Open AccessMutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome
Author(s) -
Zhi Zhang,
Fu-Xiao Duan,
Guo-Li Gu,
Pengfei Yu
Publication year - 2020
Publication title -
world journal of gastroenterology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.427
H-Index - 155
eISSN - 2219-2840
pISSN - 1007-9327
DOI - 10.3748/wjg.v26.i16.1926
Subject(s) - frameshift mutation , stk11 , msh6 , peutz–jeghers syndrome , medicine , msh2 , mutyh , genetics , pathology , biology , mutation , cancer , germline mutation , colorectal cancer , kras , gene , dna mismatch repair
Peutz-Jeghers syndrome (PJS) is a rare disease with clinical manifestations of pigmented spots on the lips, mucous membranes and extremities, scattered gastrointestinal polyps, and susceptibility to tumors. The clinical heterogeneity of PJS is obvious, and the relationship between clinical phenotype and genotype is still unclear.