Rare single-nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome.

ABSTRACT:

Background

Approximately 5% of colorectal cancers (CRCs) are hereditary. Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is the most common form of recognized hereditary CRC. Although Iran, as a developing country, has a high incidence of CRC, the spectrum of variants has yet to be thoroughly investigated.

Aims

This study aimed to investigate pathogenic and non-pathogenic variants in MLH1 and MSH2 genes in Iranian patients with suspected Lynch syndrome (sLS).

Methods and results

In the present study, 25 peripheral blood samples were collected from patients with sLS and high microsatellite instability (MSI-H). After DNA extraction, all samples underwent polymerase chain reaction and Sanger sequencing to identify the variants in the

SUBMITTER: Mirabdolhosseini SM 

PROVIDER: S-EPMC10809271 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature