PMID 25751625 2015 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.
rs17879961 in
CHEK2 gene and
Carcinoma of lung
PMID 24880342 2014 We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)).
rs17879961 in
CHEK2 gene and
Malignant neoplasm of breast
PMID 11719428 2001 Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.
PMID 11298456 2001 The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis.
PMID 25583358 2015 CHEK2 mutations and the risk of papillary thyroid cancer.
PMID 24880342 2014 Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
PMID 19876921 2010 CHEK2 mutations and HNPCC-related colorectal cancer.
PMID 18725978 2008 CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.
PMID 23713947 2013 In total, 26,336 cases and 44,219 controls from 18 case-control studies were used in this meta-analysis, and significant associations of the CHEK2 I157T variant with cancer susceptibility were found (OR, 1.39; 95% CI, 1.19-1.63; p<0.0001), breast cancer (OR=1.58, 95% CI=1.42-1.75, p<0.00001) and colorectal cancer (OR=1.67, 95% CI=1.24-2.26, p=0.0008).
PMID 23296741 2013 The risk of gastric cancer in carriers of CHEK2 mutations.
PMID 15239132 2004 The I157T variant may be associated with breast cancer risk, but the risk is lower than for 1100delC.
PMID 22419737 2012 Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
PMID 16835864 2006 Characterization of CHEK2 mutations in prostate cancer.
PMID 16574953 2006 Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia.
PMID 21876083 2011 Seven thousand four hundred ninety-four BRCA1 mutation-negative patients with breast cancer and 4,346 control women were genotyped for four founder mutations in CHEK2 (del5395, IVS2+1G>A, 1100delC, and I157T).
PMID 22811390 2013 BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.
rs17879961 in
CHEK2 gene and
Malignant neoplasm of lung
PMID 24880342 2014 We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)).
rs17879961 in
CHEK2 gene and
Neoplastic Syndromes, Hereditary
PMID 22901170 2012 The CHEK2 I157T variant and colorectal cancer susceptibility: a systematic review and meta-analysis.
PMID 25583358 2015 CHEK2 mutations and the risk of papillary thyroid cancer.
PMID 23713947 2013 The effect of CHEK2 variant I157T on cancer susceptibility: evidence from a meta-analysis.
PMID 25798211 2015 The c.470 T > C CHEK2 missense variant increases the risk of differentiated thyroid carcinoma in the Great Poland population.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID 21701879 2012 Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer.
PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
PMID 22419737 2012 Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
PMID 22799331 2012 The CHEK2 I157T variant and breast cancer susceptibility: a systematic review and meta-analysis.
PMID 19782031 2009 Structure and activation mechanism of the CHK2 DNA damage checkpoint kinase.
PMID 11571648 2001 Functional impact of concomitant versus alternative defects in the Chk2-p53 tumour suppressor pathway.
PMID 11719428 2001 Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.
PMID 20223004 2006 Pilot study on low penetrance breast and colorectal cancer predisposition markers in latvia.
PMID 21514219 2011 Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.
PMID 19876921 2010 CHEK2 mutations and HNPCC-related colorectal cancer.
PMID 15810020 2005 Association of two mutations in the CHEK2 gene with breast cancer.
PMID 12805407 2003 Regulation of the Chk2 protein kinase by oligomerization-mediated cis- and trans-phosphorylation.
PMID 18930998 2009 Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations.
PMID 17085682 2006 A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer.
PMID 18996005 2009 The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population.
PMID 19030985 2009 Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk.
PMID 16816021 2006 CHEK2 I157T associates with familial and sporadic colorectal cancer.
PMID 11298456 2001 The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis.
PMID 11901158 2002 Phosphorylation of threonine 68 promotes oligomerization and autophosphorylation of the Chk2 protein kinase via the forkhead-associated domain.
PMID 15803365 2005 Pathology of breast cancer in women with constitutional CHEK2 mutations.
PMID 15087378 2004 A novel founder CHEK2 mutation is associated with increased prostate cancer risk.
PMID 15492928 2004 CHEK2 is a multiorgan cancer susceptibility gene.
PMID 15239132 2004 CHEK2 variant I157T may be associated with increased breast cancer risk.
PMID 11390408 2001 The hCds1 (Chk2)-FHA domain is essential for a chain of phosphorylation events on hCds1 that is induced by ionizing radiation.
PMID 12049740 2002 Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2.