Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G & gt;T p.(Gly1770Val)

ConclusionsWe provide evidence thatBRCA1 c.5309G>T p.(Gly1770Val), previously described as a Moroccan founder variant, should be treated as a disease-causing variant despite a lack of evolutionary conservation at this amino acid position. Additionally, we stress that bioinformatic information should be used in combination with other data, either direct clinical evidence or some form of clinical calibration, to arrive at a final clinical classification.

Source: Breast Cancer Research and Treatment - October 16, 2018 Category: Cancer & Oncology Source Type: research