Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations


Ates E. A. , ALAVANDA C., Demir S., KEKLİKKIRAN Ç., Attaallah W., ÖZDOĞAN O. C. , ...More

TURKISH JOURNAL OF GASTROENTEROLOGY, vol.33, no.2, pp.81-87, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 2
  • Publication Date: 2022
  • Doi Number: 10.5152/tjg.2021.201068
  • Journal Name: TURKISH JOURNAL OF GASTROENTEROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.81-87
  • Keywords: Adenomatous polyposis coli, APC, MUTYH, GERMLINE MUTATIONS, MUTYH, FREQUENCY, GENE, PENETRANCE, VARIANTS
  • Marmara University Affiliated: Yes

Abstract

\ Background: Familial adenomatous polyposis (OMIM #175100) and MUTYH-associated polyposis (OMIM #608456) are rare cancer-prone disorders characterized by hundreds of adenomatous polyps in the colon and rectum, which have a high probability of malignant transformation. Attenuated familial adenomatous polyposis is a variant of familial adenomatous polyposis, which is a term used for the condition in which patients have less than 100 colorectal polyps. Germline heterozygous Adenomatous polyposis coli (APC) and biallelic MUTYH (mutY DNA glycosylase) pathogenic variations are responsible for familial adenomatous polyposis and MUTYH-associated polyposis respectively. The aim of this study is to discuss the clinical manifestations of patients having pathogenic APC and MUTYH variations.