Pathogenic Variants Identified in Women with Epithelial Ovarian Cancer Diagnosed Before Age 31
ACOG ePoster. Marshall M.
Apr 27, 2018; 212130
Megan Marshall
Megan Marshall
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Introduction: Ten to 18% of ovarian cancer (OC) can be attributed to a hereditary predisposition. The frequency of pathogenic variants (PVs) among women with epithelial ovarian cancer (EOC) diagnosed at an early age has not been well-described. We present the yield of PVs in women with EOC diagnosed ≤30 years (y) who have undergone genetic testing at a commercial laboratory.

Methods: Results for women with OC submitted for multi-gene hereditary cancer panel testing of at least ATM, BRCA1/2, BRIP1, CHEK2, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51C, and RAD51D were reviewed. Yields were compared using two-tailed Fisher exact test.

Results: One hundred and fifty-three women with OC were diagnosed ≤30y, and 65 (42%) had EOC. Family history of OC was reported for 35 women (26.9%). Five PVs, in BRIP1, CHEK2 (3) and PALB2, were identified in the women with EOC for a positive yield of 7.7%, which is similar to the yield in all women with OC diagnosed ≤30y regardless of histopathologic subtype (5.9%, 9/153, P=.77; ATM, BRIP1, CHEK2 (6), PALB2). The yield of PVs in women with OC diagnosed 30y was significantly higher than either yield in the early-onset group (14.7%, 546/3,704, P30y, though the detected yield was still appreciable. No PVs were identified in BRCA1/2 or the Lynch syndrome genes, highlighting the utility of panel testing and including genes beyond BRCA1/2 for women with OC regardless of age and histopathology.
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