Added Value of Family History in Counseling About Risk of BRCA1/2 Mutation in Early-Onset Epithelial Ovarian Cancer

作者：Arts de Jong Marieke^*; Manders Catharina M; Hoogerbrugge Nicoline; Ligtenberg Marjolijn J L; Massuger Leon F; de Hullu Joanne A; Spruijt Lie**eth

来源：International Journal of Gynecological Cancer, 2013, 23(8): 1406-1410.

DOI：10.1097/IGC.0b013e3182a1cf71

• Epithelial ovarian cancer
• BRCA1/2 mutations
• Early onset
• Family history

Objectives: Epithelial ovarian cancer in women 40 years or younger is rare; diagnosis at this age justifies referral for genetic testing. We evaluated clinical data, family history, and risk of identifying BRCA1/2 mutations in women with early-onset epithelial ovarian cancer. %26lt;br%26gt;Materials/Methods: Women 40 years or younger with epithelial ovarian cancer tested for BRCA1/2 mutation at our department of human genetics between 1996 and 2012 were included. The rate of BRCA1/2 mutation was obtained; carriers were compared to non-carriers regarding clinical data. %26lt;br%26gt;Results: Ten (19%) of 52 women had a BRCA1/2 mutation. This mutation was detected in 67% of women with and in 9% of the women without first-degree relatives with breast and/or ovarian cancer (P %26lt; 0.001; Fisher exact test). The median age at diagnosis was lower in the noncarriers compared to the carriers (30 vs 38 years; P = 0.014). Among the BRCA1/2 mutation carriers, 60% had serous tumors, 80% had moderately to poorly differentiated tumors, and 70% had International Federation of Gynecology and Obstetrics stage III/IV compared to 55%, 43%, and 45%, respectively, in the noncarriers. %26lt;br%26gt;Conclusions: The risk of finding a BRCA1/2 mutation in women 40 years or younger is comparable to women of all ages with epithelial ovarian cancer. Prior probability of finding a BRCA1/2 mutation in these young women is largely determined by their family history, which can help caregivers in informing ahead of genetic counseling and testing.

• 出版日期2013-10