caa a22 4500 397574266 CHVBK 20180308164850.0 cr unu---uuuuu 161202e199606 xx s 000 0 eng 10.1093/hmg/5.6.835 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.6.835 Comparison of BRCA1 Polymorphisms, Rare Sequence Variants and/or Missense Mutations in Unaffected and Breast/Ovarian Cancer Populations [Elektronische Daten] [Francine Durocher, Donna Shattuck-Eidens, Melody McClure, Fernand Labrie, Mark H. Skolnick, David E. Goldgar, Jacques 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. © 1996 Oxford University Press Durocher Francine Medical Research Council Group in Molecular Endocrinology, CHUL Research Center and Laval University, Quebec City, G1V 4G2, Canada aut Shattuck-Eidens Donna Myriad Genetics, 390 Wakara Way, Salt Lake City, Utah, USA aut McClure Melody Myriad Genetics, 390 Wakara Way, Salt Lake City, Utah, USA aut Labrie Fernand Medical Research Council Group in Molecular Endocrinology, CHUL Research Center and Laval University, Quebec City, G1V 4G2, Canada aut Skolnick Mark H. Myriad Genetics, 390 Wakara Way, Salt Lake City, Utah, USA aut Goldgar David E. Department of Medical Informatics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA aut Simard Jacques Medical Research Council Group in Molecular Endocrinology, CHUL Research Center and Laval University, Quebec City, G1V 4G2, Canada aut Human Molecular Genetics Oxford University Press 5/6(1996-06), 835-842 0964-6906 5:6<835 1996 5 hmg https://doi.org/10.1093/hmg/5.6.835 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.6.835 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Durocher Francine Medical Research Council Group in Molecular Endocrinology, CHUL Research Center and Laval University, Quebec City, G1V 4G2, Canada aut NATIONALLICENCE 700 1- Shattuck-Eidens Donna Myriad Genetics, 390 Wakara Way, Salt Lake City, Utah, USA aut NATIONALLICENCE 700 1- McClure Melody Myriad Genetics, 390 Wakara Way, Salt Lake City, Utah, USA aut NATIONALLICENCE 700 1- Labrie Fernand Medical Research Council Group in Molecular Endocrinology, CHUL Research Center and Laval University, Quebec City, G1V 4G2, Canada aut NATIONALLICENCE 700 1- Skolnick Mark H. Myriad Genetics, 390 Wakara Way, Salt Lake City, Utah, USA aut NATIONALLICENCE 700 1- Goldgar David E. Department of Medical Informatics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA aut NATIONALLICENCE 700 1- Simard Jacques Medical Research Council Group in Molecular Endocrinology, CHUL Research Center and Laval University, Quebec City, G1V 4G2, Canada aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/6(1996-06), 835-842 0964-6906 5:6<835 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford