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

The BRCA2 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 BRCA2 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 BRCA2 (D13S1697 and D13S1701) 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.

[1]  A. Cossu,et al.  Identification of a founder BRCA2 mutation in Sardinia , 2000, British Journal of Cancer.

[2]  A. Mes-Masson,et al.  Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history , 1999, Clinical genetics.

[3]  P. Underhill,et al.  Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. , 1999, Human molecular genetics.

[4]  B. Bonné-Tamir,et al.  Human gene mutations , 1999, Human Genetics.

[5]  A. Mes-Masson,et al.  Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. , 1998, American journal of human genetics.

[6]  H. Gutman,et al.  The 8765delAG mutation in BRCA2 is common among Jews of Yemenite extraction. , 1998, American journal of human genetics.

[7]  P. Cheah,et al.  Human Gene Mutations , 1998, Human Genetics.

[8]  M. King,et al.  Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. , 1998, American journal of human genetics.

[9]  B Brinkmann,et al.  Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. , 1998, American journal of human genetics.

[10]  M. Krawczak,et al.  Meiotic microdeletion breakpoints in the BRCA1 gene are significantly associated with symmetric DNA-sequence elements. , 1997, American journal of human genetics.

[11]  R. Lidereau,et al.  BRCA2 mutations in hereditary breast and ovarian cancer in France. , 1997, American journal of human genetics.

[12]  D. B. Berman,et al.  Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families , 1996, Nature Medicine.

[13]  J. Rommens,et al.  Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13. , 1996, Genomics.

[14]  D. Easton,et al.  High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients. , 1996, Cancer research.

[15]  D. B. Berman,et al.  A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals. , 1996, Cancer research.

[16]  J. Rommens,et al.  The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds , 1996, Nature Genetics.

[17]  Julian Peto,et al.  Identification of the breast cancer susceptibility gene BRCA2 , 1996, Nature.

[18]  C. Larsson,et al.  Mutation analysis of the BRCA2 gene in 49 site–specific breast cancer families , 1996, Nature Genetics.

[19]  D. Bentley,et al.  Identification of the breast cancer susceptibility gene BRCA2 , 1995, Nature.