DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs142763740 ×

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:

rs142763740

CHEK2

0.700

GeneticVariation

CLINVAR

Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.

29368341

2018

dbSNP:

rs142763740

CHEK2

0.700

GeneticVariation

CLINVAR

A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer.

29520813

2018

dbSNP:

rs142763740

CHEK2

0.700

GeneticVariation

CLINVAR

Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.

28495237

2017

dbSNP:

rs142763740

CHEK2

0.700

GeneticVariation

CLINVAR

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

28944238

2017

dbSNP:

rs142763740

CHEK2

0.700

GeneticVariation

CLINVAR

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

28008555

2017

dbSNP:

rs142763740

CHEK2

0.700

GeneticVariation

CLINVAR

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

26681312

2016

dbSNP:

rs142763740

CHEK2

0.700

GeneticVariation

CLINVAR

Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.

27621404

2016

dbSNP:

rs142763740

CHEK2

0.700

GeneticVariation

CLINVAR

Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

26483394

2016

dbSNP:

rs142763740

CHEK2

0.700

GeneticVariation

CLINVAR

Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.

27443514

2016

dbSNP:

rs142763740

CHEK2

0.700

GeneticVariation

CLINVAR

Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.

27751358

2016

dbSNP:

rs142763740

CHEK2

0.700

GeneticVariation

CLINVAR

Retroperitoneal dedifferentiated liposarcoma lacking MDM2 amplification in a patient with a germ line CHEK2 mutation.

24595525

2014

dbSNP:

rs142763740

CHEK2

0.700

GeneticVariation

CLINVAR

Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.

23552953

2013

dbSNP:

rs142763740

CHEK2

0.700

GeneticVariation

CLINVAR

CHEK2 gene alterations independently increase the risk of death from breast cancer in Bulgarian patients.

22862163

2012

dbSNP:

rs142763740

CHEK2

0.700

GeneticVariation

CLINVAR

Response to DNA damage of CHEK2 missense mutations in familial breast cancer.

22419737

2012

dbSNP:

rs142763740

CHEK2

0.700

GeneticVariation

CLINVAR

CHEK2 contribution to hereditary breast cancer in non-BRCA families.

22114986

2011

dbSNP:

rs142763740

CHEK2

0.700

GeneticVariation

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:

rs142763740

CHEK2

0.700

GeneticVariation

CLINVAR

Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.

10617473

1999