Back to Search
Start Over
BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.
- Source :
-
Familial cancer [Fam Cancer] 2016 Oct; Vol. 15 (4), pp. 507-12. - Publication Year :
- 2016
-
Abstract
- Mutations in the BRCA1 and BRCA2 genes significantly contribute to hereditary breast cancer and ovarian cancer, but the phenotypic effect from different mutations is insufficiently recognized. We used a western Danish clinic-based cohort of 299 BRCA families to study the female cancer risk in mutation carriers and their untested first-degree relatives. Founder mutations were characterized and the risk of cancer was assessed in relation to the specific mutations. In BRCA1, the cumulative cancer risk at age 70 was 35 % for breast cancer and 29 % for ovarian cancer. In BRCA2, the cumulative risk was 44 % for breast cancer and 15 % for ovarian cancer. We identified 47 distinct BRCA1 mutations and 48 distinct mutations in BRCA2. Among these, 8 founder mutations [BRCA1 c.81-?_4986+?del, c.3319G>T (p.Glu1107*), c.3874delT and c.5213G>A (p.Gly1738Glu) and BRCA2 c.6373delA, c.7008-1G>A, c.7617+1G>A and c.8474delC] were found to account for 23 % of the BRCA1 mutations and for 32 % of the BRCA2 mutations. The BRCA1 mutation c.3319G>T was, compared to other BRCA1 mutations, associated with a higher risk for ovarian cancer. In conclusion, founder mutations in BRCA1 and BRCA2 contribute to up to one-third of the families in western Denmark and among these the BRCA1 c.3319G>T mutation is potentially linked to an increased risk of ovarian cancer.
Details
- Language :
- English
- ISSN :
- 1573-7292
- Volume :
- 15
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Familial cancer
- Publication Type :
- Academic Journal
- Accession number :
- 26833046
- Full Text :
- https://doi.org/10.1007/s10689-016-9875-7