Added Value of Family History in Counseling About Risk of BRCA1/2 Mutation in Early-Onset Epithelial Ovarian Cancer. Issue 8 (1st October 2013)

• Record Type: Journal Article
• Authors: Arts-de Jong, Marieke; Manders, Catharina M.; Hoogerbrugge, Nicoline; Ligtenberg, Marjolijn J.L.; Massuger, Leon F.; de Hullu, Joanne A.; Spruijt, Liesbeth
• Is Part Of: International journal of gynecological cancer. Volume 23:Issue 8(2013)
• Page Start: 1406
• Page End: 1410
• Publication Date: 2013-10-01
• Subjects: Epithelial ovarian cancer -- BRCA1/2 mutations -- Early onset -- Family history; Generative organs, Female -- Cancer -- Periodicals; 616.99465
• DOI: 10.1097/IGC.0b013e3182a1cf71
• Languages: English
• ISSNs: 1048-891X

Abstract

Abstract : 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. 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 noncarriers regarding clinical data. 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 < 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. 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.