Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women.

BMC Cancer
David J NovakWilliam D Foulkes

Abstract

BRCA1 and BRCA2 account for the majority of the known familial breast cancer risk, however, the impact of other cancer susceptibility genes largely remains to be elucidated. Checkpoint Kinase 2 (CHEK2) is an important signal transducer of cellular responses to DNA damage, whose defects have been associated with an increase in breast cancer risk. Previous studies have identified low penetrance CHEK2 alleles such as 1100delC and I157T, as well as variants such as S428F in the Ashkenazi Jewish population and IVS2 + 1G>A in the Polish population. No founder allele has been specifically identified in the French Canadian population. The 14 coding exons of CHEK2 were fully sequenced for variant alleles in a panel of 25 affected French Canadian women and 25 healthy controls. Two variants were identified of which one novel variant was further screened for in an additional panel of 667 breast cancer patients and 6548 healthy controls. Additional genotyping was conducted using allele specific PCR and a restriction digest assay. Significance of amino acid substitutions were deduced by employing comparative analysis techniques. Two variants were identified: the previously reported silent substitution 252A>G (E84E) and the novel missense var...Continue Reading

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Citations

Aug 7, 2009·Hereditary Cancer in Clinical Practice·Nagasamy SoumittraThangarajan Rajkumar
Nov 29, 2014·Prostate Cancer·Victoria HaleJong Y Park
Jul 18, 2012·Asian Pacific Journal of Cancer Prevention : APJCP·Chuan LiuYa-Jie Wang
Apr 5, 2011·Journal of Mammary Gland Biology and Neoplasia·Andrew Y Shuen, William D Foulkes

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Methods Mentioned

BETA
PCR
genotyping
electrophoresis
restriction digest
restriction assay

Software Mentioned

Primer3
ClustalW

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