Erschienen in:
01.06.2007 | Epidemiology
High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia
verfasst von:
Diana Torres, Muhammad Usman Rashid, Fabian Gil, Angela Umana, Giancarlo Ramelli, Jose Fernando Robledo, Mauricio Tawil, Lilian Torregrosa, Ignacio Briceno, Ute Hamann
Erschienen in:
Breast Cancer Research and Treatment
|
Ausgabe 2/2007
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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.