A rare large duplication of MLH1 identified in Lynch syndrome.

ABSTRACT:

Background

The most frequently identified strong cancer predisposition mutations for colorectal cancer (CRC) are those in the mismatch repair (MMR) genes in Lynch syndrome. Laboratory diagnostics include testing tumors for immunohistochemical staining (IHC) of the Lynch syndrome-associated DNA MMR proteins and/or for microsatellite instability (MSI) followed by sequencing or other techniques, such as denaturing high performance liquid chromatography (DHPLC), to identify the mutation.

Methods

In an ongoing project focusing on finding Mendelian cancer syndromes we applied whole-exome/whole-genome sequencing (WES/WGS) to 19 CRC families.

Results

Three families were identified with a pathogenic/likely pathogenic germline variant in a MMR gene that had previously tested ne

SUBMITTER: Kumar A 

PROVIDER: S-EPMC7814444 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature