CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.390 Biomarker disease BEFREE Alterations in BRCA2, PALB2, CHEK2, and p53 genes have been identified for their association with male breast cancer in various studies. 31203460 2019
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.390 Biomarker disease BEFREE Pathogenic variants in BRCA2 [odds ratio (OR) = 13.9; p = 1.92 × 10<sup>-16</sup>], CHEK2 (OR = 3.7; p = 6.24 × 10<sup>-24</sup>), and PALB2 (OR = 6.6, p = 0.01) were associated with significantly increased risks of MBC. 28008555 2017
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.390 GeneticVariation disease BEFREE These data suggest that the CHEK2 c.1100delC mutation is associated with an increased risk for MBC in the Finnish population. 28874143 2017
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.390 Biomarker disease BEFREE Analysis of the ATR-Chk1 and ATM-Chk2 pathways in male breast cancer revealed the prognostic significance of ATR expression. 28808232 2017
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.390 GeneticVariation disease BEFREE Our data suggest that, in the Netherlands, CHEK2 1100delC is associated with an increased risk for MBC. 18759107 2009
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.390 GeneticVariation disease BEFREE Here, we investigated the contribution of BRCA1, BRCA2 and CHEK2 alterations to MBC predisposition in Italy by analysing a large series of MBC cases, unselected for breast cancer family history and all negative for BRCA1/BRCA2 germ-line mutations. 17661168 2008
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.390 GeneticVariation disease BEFREE Germline mutations in both BRCA2 and CHEK2 are associated with an increased risk for male breast cancer. 18797466 2008
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.390 Biomarker disease BEFREE To extend our knowledge on the role of CHEK2 in susceptibility to male breast cancer we have screened a series of 26 breast cancer cases with male representation for germline sequence variation in the CHEK2 gene. 15488637 2004
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.390 GeneticVariation disease BEFREE We wanted to evaluate the significance of CHEK2 1100delC in predisposition to MBC by assessing its frequency in a population-based material of 114 Finnish MBC patients. 14648717 2004
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.390 Biomarker disease CTD_human Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. 11967536 2002