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Prevalence and penetrance of BRCA1 and BRCA2 germline mutations in Colombian breast cancer patients
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| Veröffentlicht in: | Scientific reports 7(2017) Artikel-Nummer 4713, 9 Seiten |
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| Personen und Körperschaften: | , , |
| Titel: | Prevalence and penetrance of BRCA1 and BRCA2 germline mutations in Colombian breast cancer patients/ D. Torres, J. Lorenzo Bermejo, M.U. Rashid, I. Briceño, F. Gil, A. Beltran, V. Ariza & U. Hamann |
| Format: | E-Book-Kapitel |
| Sprache: | Englisch |
| veröffentlicht: |
05 July 2017
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| Gesamtaufnahme: |
: Scientific reports, 7(2017) Artikel-Nummer 4713, 9 Seiten
, volume:7 |
| Quelle: | Verbunddaten SWB Lizenzfreie Online-Ressourcen |
| Zusammenfassung: | 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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| Beschreibung: |
Published online: 05 July 2017 Gesehen am 18.07.2018 |
| Umfang: | 9 |
| ISSN: |
2045-2322
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| DOI: | 10.1038/s41598-017-05056-y |