Variant: rs555607708 

    present in Gene: CHEK2
    present in Chromosome: 22
    Position on Chromosome: 28695869
    Alleles of this Variant: G/-

rs555607708 in CHEK2 gene and Li-Fraumeni Syndrome PMID 22419737 2012 Response to DNA damage of CHEK2 missense mutations in familial breast cancer.

PMID 15520402 2004 Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers.

PMID 19338683 2009 The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.

PMID 28779002 2017 Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

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

PMID 10617473 1999 Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.

rs555607708 in CHEK2 gene and Malignant neoplasm of breast PMID 22058428 2011 CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women.

PMID 18172190 2008 CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls.

PMID 19338683 2009 The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.

PMID 17085682 2006 A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer.

PMID 15122511 2004 CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies.

PMID 21807500 2011 Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility.

PMID 12533788 2003 Mutations in CHEK2 associated with prostate cancer risk.

PMID 22994785 2012 CHEK2 1100delC variant and breast cancer risk in Caucasians: a meta-analysis based on 25 studies with 29,154 cases and 37,064 controls.

PMID 15492928 2004 CHEK2 is a multiorgan cancer susceptibility gene.

rs555607708 in CHEK2 gene and Mammary Neoplasms PMID 28514723 2017 Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma.

rs555607708 in CHEK2 gene and Neoplastic Syndromes, Hereditary PMID 26822237 2016 Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

PMID 25583358 2015 CHEK2 mutations and the risk of papillary thyroid cancer.

PMID 21956126 2012 CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis.

PMID 22811390 2013 BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.

PMID 27269948 2016 Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.

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

PMID 27083775 2016 Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

PMID 26641009 2016 Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.

PMID 26884562 2016 Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study.

PMID 26084796 2016 The germline mutations of the CHEK2 gene are associated with an increased risk of polycythaemia vera.

PMID 21807500 2011 Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility.

PMID 11053450 2001 Characterization of tumor-associated Chk2 mutations.

PMID 10617473 1999 Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.

PMID 11967536 2002 Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations.

PMID 15122511 2004 CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies.

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

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 27751358 2016 Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 28874143 2017 CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.

PMID 28734145 2017 Colorectal cancer risk associated with the CHEK2 1100delC variant.

rs555607708 in CHEK2 gene and leiomyosarcoma PMID 28514723 2017 Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma.