The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript

@article{Vega2001TheRB,
  title={The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript},
  author={Ana Vega and Berta Campos and Brigitte Bressac‐de‐Paillerets and P M Bond and Nicolas Janin and F S Douglas and Montserrat Dom{\'e}nech and Manel Baena and Carles Pericay and Carmen Alonso and {\'A}ngel Carracedo and Montserrat Baiget and Orland D{\'i}ez},
  journal={Human Mutation},
  year={2001},
  volume={17}
}
In a BRCA1 screening in familial breast cancer carried out in different centres in Spain, France, and United Kingdom, a missense mutation 330A>G which results in a Arg to Gly change at codon 71 (R71G) was independently identified in 6 families, all of them with Spanish ancestors. This residue coincides with the ‐2 position of the exon 5 donor splice site. We further investigated the effect of this base substitution on the splicing of BRCA1 mRNA. The sequence analysis of the cDNA indicated that… 
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