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., ...Daha Fazla

TURKISH JOURNAL OF GASTROENTEROLOGY, cilt.33, sa.2, ss.81-87, 2022 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 2
  • Basım Tarihi: 2022
  • Doi Numarası: 10.5152/tjg.2021.201068
  • Dergi Adı: TURKISH JOURNAL OF GASTROENTEROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.81-87
  • Anahtar Kelimeler: Adenomatous polyposis coli, APC, MUTYH, GERMLINE MUTATIONS, MUTYH, FREQUENCY, GENE, PENETRANCE, VARIANTS
  • Marmara Üniversitesi Adresli: Evet

Özet

\ 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.