Human Molecular Genetics, Vol 5, 835-842, Copyright © 1996 by Oxford University Press
F Durocher, D Shattuck-Eidens, M McClure, F Labrie, MH Skolnick, DE Goldgar and J Simard
Inherited mutations in the BRCA1 gene are known to confer a predisposition
to breast and ovarian cancer. We have first characterized 19 sequence
variants in the BRCA1 gene during mutation screening by direct sequencing
using DNA samples from breast/ovarian cancer patients or obligate carriers.
The frequencies of these sequence variants were then compared with those
found in control populations of women. Among the 10 sequence variants
showing an estimated frequency of the less common allele above 0.05,
Q/R356, L/P871, E/G1038, K/R1183 and S/G1613 result in a change of amino
acids, 2201C/T, 2430T/C and 4427C/T are silent mutations and the two
others, 4209-141C/A and 5272 + 66A/G, are intronic polymorphisms. These
frequent polymorphisms, with the exception of Q/R356, were in complete or
significant pairwise linkage disequilibrium as evaluated in our control
populations. With one exception (L/P871), none of these variants had
statistically significant (P < 0.05) differences in allele frequency
between breast/ovarian cancer patients or obligate carriers and our control
populations. Four rare sequence variants designated 710C-->T, D693N,
R841W and S1040N were found in both unaffected and breast/ovarian cancer
populations, while the missense mutations M1008I, E1219D, R1347G, T1561I
and M1628V were detected only once in our patient population. When a
functional test is available, it will be important to determine the
consequence on the BRCA1 activity of these rare sequence variants and
missense mutations.
ARTICLES
Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations
Medical Research Council Group in Molecular Endocrinology, CHUL Research Center, Quebec City, Canada.
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