DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs55770810 ×

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:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

"A new case of ""de novo"" BRCA1 mutation in a patient with early-onset breast cancer."

28265380

2017

dbSNP:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

25472942

2015

dbSNP:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

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

23867111

2013

dbSNP:

rs55770810

BRCA1

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:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.

22889855

2012

dbSNP:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

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

21324516

2011

dbSNP:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

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

21702907

2011

dbSNP:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.

21473589

2011

dbSNP:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

21356067

2011

dbSNP:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

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

20516115

2010

dbSNP:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.

19563646

2009

dbSNP:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

Association of the BRCA1 missense variant R1699W with a malignant phyllodes tumor of the breast.

17574969

2007

dbSNP:

rs55770810

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:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

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

17308087

2007

dbSNP:

rs55770810

BRCA1

0.700

CausalMutation

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:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.

11157798

2001