The risk of gastric cancer in carriers of CHEK2 mutations

CHEK2 is a tumor suppressor gene whose functions are central to the induction of cell cycle arrest and apoptosis following DNA damage. Mutations in CHEK2 have been associated with cancers at many sites, including breast and prostate cancers, but the relationship between CHEK2 and gastric cancer has...

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Bibliographic Details
Published in:Familial cancer 2013-09, Vol.12 (3), p.473-478
Main Authors: Teodorczyk, Urszula, Cybulski, Cezary, Wokołorczyk, Dominika, Jakubowska, Anna, Starzyńska, Teresa, Ławniczak, Małgorzata, Domagała, Paweł, Ferenc, Katarzyna, Marlicz, Krzysztof, Banaszkiewicz, Zbigniew, Wiśniowski, Rafał, Narod, Steven A., Lubiński, Jan
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Biomedical and Life Sciences
Biomedicine
Cancer Research
Case-Control Studies
Checkpoint Kinase 2 - genetics
Epidemiology
Female
Genetic Predisposition to Disease
Genotype
Heterozygote
Human Genetics
Humans
Male
Middle Aged
Mutation - genetics
Original Article
Prognosis
Stomach Neoplasms - genetics
Young Adult
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Summary:CHEK2 is a tumor suppressor gene whose functions are central to the induction of cell cycle arrest and apoptosis following DNA damage. Mutations in CHEK2 have been associated with cancers at many sites, including breast and prostate cancers, but the relationship between CHEK2 and gastric cancer has not been extensively studied. In Poland, there are four known founder alleles of CHEK2; three alleles are protein truncating (1100delC, IVS2G>A, del5395) and the other is a missense variant (I157T). We examined the frequencies of four Polish founder mutations in the CHEK2 gene in 658 unselected gastric cancer patients, in 154 familial gastric cancer patients and in 8,302 controls. A CHEK2 mutation was seen in 57 of 658 (8.7 %) unselected patients with gastric cancer compared to 480 of 8,302 (5.8 %) controls (OR 1.6, p  = 0.004). A CHEK2 mutation was present in 19 of 154 (12.3 %) familial cases (OR = 2.3, p  = 0.001). The odds ratio for early onset (
ISSN:1389-9600
1573-7292
DOI:10.1007/s10689-012-9599-2