Added Value of Family History in Counseling About Risk of BRCA1/2 Mutation in Early-Onset Epithelial Ovarian Cancer
| Autor: | Marieke Arts-de Jong, Marjolijn J. L. Ligtenberg, Liesbeth Spruijt, Catharina M. Manders, Leon F.A.G. Massuger, Joanne A. de Hullu, Nicoline Hoogerbrugge |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
medicine.medical_specialty Adolescent endocrine system diseases Genetic counseling DNA Mutational Analysis Genes BRCA2 Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1] Genes BRCA1 Aetiology screening and detection [ONCOL 5] Adenocarcinoma symbols.namesake Young Adult Risk Factors Translational research [ONCOL 3] Medicine Humans Stage (cooking) Family history Age of Onset Fisher's exact test Genetic testing Netherlands Retrospective Studies Gynecology Ovarian Neoplasms medicine.diagnostic_test Hereditary cancer and cancer-related syndromes [ONCOL 1] business.industry Obstetrics and Gynecology medicine.disease Aetiology screening and detection Immune Regulation [ONCOL 5] Serous fluid Human Reproduction [NCEBP 12] Oncology Mutation (genetic algorithm) symbols Female business Ovarian cancer |
| Zdroj: | International Journal of Gynecological Cancer, 23, 8, pp. 1406-10 International Journal of Gynecological Cancer, 23, 1406-10 |
| ISSN: | 1048-891X |
| DOI: | 10.1097/IGC.0b013e3182a1cf71 |
| Popis: | Contains fulltext : 125202.pdf (Publisher’s version ) (Closed access) 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. |
| Databáze: | OpenAIRE |
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