Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

ABSTRACT:

Background

Lynch syndrome (LS) is a hereditary condition characterized by a high risk of colorectal cancer, endometrial cancer, and other neoplasia associated with germline alterations in DNA mismatch repair genes. The classical genetic diagnostic strategy for LS consists of the Sanger sequencing of genes associated with the suspected syndrome. Next-generation sequencing (NGS) enables the simultaneous sequencing of a large number of hereditary cancer genes. Here, we aimed to study whether other germline pathogenic variants of hereditary cancer genes are present in patients with LS.

Methods

A cohort of 84 probands with a previous genetic diagnosis of LS by Sanger sequencing was reanalyzed using NGS via a commercial panel of 94 hereditary cancer genes by hybrid capture. The Am

SUBMITTER: Ferrer-Avargues R 

PROVIDER: S-EPMC7968885 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature