BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.
(2016) In Familial Cancer 15(4). p.507-512- 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... (More)
- 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. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/8829983
- author
- Nielsen, Henriette Roed ; Nilbert, Mef LU ; Petersen, Janne ; Ladelund, Steen ; Thomassen, Mads ; Pedersen, Inge Søkilde ; Hansen, Thomas V O ; Skytte, Anne-Bine ; Borg, Åke LU and Therkildsen, Christina
- organization
- publishing date
- 2016
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Familial Cancer
- volume
- 15
- issue
- 4
- pages
- 507 - 512
- publisher
- Springer
- external identifiers
-
- pmid:26833046
- scopus:84985881469
- wos:000382681500002
- pmid:26833046
- ISSN
- 1389-9600
- DOI
- 10.1007/s10689-016-9875-7
- language
- English
- LU publication?
- yes
- id
- 417d6689-3e18-4e34-a2e0-a73d56f7d92e (old id 8829983)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/26833046?dopt=Abstract
- date added to LUP
- 2016-04-04 08:34:43
- date last changed
- 2022-04-23 17:32:30
@article{417d6689-3e18-4e34-a2e0-a73d56f7d92e,
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.}},
author = {{Nielsen, Henriette Roed and Nilbert, Mef and Petersen, Janne and Ladelund, Steen and Thomassen, Mads and Pedersen, Inge Søkilde and Hansen, Thomas V O and Skytte, Anne-Bine and Borg, Åke and Therkildsen, Christina}},
issn = {{1389-9600}},
language = {{eng}},
number = {{4}},
pages = {{507--512}},
publisher = {{Springer}},
series = {{Familial Cancer}},
title = {{BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.}},
url = {{http://dx.doi.org/10.1007/s10689-016-9875-7}},
doi = {{10.1007/s10689-016-9875-7}},
volume = {{15}},
year = {{2016}},
}