Article
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript.
Human mutation - 1 Jun 2001
Vega A, Campos B, Bressac-De-Paillerets B, Bond P M, Janin N, Douglas F S, Domènech M, Baena M, Pericay C, Alonso C, Carracedo A, Baiget M, Diez O
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.