DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Malignant neoplasm of breast ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs28897672

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.870

GeneticVariation

UNIPROT

The emerging landscape of breast cancer susceptibility.

18163131

2008

dbSNP:

rs28897672

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.870

CausalMutation

CLINVAR

dbSNP:

rs28897672

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.870

GeneticVariation

UNIPROT

Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

15604628

2004

dbSNP:

rs28897672

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.870

GeneticVariation

UNIPROT

Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.

24366376

2014

dbSNP:

rs28897672

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.870

GeneticVariation

UNIPROT

Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.

24366402

2014

dbSNP:

rs28897672

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.870

GeneticVariation

UNIPROT

Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.

17508274

2007

dbSNP:

rs55770810

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

UNIPROT

The emerging landscape of breast cancer susceptibility.

18163131

2008

dbSNP:

rs55770810

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

CausalMutation

CLINVAR

dbSNP:

rs55770810

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

UNIPROT

Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.

24366402

2014

dbSNP:

rs55770810

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

UNIPROT

Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.

17508274

2007

dbSNP:

rs55770810

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

UNIPROT

Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

15604628

2004

dbSNP:

rs55770810

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

UNIPROT

Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.

24366376

2014

dbSNP:

rs28897759

BRCA2

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

UNIPROT

dbSNP:

rs28897759

BRCA2

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

CLINVAR

dbSNP:

rs28897696

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

UNIPROT

The emerging landscape of breast cancer susceptibility.

18163131

2008

dbSNP:

rs28897696

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

CausalMutation

CLINVAR

dbSNP:

rs28897696

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

UNIPROT

Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.

24366376

2014

dbSNP:

rs28897696

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

UNIPROT

Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

15604628

2004

dbSNP:

rs28897696

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

UNIPROT

Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.

17508274

2007

dbSNP:

rs28897696

BRCA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

UNIPROT

Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.

24366402

2014

dbSNP:

rs200928781

CHEK2

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

UNIPROT

Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

15604628

2004

dbSNP:

rs200928781

CHEK2

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

UNIPROT

A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer.

12094328

2002

dbSNP:

rs200928781

CHEK2

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

UNIPROT

The emerging landscape of breast cancer susceptibility.

18163131

2008

dbSNP:

rs200928781

CHEK2

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

CLINVAR

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

25503501

2015

dbSNP:

rs200928781

CHEK2

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.810

GeneticVariation

UNIPROT

Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.

24366402

2014