
Identification of Germline Mutations in Genes Involved in Classic FAP in Patients from Northern Brazil
Author(s) -
Diego Di Felipe Ávila Alcântara,
SERGIO FIGUEIREDO LIMA JÚNIOR,
Paulo Pimentel Assumpção,
LETICIA MARTINS LAMARÃO,
CARLA DE CASTRO SANT’ANNA,
Caroline Aquino Moreira-Nunes,
ROMMEL RODRIGUEZ BURBANO
Publication year - 2022
Publication title -
cancer diagnosis and prognosis
Language(s) - English
Resource type - Journals
ISSN - 2732-7787
DOI - 10.21873/cdp.10123
Subject(s) - familial adenomatous polyposis , mutyh , genetics , biology , germline mutation , germline , gene , allele , lynch syndrome , copy number variation , mutation , cancer , colorectal cancer , dna mismatch repair , genome , dna repair
Colorectal cancer is a common cancer worldwide, with 5-10% of cases being hereditary. Familial adenomatous polyposis syndrome (FAP) is caused by germline mutations in the APC gene or rarely in the MUTYH gene.