MYH Y165C and G382D mutations in hepatocellular carcinoma and cholangiocarcinoma patients.
OBJECTIVE
Production of reactive oxygen species (ROS) during chronic inflammation has been implicated in the progression of liver diseases and carcinogenesis. Subjects with inflammatory liver disease and one non-functional allele of the base excision repair gene, MYH, may be more susceptible to progression to cancer due to MYH haploinsufficiency in repairing oxidative damage caused by ROS. Here, we investigated the association of two common germline MYH mutations in patients with hepatocellular carcinoma (HCC) and cholangiocarcinoma.


METHODS
DNA from patients with HCC (n=48) or cholangiocarcinoma (n=84) compared to non-cancerous controls (n=308) were genotyped for the Y165C and G382D mutations in MYH.


RESULTS
There was no significant difference in MYH mutation carrier status between patients with HCC (1/48), cholangiocarcinoma (3/84), and non-cancerous controls (4/308).


CONCLUSIONS
Patients with HCC or cholangiocarcinoma do not have an increased incidence of monoallelic MYH mutations pre-disposing them to disease.
Baudhuin
Linnea M
LM
Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, 200 First Street SW, 920 Hilton Building, Rochester, MN 55905, USA.
Roberts
Lewis R
LR
Enders
Felicity T B
FT
Swanson
Russell L
RL
Mettler
Teresa A
TA
Aderca
Ileana
I
Stadheim
Linda M
LM
Highsmith
W Edward
WE
D001650:Bile Duct Neoplasms / Q000235:genetics*; D001653:Bile Ducts, Intrahepatic / Q000473:pathology*; D006528:Carcinoma, Hepatocellular / Q000235:genetics*; D018281:Cholangiocarcinoma / Q000235:genetics*; D045647:DNA Glycosylases / Q000235:genetics*; D004252:DNA Mutational Analysis; D004260:DNA Repair; D020022:Genetic Predisposition to Disease; D006801:Humans; D008113:Liver Neoplasms / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase