High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia
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Fecha
2007-06Autor(es)
Torres López, Diana MaríaRashid, Muhammad Usman
Gil Laverde, Fabian Armando
Umaña Muñoz, Ángela
Ramelli Prati, Giancarlo
Robledo Abad, José Fernando
Tawil Moreno, Mauricio
Torregrosa Almonacid, Lilian
Briceño Balcazar, Ignacio
Hamann, Ute
Autor(es) Corporativo(s)
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana
Tipo
Artículo de revista
ISSN
0167-6806 / 1573-7217 (Electrónico)
Páginas
225-232
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Abstract
In South America, a high proportion of the population is of Hispanic origin with an important representation in Colombia. Since nothing is known about the contribution of BRCA1 and BRCA2 germline mutations to hereditary breast/ovarian cancer in the Hispanic population from Colombia, we conducted the first study of 53 breast/ovarian cancer families from this country. Comprehensive BRCA mutation screening was performed using a range of techniques, including DHPLC, SSCP, and PTT, followed by DNA sequencing analysis. Thirteen deleterious germline mutations (24.5%) were identified in 53 families, comprising eight in BRCA1 and five in BRCA2. The two recurrent BRCA1 mutations, 3450 delCAAG and A1708E, accounted for 100% of all BRCA1 mutations identified in this cohort and the recurrent 3034 delACAA BRCA2 mutation for 40% of all BRCA2 mutations. Haplotype analyses suggested that each of these mutations has arisen from a common ancestor. The prevalence of BRCA1 or BRCA2 mutations was 50% in multiple case breast cancer families, and was 33% for the breast-ovarian cancer families. Our findings show that BRCA mutations account for a substantial proportion of hereditary breast/ovarian cancer in Colombia. The spectrum of mutations differed completely to that previously reported in Hispanic families of predominantly Mexican origin from Southern California [1] suggesting that specific genetic risk assessment strategies for the different Hispanic populations in South America and in the United States need to be developed.
Cobertura espacial
ColombiaEnlace al recurso
https://link-springer-com.ezproxy.javeriana.edu.co/article/10.1007/s10549-006-9370-1Fuente
Breast Cancer Research and Treatment; Vol. 103 Núm. 2 (2007)
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