Recently, the CHK2 gene was identified as being a candidate gene responsibl
e for Li-Fraumeni syndrome (LFS), Gastric cancer is often clustered in fami
lies with LFS, so it is possible that germline CHK2 mutation is also presen
t in familial gastric cancer (FGC), We therefore defined the genomic struct
ure of the CHK2 gene, designed intronic primers, and searched for germline
CHK2 mutations in 25 FGC Eases by polymerase chain reaction-single strand c
onformational polymorphism analysis of the entire coding region. In all of
the 25 cases, at least two siblings had histories of gastric cancer. There
were no FGC cases that showed germline CHK2 mutations, Thus, it was indicat
ed that germline CHK2 mutations do not contribute to the familial clusterin
g of gastric cancer.