Preimplantation genetic testing for monogenic disorders to prevent MSH6 germline pathogenic variant related colorectal cancer.

ABSTRACT:

Background

Colorectal cancer (CRC) is the third most deadly cancer in the world, accounting for approximately 10% of all cancer diagnoses and cancer-related deaths worldwide each year. In addition to recognized risk factors such as obesity, physical inactivity, and smoking, genetic predispositions significantly contribute to the risk of CRC.

Methods

Whole -exome sequencing (WES) was performed on a proband from a Chinese family diagnosed with CRC to identify potential variants. A germline pathogenic variant of the MSH6 gene was confirmed by Sanger sequencing. Immunohistochemistry (IHC) was used to verify the protein expression of MSH6 in the tumor sections. Prior to chemotherapy, the proband's semen was cryopreserved in the Department of Reproductive Medicine. Preimplantation

SUBMITTER: Wang W 

PROVIDER: S-EPMC12211955 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature