Article
A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing.
Breast cancer research and treatment - 1 Jul 2011
Thomassen Mads, Pedersen Inge Søkilde, Vogel Ida, Hansen Thomas V O, Brasch-Andersen Charlotte, Brasen Claus L, Crüger Dorthe, Sunde Lone, Nielsen Finn C, Jensen Uffe B, Bisgaard Marie Luise, Borg Ake, Gerdes Anne-Marie, Kruse Torben A
Abstract excerpt
Inherited mutations in the tumor suppressor genes BRCA1 and BRCA2 predispose carriers to breast and ovarian cancer. The authors have identified a mutation in BRCA2, 7845+1G>A (c.7617+1G>A), not previously regarded as deleterious because of incorrect mapping of the splice junction in the originally published genomic reference sequence. This reference sequence is generally used in many laboratories and it maps the...
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