rs17879961, CHEK2

N. diseases: 53
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Association of two mutations in the CHEK2 gene with breast cancer. 15810020 2005
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation CLINVAR BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. 22811390 2013
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.030 GeneticVariation BEFREE Case report of a woman with monoclonal gammapathy and papillary thyroid carcinoma, diagnosed because of detection of CHEK2 (I157T) mutation in genetic examinations. 21049466 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation CLINVAR Characterization of CHEK2 mutations in prostate cancer. 16835864 2006
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Characterization of tumor-associated Chk2 mutations. 11053450 2001
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
0.070 GeneticVariation BEFREE CHEK2 I157T associates with familial and sporadic colorectal cancer. 16816021 2006
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE CHEK2 I157T associates with an increased risk of CRC: the association was observed both among familial and sporadic CRC patients. 16816021 2006
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.030 GeneticVariation BEFREE CHEK2 I157T associates with an increased risk of CRC: the association was observed both among familial and sporadic CRC patients. 16816021 2006
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
0.070 GeneticVariation BEFREE CHEK2 I157T and colorectal cancer in Bulgaria. 20658728 2010
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR CHEK2 I157T associates with familial and sporadic colorectal cancer. 16816021 2006
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR CHEK2 is a multiorgan cancer susceptibility gene. 15492928 2004
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation CLINVAR CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer. 18725978 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation CLINVAR CHEK2 mutations and HNPCC-related colorectal cancer. 19876921 2010
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR CHEK2 mutations and HNPCC-related colorectal cancer. 19876921 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation CLINVAR CHEK2 mutations and the risk of papillary thyroid cancer. 25583358 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR CHEK2 mutations and the risk of papillary thyroid cancer. 25583358 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR CHEK2 variant I157T may be associated with increased breast cancer risk. 15239132 2004
Adult Hepatocellular Carcinoma
CUI: C0279607
Disease: Adult Hepatocellular Carcinoma
0.010 GeneticVariation BEFREE CHK2 1100delC, IVS2+1G>A and I157T mutations are not present in hepatocellular cancer cases from a Turkish population. 23107771 2013
Malignant neoplasm of liver
CUI: C0345904
Disease: Malignant neoplasm of liver
0.010 GeneticVariation BEFREE CHK2 1100delC, IVS2+1G>A and I157T mutations are not present in hepatocellular cancer cases from a Turkish population. 23107771 2013
Childhood Hepatocellular Carcinoma
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
0.010 GeneticVariation BEFREE CHK2 1100delC, IVS2+1G>A and I157T mutations are not present in hepatocellular cancer cases from a Turkish population. 23107771 2013
Luminal A Breast Carcinoma
CUI: C3642345
Disease: Luminal A Breast Carcinoma
0.010 GeneticVariation BEFREE Comparing the prevalence of CHEK2 mutations in BC with controls revealed that carriers of an I157T variant had OR of 1.80 for luminal A subtype and carriers of truncating mutations had OR of 6.26 for luminal B subtype of BC. 21701879 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE Comparing the prevalence of CHEK2 mutations in BC with controls revealed that carriers of an I157T variant had OR of 1.80 for luminal A subtype and carriers of truncating mutations had OR of 6.26 for luminal B subtype of BC. 21701879 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation BEFREE Comparing the prevalence of CHEK2 mutations in BC with controls revealed that carriers of an I157T variant had OR of 1.80 for luminal A subtype and carriers of truncating mutations had OR of 6.26 for luminal B subtype of BC. 21701879 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE Despite the lack of association of I157T mutation with breast cancer development in our population we deduced that the FHA domain is the subject of rare population-specific alterations that might modify risk of various cancers. 18058223 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.800 GeneticVariation BEFREE Despite the lack of association of I157T mutation with breast cancer development in our population we deduced that the FHA domain is the subject of rare population-specific alterations that might modify risk of various cancers. 18058223 2008