Prevalence and penetrance of BRCA1 and BRCA2 germline mutations in Colombian breast cancer patients
Pathogenic BRCA1/2 germline mutations confer high risks of breast and ovarian cancer to women of European ancestry. Characterization of BRCA1/2 mutations in other ethnic groups is also medically important. We comprehensively screened 68 Colombian breast/ovarian cancer families for small-range mutati...
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| Main Authors: | , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
05 July 2017
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| In: |
Scientific reports
Year: 2017, Volume: 7 |
| ISSN: | 2045-2322 |
| DOI: | 10.1038/s41598-017-05056-y |
| Online Access: | Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1038/s41598-017-05056-y Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41598-017-05056-y 
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| Author Notes: | D. Torres, J. Lorenzo Bermejo, M.U. Rashid, I. Briceño, F. Gil, A. Beltran, V. Ariza & U. Hamann |
| Summary: | Pathogenic BRCA1/2 germline mutations confer high risks of breast and ovarian cancer to women of European ancestry. Characterization of BRCA1/2 mutations in other ethnic groups is also medically important. We comprehensively screened 68 Colombian breast/ovarian cancer families for small-range mutations, 221 families for large-genomic rearrangements, and 1,022 unselected breast cancer cases for Colombian founder mutations in BRCA1/2. The risk of cancer among relatives of mutation carriers and the mutation penetrance were estimated by survival analysis. Identified BRCA2 mutations included 6310delGA and the recurrent 1991del4 mutations. A novel large BRCA2 deletion was found in 0.9% of the screened families. Among unselected breast cancer cases, 3.3% tested positive for BRCA1/3450del4, 2.2% for BRCA1/A1708E, 1.1% for BRCA2/3034del4, and 0.4% for BRCA2/1991del4. Female relatives of carriers of BRCA1/2 founder mutations showed a 5.90 times higher risk of breast cancer, when the woman herself carried a BRCA1 mutation compared to a non-carrier (95% CI 2.01-17.3). The estimated cumulative risk of breast cancer by age 70 years for BRCA1 mutations carriers was 14% (95% CI 5-38) compared to 3% for the general Colombian population (relative risk of breast cancer 4.05). Together with known founder mutations, reported novel variants may ease a cost-effective BRCA1/2 screening in women with Colombian ancestry. |
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| Item Description: | Published online: 05 July 2017 Gesehen am 18.07.2018 |
| Physical Description: | Online Resource |
| ISSN: | 2045-2322 |
| DOI: | 10.1038/s41598-017-05056-y |