DisGeNET - a database of gene-disease associations

BRIP1, BRCA1 interacting protein C-terminal helicase 1, 83990

N. diseases: 194; N. variants: 242

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs786202760

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.800

GeneticVariation

UNIPROT

Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes.

20639400

2010

dbSNP:

rs786202760

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.800

GeneticVariation

UNIPROT

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.

16116424

2005

dbSNP:

rs786202760

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.800

GeneticVariation

UNIPROT

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

16116423

2005

dbSNP:

rs786202760

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.800

GeneticVariation

CLINVAR

dbSNP:

rs786202760

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.800

CausalMutation

CLINVAR

dbSNP:

rs137852986

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.710

GeneticVariation

BEFREE

These results suggest that truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk.

26921362

2016

dbSNP:

rs137852986

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.710

CausalMutation

CLINVAR

dbSNP:

rs4988344

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs6504074

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1261502
Disease:

Finding of Mean Corpuscular Hemoglobin

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs730881645

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0677776
Disease:

Hereditary Breast and Ovarian Cancer Syndrome

0.700

GeneticVariation

CLINVAR

The effects of genomic germline variant reclassification on clinical cancer care.

30728895

2019

dbSNP:

rs1292988272

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.700

GeneticVariation

CLINVAR

Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

29922827

2018

dbSNP:

rs137852986

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

CausalMutation

CLINVAR

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

29368626

2018

dbSNP:

rs368796923

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.700

GeneticVariation

CLINVAR

Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

29922827

2018

dbSNP:

rs587781321

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0677776
Disease:

Hereditary Breast and Ovarian Cancer Syndrome

0.700

CausalMutation

CLINVAR

Pathogenic Germline Variants in 10,389 Adult Cancers.

29625052

2018

dbSNP:

rs730881645

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0677776
Disease:

Hereditary Breast and Ovarian Cancer Syndrome

0.700

GeneticVariation

CLINVAR

Inherited Breast Cancer in Nigerian Women.

30130155

2018

dbSNP:

rs775537066

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.700

CausalMutation

CLINVAR

Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

29922827

2018

dbSNP:

rs780020495

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

CausalMutation

CLINVAR

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

29368626

2018

dbSNP:

rs786203717

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0919267
Disease:

ovarian neoplasm

0.700

CausalMutation

CLINVAR

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

29368626

2018

dbSNP:

rs786203717

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

CausalMutation

CLINVAR

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

29368626

2018

dbSNP:

rs876659533

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0919267
Disease:

ovarian neoplasm

0.700

GeneticVariation

CLINVAR

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

29368626

2018

dbSNP:

rs876659533

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

GeneticVariation

CLINVAR

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

29368626

2018

dbSNP:

rs1257401983

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

CausalMutation

CLINVAR

The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

28961279

2017

dbSNP:

rs368796923

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.700

GeneticVariation

CLINVAR

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

28152038

2017

dbSNP:

rs574552037

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

28152038

2017

dbSNP:

rs587780226

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0919267
Disease:

ovarian neoplasm

0.700

CausalMutation

CLINVAR

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

28495237

2017