Identification and pathogenicity validation of a novel MLH1 frameshift mutation in Lynch syndrome pedigree.
Dayang Zhou, Chang Liu, Wenjing Xu et al.
✦ AI-curated · Sources linked
From the abstract
Lynch syndrome (LS), the most prevalent hereditary colorectal cancer (CRC) syndrome, accounts for approximately 2 %-3 % of all CRC cases and confers a significantly elevated cancer risk among affected family members, necessitating targeted preventive interventions.