Research Information System
International Hereditary Cancers Congress, Antalya, Turkey, 6 - 08 February 2025, pp.112, (Summary Text)
Our aims to investigate the relation between the monoallelic MUTYH(MutY human homolog) gene variants and extracolonic malignancies such as breast, hepatocellular, gastric, and pancreatic cancers, which have not yet been clearly linked to the MUTYH gene. This study involved 1990 probands with diverse clinical symptoms, who underwent next-generation sequence analysis including clinical exome sequencing, whole-exome sequencing, and inherited cancer panel testing. A total of 1618 individuals older than 18 years were included, with 27 individuals carrying MUTYH pathogenic/likely pathogenic variants integrated into the current study. We identified 27 individuals with 10 different monoallelic pathogenic/likely pathogenic variants from 24 different families. 1 novel variant (c.1143_1144dupGG p.E382fs*43) was detected in a patient with cerebellopontin angle tumor. Different monoallelic variants were detected in 3 patients with breast cancer (c.849+3A>C; c.1353_1355delGGA,p.E452del; c.736C>T, p.R246W) with onsets at ages 63, 49, and 24 years, respectively. Additionally, two variants emerged as compound heterozygous (c.649C>T p.R217C; c.849+3A>C) in a male patient diagnosed with colorectal cancer (CRC) without polyposis at the age of 43 years old. We found a novel and interesting variant that could be related to breast and thyroid cancers; and potentially two founder mutations linked to a familial cancer history.