DisGeNET - a database of gene-disease associations

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, C2676676

Variant: rs41293465 ×

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:

rs41293465

BRCA1

0.700

GeneticVariation

CLINVAR

Prevalence and differentiation of hereditary breast and ovarian cancers in Japan.

24249303

2015

dbSNP:

rs41293465

BRCA1

0.700

GeneticVariation

CLINVAR

Non-founder BRCA1 mutations in Russian breast cancer patients.

20727672

2010

dbSNP:

rs41293465

BRCA1

0.700

GeneticVariation

CLINVAR

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

20104584

2010

dbSNP:

rs41293465

BRCA1

0.700

CausalMutation

CLINVAR

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

20104584

2010

dbSNP:

rs41293465

BRCA1

0.700

CausalMutation

CLINVAR

Non-founder BRCA1 mutations in Russian breast cancer patients.

20727672

2010

dbSNP:

rs41293465

BRCA1

0.700

GeneticVariation

CLINVAR

Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource.

18446624

2008

dbSNP:

rs41293465

BRCA1

0.700

GeneticVariation

CLINVAR

Founder mutations in BRCA1 and BRCA2 genes.

17591843

2007

dbSNP:

rs41293465

BRCA1

0.700

GeneticVariation

CLINVAR

Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients.

16998791

2006

dbSNP:

rs41293465

BRCA1

0.700

GeneticVariation

CLINVAR

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

16683254

2006

dbSNP:

rs41293465

BRCA1

0.700

CausalMutation

CLINVAR

Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients.

16998791

2006

dbSNP:

rs41293465

BRCA1

0.700

GeneticVariation

CLINVAR

BRCA1 interacts with acetyl-CoA carboxylase through its tandem of BRCT domains.

12360400

2002

dbSNP:

rs41293465

BRCA1

0.700

GeneticVariation

CLINVAR

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

11802209

2002

dbSNP:

rs41293465

BRCA1

0.700

GeneticVariation

CLINVAR

BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines.

11920621

2002

dbSNP:

rs41293465

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1-induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations.

11739404

2001

dbSNP:

rs41293465

BRCA1

0.700

GeneticVariation

CLINVAR

A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.

9760198

1998

dbSNP:

rs41293465

BRCA1

0.700

GeneticVariation

CLINVAR

A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.

8554067

1996

dbSNP:

rs41293465

BRCA1

0.700

CausalMutation

CLINVAR

A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.

8554067

1996