1.
Clin Genet
; 92(6): 649-653, 2017 Dec.
Article
in English
| MEDLINE
| ID: mdl-28369810
ABSTRACT
It is well known that founder mutations associated with cancer risk have useful implications for molecular diagnostics. We report the presence of a founder mutation in EPCAM involved in the etiology of Lynch syndrome (LS). The mutation extends nearly 8.7 kb (c.858 + 2478_*4507del) and is shared by 8 Polish families. Family members suffered almost exclusively from colorectal cancer; however, pancreatic and gastric cancers were also apparent. Next to mutations c. 2041G>A in MLH1 gene and c.942+3A>T in MSH2, the deletion mutation encompassing EPCAM is one of the most common causative changes responsible for LS in Poland.
Subject(s)
Base Sequence , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , Epithelial Cell Adhesion Molecule/genetics , MutS Homolog 2 Protein/genetics , Pancreatic Neoplasms/genetics , Sequence Deletion , Stomach Neoplasms/genetics , Adult , Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis , Colorectal Neoplasms, Hereditary Nonpolyposis/pathology , Female , Founder Effect , Gene Expression , Humans , Male , Middle Aged , MutL Protein Homolog 1 , Pancreatic Neoplasms/diagnosis , Pancreatic Neoplasms/pathology , Pedigree , Point Mutation , Poland , Stomach Neoplasms/diagnosis , Stomach Neoplasms/pathology
2.
Clin Genet
; 86(2): 190-3, 2014 Aug.
Article
in English
| MEDLINE
| ID: mdl-24032978