Portal de Periódicos da CAPES

Haplotype Analysis of <i>BRCA2</i> 8765delAG Mutation Carriers in French Canadian and Yemenite Jewish Hereditary Breast Cancer Families

2001; Karger Publishers; Volume: 52; Issue: 2 Linguagem: Inglês

10.1159/000053364

1423-0062

Andrew Manning, Dvorah Abelovich, Parviz Ghadirian, Julie Anne Lambert, Danielle Frappier, Diane Provencher, André Robidoux, Tamar Peretz, Steven A. Narod, Anne‐Marie Mes‐Masson, William D. Foulkes, Teiling Wang, Kenneth Morgan, Takuya Fujiwara, Patricia N. Tonin,

Genomic variations and chromosomal abnormalities

The <i>BRCA2</i> 8765delAG mutation was previously reported in hereditary breast cancer families of French Canadian and Yemenite Jewish descent. Haplotype analysis, using six microsatellite markers that span <i>BRCA2</i> and two intragenic polymorphisms, was performed on 8765delAG mutation carriers to determine if there was evidence that the mutations were identical by descent. The alleles of the microsatellite markers most closely flanking <i>BRCA2</i> (<i>D13S1697</i> and <i>D13S1701</i>) were found to be identical in state in all the mutation carriers. However, the disease-associated allele of one of the intragenic markers differed between the Yemenite Jews and French Canadian families, indicating that the 8765delAG mutation has independent origins in these two geographically and ethnically distinct populations.