Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome.

ABSTRACT:

Background

Lynch-like syndrome (LLS) represents around 50% of the patients fulfilling the Amsterdam Criteria II/revised Bethesda Guidelines, characterized by a strong family history of Lynch Syndrome (LS) associated cancer, where a causative variant was not identified during genetic testing for LS.

Methods

Using data extracted from a larger gene panel, we have analyzed next-generation sequencing data from 22 mismatch repair (MMR) genes (MSH3, PMS1, MLH3, EXO1, POLD1, POLD3 RFC1, RFC2, RFC3, RFC4, RFC5, PCNA, LIG1, RPA1, RPA2, RPA3, POLD2, POLD4, MLH1, MSH2, MSH6, and PMS2) in 274 LLS patients. Detected variants were annotated and filtered using ANNOVAR and FILTUS software.

Results

Thirteen variants were revealed in MLH1, MSH2, and MSH6, all genes previously linked to

SUBMITTER: Xavier A 

PROVIDER: S-EPMC6687620 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature