DisGeNET - a database of gene-disease associations

Nephroblastoma, C0027708

Variant: rs1555913934 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer.

24723567

2014

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.

23409019

2013

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.

22811390

2013

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

Excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive familial breast cancer cases.

23415889

2013

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis.

21956126

2012

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

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

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

A risk of essential thrombocythemia in carriers of constitutional CHEK2 gene mutations.

22058216

2012

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

Frequency of the CHEK2 1100delC mutation among women with early-onset and bilateral breast cancer.

22520019

2012

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases.

22691310

2012

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

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

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families.

23329222

2012

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

22006311

2011

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women.

22058428

2011

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

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

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer.

21876083

2011

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

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

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

CHEK2 1100delC and male breast cancer in the Netherlands.

18759107

2009

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk.

19030985

2009

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

CHEK2 is a multiorgan cancer susceptibility gene.

15492928

2004

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations.

11967536

2002

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

11719428

2001

dbSNP:

rs1555913934

CHEK2

0.700

CausalMutation

CLINVAR

Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.

10617473

1999