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

P Brennan, J McKay, L Moore, D Zaridze… - Human molecular …, 2007 - academic.oup.com
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 …

Constitutional CHEK2 mutations are associated with a decreased risk of lung and laryngeal cancers

C Cybulski, B Masojć, D Oszutowska… - …, 2008 - academic.oup.com
Mutations in the CHEK2 gene have been associated with increased risks of breast, prostate
and colon cancer. In contrast, a previous report suggests that individuals with the I157T …

Homozygous inactivation of CHEK2 is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs

Y Kukita, J Okami, N Yoneda-Kato… - Molecular …, 2016 - molecularcasestudies.cshlp.org
In clinical practice, there are a number of cancer patients with clear family histories, but the
patients lack mutations in known familial cancer syndrome genes. Recent advances in …

The risk of gastric cancer in carriers of CHEK2 mutations

U Teodorczyk, C Cybulski, D Wokołorczyk… - Familial cancer, 2013 - Springer
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 …

A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers

D Thompson, S Seal, M Schutte, L McGuffog… - … Biomarkers & Prevention, 2006 - AACR
The CHEK2 1100delC protein-truncating mutation has a carrier frequency of∼ 0.7% in
Northern and Western European populations and confers an∼ 2-fold increased risk of …

A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer

C Cybulski, D WokoŁorczyk, T Huzarski… - Journal of medical …, 2006 - jmg.bmj.com
Background: Germline mutations in the Chek2 kinase gene (CHEK2) have been associated
with a range of cancer types. Recently, a large deletion of exons 9 and 10 of CHEK2 was …

Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study

C Näslund-Koch, BG Nordestgaard… - Journal of Clinical …, 2016 - ascopubs.org
Purpose CHEK2 is a cell cycle checkpoint regulator, and the CHEK2* 1100delC germline
mutation leads to loss of function and increased breast cancer risk. It seems plausible that …

[HTML][HTML] CHEK2 is a multiorgan cancer susceptibility gene

C Cybulski, B Gorski, T Huzarski, B Masojć… - The American Journal of …, 2004 - cell.com
A single founder allele of the CHEK2 gene has been associated with predisposition to
breast and prostate cancer in North America and Europe. The CHEK2 protein participates in …

A variant in the CHEK2 promoter at a methylation site relieves transcriptional repression and confers reduced risk of lung cancer

S Zhang, J Lu, X Zhao, W Wu, H Wang, J Lu… - …, 2010 - academic.oup.com
Abstract Checkpoint kinase (CHEK) 2, a tumor suppressor gene, plays an essential role in
the DNA damage checkpoint response cascade. We first investigated two polymorphisms in …

The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients

R Wagener, C Walter, F Auer, D Alzoubi… - … Journal of Cancer, 2023 - Wiley Online Library
Predisposing CHEK2 germline variants are associated with various adult‐type
malignancies, whereas their impact on cancer susceptibility in childhood cancer is unclear …