DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs45553935 ×

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:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls.

31341520

2019

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility.

31347298

2019

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.

30765603

2019

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.

29712865

2018

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Subsequent breast and high grade serous carcinomas after risk-reducing salpingo-oophorectomy in BRCA mutation carriers and patients with history of breast cancer.

30055521

2018

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.

28283652

2017

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

28781887

2016

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Genetic testing for BRCA1 and BRCA2 in the Province of Ontario.

26219728

2016

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

26913838

2016

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

26786923

2016

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

25472942

2015

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Protein stability versus function: effects of destabilizing missense mutations on BRCA1 DNA repair activity.

25748678

2015

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.

23269703

2013

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1: a missing link in the Fanconi anemia/BRCA pathway.

23580280

2013

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes.

21965345

2011

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

21702907

2011

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

21447777

2011

dbSNP:

rs45553935

BRCA1

0.700

GeneticVariation

CLINVAR

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

20516115

2010

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

20516115

2010

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Toward classification of BRCA1 missense variants using a biophysical approach.

20378548

2010

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

17308087

2007

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

17924331

2007

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Functional impact of missense variants in BRCA1 predicted by supervised learning.

17305420

2007

dbSNP:

rs45553935

BRCA1

0.700

GeneticVariation

CLINVAR

Functional impact of missense variants in BRCA1 predicted by supervised learning.

17305420

2007

dbSNP:

rs45553935

BRCA1

0.700

CausalMutation

CLINVAR

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

16267036

2005