The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations

BMC Medical Genetics
Teresa M RudkinWilliam D Foulkes

Abstract

Analysis of the chromosomal background upon which a mutation occurs can be used to reconstruct the origins of specific disease-causing mutations. The relatively common BRCA1 mutation, 1135insA, has been previously identified as a Norwegian founder mutation. We performed haplotype analysis of individuals from breast and ovarian cancer families from four different ethnic backgrounds who had been identified as carriers of the BRCA1: 1135insA mutation. Four microsatellite markers (D17S855, D17S1322, D17S1323 and D17S1325) located within or near the BRCA1 gene were genotyped in mutation carriers from 6 families of French Canadian, Italian and Dutch descent. Haplotypes were inferred from the genotype data and compared between these families and with the previously reported Norwegian founder haplotype. The 1135insA mutation was found to occur on three distinct haplotype backgrounds. The families from Norway shared a distinct haplotype while the families of French Canadian, Italian, and Dutch descent were found to occur on one of two additional, distinct backgrounds. Our results indicate that while the Norwegian haplotype including 1135insA represents an ancient Norwegian mutation, the same mutation has occurred independently in the ot...Continue Reading

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Citations

Jan 25, 2008·Annals of Human Genetics·F MarroniG Bevilacqua
Jan 30, 2008·Breast Cancer Research and Treatment·Antonio RussoViviana Bazan
Aug 4, 2020·International Journal of Cancer. Journal International Du Cancer·Tarryn ShawJoanne Ngeow
Jun 25, 2017·Cancer Research·Barbara RiveraWilliam D Foulkes

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Methods Mentioned

BETA
PCR
genotyping

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Breast Cancer: BRCA1 & BRCA2

Mutations involving BRCA1, found on chromosome 17, and BRCA2, found on chromosome 13, increase the risk for specific cancers, such as breast cancer. Discover the last research on breast cancer BRCA1 and BRCA2 here.

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