Two of the three affected individuals in this family died in early infancy due to severe congenital abnormalities and the other affected individual displays extensive congenital abnormalities.

doi: 10.1038/ng.569

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