Article
Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).
Breast cancer research and treatment - 1 Nov 2018
Tudini Emma, Moghadasi Setareh, Parsons Michael T, van der Kolk Lizet, van den Ouweland Ans M W, Niederacher Dieter, Feliubadaló Lídia, Wappenschmidt Barbara, Spurdle Amanda B, Lazaro Conxi
Abstract excerpt
PURPOSE: Classification of rare BRCA1 missense variants presents a major challenge for the counseling and treatment of patients. Variant classification can be complicated by conflicting lines of evidence. BRCA1 c.5309G>T p.(Gly1770Val) has been shown to abrogate BRCA1 protein homologous DNA repair; however, multiple sequence alignment demonstrates a lack of sequence conservation at this position, suggesting that...
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