Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs531398630
rs531398630
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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