A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing.
Thomassen M, Pedersen IS, Vogel I, Hansen TV, Brasch-Andersen C, Brasen CL, Crüger D, Sunde L, Nielsen FC, Jensen UB, Bisgaard ML, Borg A, Gerdes AM, Kruse TA.
Thomassen M, et al. Among authors: gerdes am.
Breast Cancer Res Treat. 2011 Jul;128(1):179-85. doi: 10.1007/s10549-010-1272-6. Epub 2010 Dec 24.
Breast Cancer Res Treat. 2011.
PMID: 21184276