DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

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

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

28324225

2017

dbSNP:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

28724667

2017

dbSNP:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.

28477318

2017

dbSNP:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.

28831036

2017

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

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

24055113

2013

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

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

21965345

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

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

15235020

2004

dbSNP:

rs55770810

BRCA1

0.700

CausalMutation

CLINVAR

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

11157798

2001