Variant: rs137853007 

    present in Gene: CHEK2
    present in Chromosome: 22
    Position on Chromosome: 28725254
    Alleles of this Variant: G/A;T

rs137853007 in CHEK2 gene and Li-Fraumeni Syndrome PMID 22419737 2012 Response to DNA damage of CHEK2 missense mutations in familial breast cancer.

PMID 12049740 2002 Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2.

PMID 11298456 2001 The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis.

PMID 11719428 2001 Here, we describe a CHK2 missense mutation (R145W) in another LFS family.

rs137853007 in CHEK2 gene and Li-Fraumeni Syndrome 2 PMID 11719428 2001 Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

rs137853007 in CHEK2 gene and Malignant neoplasm of breast PMID 11053450 2001 Characterization of tumor-associated Chk2 mutations.

PMID 15535844 2004 We report here on the frequency of three CHEK2 variants that alter protein function--1100delC, R145W, and I175T--in 506 cases and 459 controls from a population based, case-control study of breast cancer conducted in young women from western Washington.

PMID 12049740 2002 Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2.

PMID 27067391 2016 A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

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 11571648 2001 Functional impact of concomitant versus alternative defects in the Chk2-p53 tumour suppressor pathway.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 11298456 2001 The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis.

PMID 11719428 2001 Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

PMID 15239132 2004 CHEK2 variant I157T may be associated with increased breast cancer risk.

PMID 23334666 2013 The genetic landscape of high-risk neuroblastoma.

PMID 22419737 2012 Response to DNA damage of CHEK2 missense mutations in familial breast cancer.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 16982735 2006 Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation.

PMID 22114986 2011 CHEK2 contribution to hereditary breast cancer in non-BRCA families.

rs137853007 in CHEK2 gene and Neoplastic Syndromes, Hereditary PMID 15535844 2004 Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women.

PMID 11719428 2001 Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

PMID 22114986 2011 CHEK2 contribution to hereditary breast cancer in non-BRCA families.

PMID 19782031 2009 Structure and activation mechanism of the CHK2 DNA damage checkpoint kinase.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 11298456 2001 The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 22419737 2012 Response to DNA damage of CHEK2 missense mutations in familial breast cancer.

PMID 12049740 2002 Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2.

PMID 11053450 2001 Characterization of tumor-associated Chk2 mutations.