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Mutations in Women with Ovarian Carcinoma

New suspected hereditary OC genes identified

2 new suspected hereditary ovarian carcinoma (OC) genes, BARD1 and PALB2, were implicated in a study of 1,915 patients with OC, 18% of which carried pathogenic germline mutations in genes associated with OC risk. The study determined:

PALB2 and BARD1 are suspected OC genes and together with established OC genes bring the total number of genes suspected to cause hereditary OC to 11.

• 15% of patients had mutations in BRCA1 (n=182), or BRCA2 (n=98), and 8 (0.4%) had mutations in DNA mismatch repair genes.

• Mutations in BRIP1 (n=26), RAD51C (n=11), RAD51D (n=11), PALB2 (n=12), and BARD1 (n=4) were significantly more common in patients with OC.

• Race, histologic subtype, and disease site were not predictive of mutation frequency.

Citation: Norquist BM, Harrell MI, Brady MF, et al. Inherited mutations in women with ovarian carcinoma. [Published online ahead of print December 30, 2015]. JAMA Oncol. doi:10.1001/jamaoncol.2015.5495.