DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs28897672 ×

Source: CLINVAR ×

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:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.

7894493

1994

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

Mechanisms of BRCA1 tumor suppression.

22843421

2012

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1 : BARD1 induces the formation of conjugated ubiquitin structures, dependent on K6 of ubiquitin, in cells during DNA replication and repair.

14976165

2004

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

21324516

2011

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain.

9525870

1998

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

Contributions of ATM mutations to familial breast and ovarian cancer.

12810666

2003

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

The contribution of founder mutations in BRCA1 to breast and ovarian cancer in Lithuania.

20345474

2010

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.

16168118

2005

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families.

20683152

2010

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

The BRCA1 RING and BRCT domains cooperate in targeting BRCA1 to ionizing radiation-induced nuclear foci.

15569676

2005

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1 physically and functionally interacts with ATF1.

10945975

2000

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.

20103620

2010

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex.

12732733

2003

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.

21520273

2011

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1 RING function is essential for tumor suppression but dispensable for therapy resistance.

22172724

2011

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.

23161852

2013

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

Characterization of BRCA1 ring finger variants of uncertain significance.

19543972

2010

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus.

20569256

2010

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation.

11278247

2001

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance.

18680205

2009

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

Somatic mutations in the BRCA1 gene in sporadic ovarian tumours.

7795652

1995

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

Haplotype of the C61G BRCA1 mutation in Polish and Jewish individuals.

19594371

2009

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.

21922593

2011

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

Prevalence of the most frequent BRCA1 mutations in Polish population.

21503673

2011

dbSNP:

rs28897672

BRCA1

0.700

CausalMutation

CLINVAR

The contribution of founder mutations in BRCA1 to breast cancer in Belarus.

20507347

2010