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

Fulltext:
125202.pdf
Embargo:
until further notice
Size:
258.1Kb
Format:
PDF
Description:
publisher's version
Publication year
2013Source
International Journal of Gynecological Cancer, 23, 8, (2013), pp. 1406-1410ISSN
Publication type
Article / Letter to editor

Display more detailsDisplay less details
Organization
Gynaecology
Human Genetics
Medical Oncology
Pathology
Journal title
International Journal of Gynecological Cancer
Volume
vol. 23
Issue
iss. 8
Page start
p. 1406
Page end
p. 1410
Subject
NCEBP 12: Human Reproduction; ONCOL 1: Hereditary cancer and cancer-related syndromes; ONCOL 1: Hereditary cancer and cancer-related syndromes NCMLS 6: Genetics and epigenetic pathways of disease; ONCOL 3: Translational research; ONCOL 5: Aetiology, screening and detection; ONCOL 5: Aetiology, screening and detection NCMLS 2: Immune Regulation; NCEBP 12: Human Reproduction; ONCOL 3: Translational researchAbstract
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.
This item appears in the following Collection(s)
- Academic publications [202801]
- Electronic publications [100870]
- Faculty of Medical Sciences [80020]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.