Journal article

Uncommon CHEK2 mis-sense variant and reduced risk of tobacco-related cancers: case-control study

Paul Brennan, James Mckay, Lee Moore, David Zaridze, Anush Mukeria, Neonilia Szeszenia-Dabrowska, Jolanta Lissowska, Peter Rudnai, Eleonora Fabianova, Dana Mates, Vladimir Bencko, Lenka Foretova, Vladimir Janout, Wong-Ho Chow, Nathanial Rothman, Amelie Chabrier, Valerie Gaborieau, Fabrice Odefrey, Melissa Southey, Mia Hashibe Show all

HUMAN MOLECULAR GENETICS | OXFORD UNIV PRESS | Published : 2007

Abstract

CHEK2 is a key cell cycle control gene encoding a pluripotent kinase that can cause arrest or apoptosis in response to unrepaired DNA damage. We report a large case-control study of a non-functional variant that had previously been expected to increase cancer rates. Four thousand and fifteen cancer patients (2250 lung, 811 squamous upper aero-digestive and 954 kidney) and 3052 controls in central Europe were genotyped for the mis-sense variant rs17879961 (replacement of T by C), which changes an amino acid (I157T) in an active site of the gene product. The heterozygous (T/C) genotype was associated with a highly significantly lower incidence of lung cancer than the common T/T genotype [relat..

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University of Melbourne Researchers