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Wagner, TM; Hirtenlehner, K; Shen, P; Moeslinger, R; Muhr, D; Fleischmann, E; Concin, H; Doeller, W; Haid, A; Lang, AH; Mayer, P; Petru, E; Ropp, E; Langbauer, G; Kubista, E; Scheiner, O; Underhill, P; Mountain, J; Stierer, M; Zielinski, C; Oefner, P.
Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations.
Hum Mol Genet. 1999; 8(3):413-423
Doi: 10.1093%2Fhmg%2F8.3.413
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- Co-authors Med Uni Graz
- Petru Edgar
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- Abstract:
- The aim of this study was to evaluate the prevalence of simple sequence variation in the BRCA2 gene. To this end, 71 breast and breast-ovarian cancer (HBC/HBOC) families along with 95 control individuals from a wide range of ethnicities were analyzed by means of denaturing high-performance liquid chromatography (DHPLC) and direct sequence analysis. In the coding (10 257 bp) and non-coding (2799 bp) sequences of BRCA2, 82 sequence variants were identified. Three different, apparently disease-associated BRCA2 mutations were found in six HBC/HBOC families (8%): two splice site mutations in introns 5 and 21, and one frameshift mutation in exon 11. In the coding region, 53 simple sequence variants were found: 35 missense mutations, one 2 bp deletion (CT) resulting in a stop at codon 3364, one nonsense mutation with a stop at codon 3326, one deletion of a complete codon (AAA) resulting in the loss of leucine, and 15 silent mutations. In the non-coding region, 26 polymorphisms were detected. Of the 79 sequence variants that were not obviously disease-associated, eight were detected only in HBC/HBOC families. The remaining 71 variants were identified in both HBC/HBOC families and control individuals. Sixty three sequence variants (80%) were specific for a continent. Forty two percent (33 out of 79) of the sequence variants were detected exclusively in Africa, though only 13% of the 332 chromosomes screened were of African origin. Our data indicate that, in BRCA2, simple sequence variation is frequent [in the coding region 1 in 194 bp (straight theta = 2.2 x 10(-4)), and in the non-coding region 1 in 108 bp (straight theta = 4.4 x 10(-4)), respectively].
- Find related publications in this database (using NLM MeSH Indexing)
- Africa -
- BRCA2 Protein -
- Base Sequence -
- Breast Neoplasms - genetics
- DNA Mutational Analysis - genetics
- DNA Primers - genetics
- Female - genetics
- Gene Frequency - genetics
- Genes, Tumor Suppressor - genetics
- Humans - genetics
- Male - genetics
- Mutation - genetics
- Neoplasm Proteins - genetics
- Ovarian Neoplasms - genetics
- Pedigree - genetics
- Transcription Factors - genetics
- Variation (Genetics) - genetics