BRCA1 and BRCA2 Mutations in African Americans
Final rept. 14 Sep 1998-13 Mar 2002
HOWARD UNIV WASHINGTON DC
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The entire coding regions and flanking introns of BRCA2 have been screened for germline mutations in 74 high- risk African American breast cancer patients. Eight protein truncating, pathogenic mutations have been encountered in female and male patients. Four l99ldelATAA, l993delAA, 200ldelTTAT, 8643delAT of the pathogenic mutations observed in African Americans have not been previously described and may be unique to this group. Six novel rare variations were observed in patients. Of eleven polymorphisms identified in patients, four may be unique to African Americans. The difference in heterozygosity between patients and African American controls for the intron 10 variation is statistically significant. Neither the BRCA2 pathogenic mutations, rare variations, nor two of the polymorphisms have been detected in 163 disease-free control subjects. Since many different mutationsvariations are observed in African Americans, BRCA2 genetic testing in high- risk African American families must include the entire coding and flanking non-coding regions of the gene. This study supports the importance of early-onset breast cancer 40, male breast cancer, multiple cases of breast cancer with at least one before age 50, ovarian cancer, and prostate cancer in a family as indicators for BRCA genetic testing in African Americans.
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