Whole-genome sequencing identified novel mutations in a Chinese family with lynch syndrome.

ABSTRACT:

Background

Lynch syndrome (LS) is caused by a germline mutation in one of the mismatch repair genes (MLH1, MSH2, MSH6, and PMS2) or in the EPCAM gene. The definition of Lynch syndrome is based on clinical, pathological, and genetic findings. Therefore, the identification of susceptibility genes is essential for accurate risk assessment and tailored screening programs in LS monitoring.

Patients and methods

In this study, LS was diagnosed clinically in a Chinese family using Amsterdam II criteria. To further explore the molecular characteristics of this LS family, we performed whole genome sequencing (WGS) to 16 members in this family and summarized the unique mutational profiles within this family. We also used Sanger sequencing technology and immunohistochemistry (IHC) to ve

SUBMITTER: He W 

PROVIDER: S-EPMC9978139 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature