CONFIRMATION OF DAMAGING EFFECT OF MSH2 c.2634+1G>C MUTATION ON SPLICING, ITS CLASSIFICATION AND IMPLICATIONS FOR COUNSELING

DiscussionMSH2 c.2634+1G>C mutation was not reported previously as LS associated. We confirmed its damaging effect on splicing. in silico tools predict consequent loss of protein domains implicating disrupted protein function. Our results suggest that this mutation should be classified as Pathogenic, and indicate inclusion of bladder cancer in LS cancer spectrum.
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research