Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma.
The base excision repair gene MYH protects against damage to DNA from reactive oxygen species, which are commonly found in cigarette smoke. Inherited mutations in MYH predispose to colorectal adenomas and carcinomas that show a characteristic pattern of somatic G:C-->T:A mutations in the APC gene. A similar pattern of somatic mutations in the TP53 gene is reported in smoking-related lung cancers. We therefore tested whether germline changes in MYH may also contribute to the development of lung cancer by screening for variants in 276 patients with lung carcinoma and 106 normal controls. No patients harboured truncating mutations in MYH and only a single patient was a carrier for the G382D missense mutation. We identified three common coding region (V22M, Q324H and S501F) and intronic (157+30A>G, 462+35G>A and 1435-40G>C) variants, but none were over-represented in the patient samples, indicating that MYH variants are unlikely to predispose significantly to the risk of lung cancer.
Al-Tassan
Nada
N
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, Wales, UK.
Eisen
Tim
T
Maynard
Julie
J
Bridle
Helen
H
Shah
Bindiya
B
Fleischmann
Christina
C
Sampson
Julian R
JR
Cheadle
Jeremy P
JP
Houlston
Richard S
RS
D000230:Adenocarcinoma / Q000201:enzymology / Q000235:genetics; D018287:Carcinoma, Large Cell / Q000201:enzymology / Q000235:genetics; D002289:Carcinoma, Non-Small-Cell Lung / Q000201:enzymology / Q000235:genetics; D018288:Carcinoma, Small Cell / Q000201:enzymology / Q000235:genetics; D002294:Carcinoma, Squamous Cell / Q000201:enzymology / Q000235:genetics; D016022:Case-Control Studies; D045647:DNA Glycosylases / Q000235:genetics*; D004273:DNA, Neoplasm / Q000097:blood / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D008168:Lung / Q000502:physiology; D008175:Lung Neoplasms / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012307:Risk Factors
D004273:DNA, Neoplasm; D045647:DNA Glycosylases; C061738:mutY adenine glycosylase