A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG

DEMİRTAŞ C. Ö., ATA P., Cetin A., Turkyilmaz A., Duman D. G.

TURKISH JOURNAL OF GASTROENTEROLOGY, vol.31, no.7, pp.508-514, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31 Issue: 7
  • Publication Date: 2020
  • Doi Number: 10.5152/tjg.2020.19830
  • Journal Name: TURKISH JOURNAL OF GASTROENTEROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.508-514
  • Karadeniz Technical University Affiliated: No

Abstract

Background/Aims: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized by tumors arising from endocrine glands with no specific genotype-phenotype correlation. Here, we report the largest Turkish kindred with MEN1 syndrome which inherited a scarce MEN1 mutation gene.