CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Nephroblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer. 24723567 2014
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR Excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive familial breast cancer cases. 23415889 2013
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. 22811390 2013
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. 23409019 2013
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases. 22691310 2012
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease 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
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR A risk of essential thrombocythemia in carriers of constitutional CHEK2 gene mutations. 22058216 2012
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. 23109706 2012
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR Frequency of the CHEK2 1100delC mutation among women with early-onset and bilateral breast cancer. 22520019 2012
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families. 23329222 2012
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis. 21956126 2012
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women. 22058428 2011
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311 2011
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. 21876083 2011
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. 21244692 2011
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer. 20722467 2010
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk. 19030985 2009
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR CHEK2 1100delC and male breast cancer in the Netherlands. 18759107 2009
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR CHEK2 is a multiorgan cancer susceptibility gene. 15492928 2004
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. 11967536 2002
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 11719428 2001
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 CausalMutation disease CLINVAR Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. 10617473 1999