BRCA1 c.4987-3C>G is a pathogenic mutation
Tài liệu tham khảo
Brandão RD, van Roozendaal K, Tserpelis D, García EG, Blok MJ (2011) Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing. Breast Cancer Res Treat 129(3):971–982. doi:10.1007/s10549-011-1599-7
Burn TC, Connors TD, Klinger KW, Landes GM (1995) Increased exon-trapping efficiency through modifications to the pSPL3 splicing vector. Gene 161(2):183–187
Schneider B, Koppius A, Sedlmeier R (2007) Use of an exon-trapping vector for the evaluation of splice-site mutations. Mamm Genome 18(9):670–676. doi:10.1007/s00335-007-9047-z
Whiley P, Pettigrew C, Brewster B, Walker L, Investigators k, Spurdle A, Brown M (2010) Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts. BMC Med Genet 11(1):80. doi:10.1186/1471-2350-11-80
Hansen T, Steffensen A, Jønson L, Andersen M, Ejlertsen B, Nielsen F (2010) The silent mutation nucleotide 744 G→A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping. Breast Cancer Res Treat 119(3):547–550. doi:10.1007/s10549-009-0359-4
