CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Malignant neoplasm of ovary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1140680
Disease:
Malignant neoplasm of ovary 		0.710 GeneticVariation BEFREE The association between the I157T missense variant was then confirmed in a second sample of Russian patients with borderline ovarian cancers</span> (OR = 2.7; P = 0.06). 16828850 2006
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1140680
Disease:
Malignant neoplasm of ovary 		G 0.710 GeneticVariation CLINVAR
dbSNP: rs137853011
rs137853011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1140680
Disease:
Malignant neoplasm of ovary 		0.010 GeneticVariation BEFREE This karyotype phenotype was not observed in other tested tissues or in an ovarian cancer patient with a different homozygous missense mutation in <i>CHEK2</i> (c.1283C>T; p.Ser428Phe). 30858171 2019
dbSNP: rs200928781
rs200928781
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1140680
Disease:
Malignant neoplasm of ovary 		0.010 GeneticVariation BEFREE Four of the Y390C carriers have family history of breast and/or ovarian cancer. 25619829 2015
dbSNP: rs1805129
rs1805129
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1140680
Disease:
Malignant neoplasm of ovary 		0.010 GeneticVariation BEFREE Mutation screening of the CHEK2 gene in 48 cases who had a first-degree relative with OvCa uncovered only del1100C and A252G variants. 15385111 2004
dbSNP: rs587780191
rs587780191
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C1140680
Disease:
Malignant neoplasm of ovary 		0.010 GeneticVariation BEFREE Mutation screening of the CHEK2 gene in 48 cases who had a first-degree relative with OvCa uncovered only del1100C and A252G variants. 15385111 2004