Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Colorectal cancer risk associated with the CHEK2 1100delC variant. 28734145

2017

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population. 28874143

2017

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395

2016

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. 26822237

2016

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study. 26884562

2016

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers. 27269948

2016

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings. 27083775

2016

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia. 26641009

2016

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR The germline mutations of the CHEK2 gene are associated with an increased risk of polycythaemia vera. 26084796

2016

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. 27751358

2016

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846

2016

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR CHEK2 mutations and the risk of papillary thyroid cancer. 25583358

2015

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. 22811390

2013

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis. 21956126

2012

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility. 21807500

2011

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. 15122511

2004

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. 11967536

2002

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Characterization of tumor-associated Chk2 mutations. 11053450

2001

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 11719428

2001

dbSNP: rs555607708
rs555607708
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. 10617473

1999