Human Molecular Genetics, Vol 8, 413-423, Copyright © 1999 by Oxford University Press
TM Wagner, K Hirtenlehner, P Shen, R Moeslinger, D Muhr, E Fleischmann, H Concin, W Doeller, A Haid, AH Lang, P Mayer, E Petru, E Ropp, G Langbauer, E Kubista, O Scheiner, P Underhill, J Mountain, M Stierer, C Zielinski and P Oefner
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].
ARTICLES
Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations [published erratum appears in Hum Mol Genet 1999 Apr;8(4):717-9]
Division of Senology, Ludwig Boltzmann Institute for Clinical Experimental Oncology, University of Vienna, 1090 Vienna, Austria.
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