DisGeNET - a database of gene-disease associations

Source: ALL

Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 ×

Variant: rs80357281 ×

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:

rs80357281

BRCA1

CUI:	C2676676
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

0.700

CausalMutation

CLINVAR

Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.

27272900

2016

dbSNP:

rs80357281

BRCA1

CUI:	C2676676
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

0.700

CausalMutation

CLINVAR

HBOC multi-gene panel testing: comparison of two sequencing centers.

26022348

2015

dbSNP:

rs80357281

BRCA1

CUI:	C2676676
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

0.700

CausalMutation

CLINVAR

A high-throughput functional complementation assay for classification of BRCA1 missense variants.

23867111

2013

dbSNP:

rs80357281

BRCA1

CUI:	C2676676
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

0.700

CausalMutation

CLINVAR

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

21990134

2012

dbSNP:

rs80357281

BRCA1

CUI:	C2676676
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

0.700

CausalMutation

CLINVAR

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

21447777

2011

dbSNP:

rs80357281

BRCA1

CUI:	C2676676
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

0.700

CausalMutation

CLINVAR

Toward classification of BRCA1 missense variants using a biophysical approach.

20378548

2010

dbSNP:

rs80357281

BRCA1

CUI:	C2676676
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

0.700

CausalMutation

CLINVAR

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

20516115

2010

dbSNP:

rs80357281

BRCA1

CUI:	C2676676
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

0.700

CausalMutation

CLINVAR

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.

18824701

2008

dbSNP:

rs80357281

BRCA1

CUI:	C2676676
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

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:

rs80357281

BRCA1

CUI:	C2676676
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

0.700

CausalMutation

CLINVAR

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

17308087

2007

dbSNP:

rs80357281

BRCA1

CUI:	C2676676
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

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