+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia



High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia



Breast Cancer Research and Treatment 103(2): 225-232



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.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 013395728

Download citation: RISBibTeXText

PMID: 17080309

DOI: 10.1007/s10549-006-9370-1


Related references

A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. American Journal of Human Genetics 60(5): 1041-1049, 1997

Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations. Journal of Medical Genetics 51(2): 98-107, 2014

A high proportion of founder BRCA1 mutations in Polish breast cancer families. International Journal of Cancer 110(5): 683-686, 2004

Fifty percent of Jewish high-risk breast and ovarian cancer families are not explained by the three known BRCA1 or BRCA2 founder mutations while a 07 percent combined BRCA1 founder mutation frequency is reported in a Jewish cohort. American Journal of Human Genetics 59(4 SUPPL ): A28, 1996

Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. Journal of Medical Genetics 39(8): 611-614, 2002

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. Human Mutation 22(4): 301-312, 2003

A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene. Human Genetics 103(2): 154-161, 1998

BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin. Clinical Genetics 77(1): 60-69, 2010

BRCA1 mutations in South African breast and/or ovarian cancer families: evidence of a novel founder mutation in Afrikaner families. International Journal of Cancer 110(5): 677-682, 2004

High prevalence of BRCA1 founder mutations in Greek breast/ovarian families. Clinical Genetics 85(1): 36-42, 2014

Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from North-Eastern Poland. Human Mutation 15(5): 480-481, 2000

Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. American Journal of Human Genetics 66(6): 1963-1968, 2000

Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. American Journal of Human Genetics 60(5): 1059-1067, 1997