CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Breast Carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs531398630
rs531398630
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease:
Breast Carcinoma 		0.040 GeneticVariation BEFREE We screened a cohort of 2334 Chinese women with operable primary breast cancer who received a neoadjuvant chemotherapy regimen for CHEK2 H371Y germline mutations. 25884806 2015
dbSNP: rs531398630
rs531398630
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease:
Breast Carcinoma 		0.040 GeneticVariation BEFREE Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin. 24390236 2014
dbSNP: rs531398630
rs531398630
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease:
Breast Carcinoma 		0.040 GeneticVariation BEFREE The p.H371Y mutation was significantly associated with increased breast cancer risk in unselected b</span>reast cancer (odds ratio [OR] 2.43, 95% confidence interval [CI] 1.07-5.52, P = 0.034). 21618645 2011
dbSNP: rs531398630
rs531398630
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease:
Breast Carcinoma 		0.040 GeneticVariation BEFREE However, there may be an association between genetic susceptibility to breast cancer in China and the variant 1111C>T. 18484200 2008