The Impact of Germline Alterations in Appendiceal Adenocarcinoma.

ABSTRACT:

Purpose

More than 10% of assessed patients with appendiceal adenocarcinoma have a pathogenic (P) or likely pathogenic (LP) germline variant, including genes implicated in heritable gastrointestinal cancer syndromes, such as Lynch syndrome. We defined the clinical and molecular impact of heritable alterations in appendiceal adenocarcinoma to evaluate the need for dedicated appendiceal screening and prevention strategies in patients with LP/P germline variants.

Experimental design

We performed an integrated germline and somatic molecular analysis for patients with confirmed appendiceal adenocarcinoma. Patients underwent paired tumor-normal sequencing for up to 90 hereditary cancer risk genes and 505 genes for somatic mutation profiling. We defined the cooccurrence of LP/P germ

SUBMITTER: Foote MB 

PROVIDER: S-EPMC10642170 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature