Ontology highlight
ABSTRACT:
SUBMITTER: Garcia FAO
PROVIDER: S-EPMC8857274 | biostudies-literature | 2022 Feb
REPOSITORIES: biostudies-literature
Garcia Felipe Antonio de Oliveira FAO de Andrade Edilene Santos ES de Campos Reis Galvão Henrique H da Silva Sábato Cristina C Campacci Natália N de Paula Andre Escremin AE Evangelista Adriane Feijó AF Santana Iara Viana Vidigal IVV Melendez Matias Eliseo ME Reis Rui Manuel RM Palmero Edenir Inez EI
Scientific reports 20220218 1
Familial colorectal cancer type X (FCCTX) is a heterogeneous colorectal cancer predisposition syndrome that, although displays a cancer pattern similar to Lynch syndrome, is mismatch repair proficient and does not exhibit microsatellite instability. Besides, its genetic etiology remains to be elucidated. In this study we performed germline exome sequencing of 39 cancer-affected patients from 34 families at risk for FCCTX. Variant classification followed the American College of Medical Genetics a ...[more]