Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer.

ABSTRACT:

Importance

Germline sequence variations in APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, and TP53 genes are associated with susceptibility to gastrointestinal cancers. As a rare cancer, the evaluation of appendiceal cancer (AC) predisposition has been limited.

Objective

To assess the prevalence and spectrum of inherited cancer susceptibility gene sequence variations in patients with AC and the utility of germline genetic testing for this population.

Design, setting, and participants

This cohort study included patients with AC who underwent germline genetic testing of 14 cancer susceptibility genes performed by a clinical testing laboratory between March 1, 2012, and December 31, 2016. Data were analyzed from March to August 2022.

SUBMITTER: Holowatyj AN 

PROVIDER: S-EPMC9652767 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature