Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs555607708
rs555607708
CHEK2
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
CHEK2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR 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. 28514723

2017
dbSNP: rs555607708
rs555607708
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		A 0.700 CausalMutation CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002

2017
dbSNP: rs555607708
rs555607708
CHEK2
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		A 0.700 CausalMutation CLINVAR 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. 28514723

2017
dbSNP: rs555607708
rs555607708
CHEK2
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
CHEK2
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
CHEK2
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
CHEK2
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
CHEK2
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
CHEK2
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
CHEK2
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
CHEK2
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
CHEK2
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
CHEK2
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
CHEK2
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
CHEK2
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
CHEK2
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
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 CausalMutation CLINVAR CHEK2 1100delC variant and breast cancer risk in Caucasians: a meta-analysis based on 25 studies with 29,154 cases and 37,064 controls. 22994785

2012
dbSNP: rs555607708
rs555607708
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		A 0.700 CausalMutation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737

2012
dbSNP: rs555607708
rs555607708
CHEK2
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
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 CausalMutation CLINVAR CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women. 22058428

2011
dbSNP: rs555607708
rs555607708
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 CausalMutation CLINVAR Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility. 21807500

2011
dbSNP: rs555607708
rs555607708
CHEK2
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
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 CausalMutation CLINVAR The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. 19338683

2009
dbSNP: rs555607708
rs555607708
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		A 0.700 CausalMutation CLINVAR The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. 19338683

2009