ICARE Newsletter Winter 2018

The Role of “Non-Truncating” Mutations in RAD51D on Ovarian Cancer Risk

As testing has broadened to include newer inherited cancer genes, studies have suggested that mutations which shorten the protein (“truncating mutations”) in the RAD51D gene are associated with ovarian cancer.  However, a recent study examined ovarian cancer risks for a “non-truncating” change (a single base pair within the gene is changed which is called a missense mutation) in the RAD51D gene. The study was focused on a French-Canadian population in which a specific missense change (c.620C>T) is particularly common.  Findings showed that this change substantially raised the risk for high-grade serous ovarian cancer, which was seen in 3.8% of ovarian cancer patients and 0.2% of controls.  Furthermore, laboratory studies showed that this gene change may confer sensitivity to PARP inhibitors.  This is the first study to confirm a missense mutation in RAD51D and suggests that PARP-inhibitor therapies may be of use among this group of ovarian cancer patients.

Rivera et al. Cancer Res. 2017 Aug 15;77(16):4517-4529. PMID: 28646019.

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