DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Neoplastic Syndromes, Hereditary ×

Variant: rs80356959 ×

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:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Identification of seven new BRCA1 germline mutations in Italian breast and breast/ovarian cancer families.

8968102

1996

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

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:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations.

14534301

2003

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations.

14534301

2003

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

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

15235020

2004

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1.

15133503

2004

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

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

15235020

2004

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.

15133502

2004

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

15172985

2004

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

15172985

2004

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Solution structure, backbone dynamics, and association behavior of the C-terminal BRCT domain from the breast cancer-associated protein BRCA1.

15609993

2004

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Classification of BRCA1 missense variants of unknown clinical significance.

15689452

2005

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain.

16528612

2006

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

In vitro analysis of genomic instability triggered by BRCA1 missense mutations.

16786532

2006

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Missense mutations of BRCA1 gene affect the binding with p53 both in vitro and in vivo.

16969499

2006

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain.

16528612

2006

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Specific changes in the proteomic pattern produced by the BRCA1-Ser1841Asn missense mutation.

17005433

2007

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

18036263

2007

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

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

17305420

2007

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Specific changes in the proteomic pattern produced by the BRCA1-Ser1841Asn missense mutation.

17005433

2007

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

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

17305420

2007

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

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

20516115

2010

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Toward classification of BRCA1 missense variants using a biophysical approach.

20378548

2010

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

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

20516115

2010

dbSNP:

rs80356959

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Toward classification of BRCA1 missense variants using a biophysical approach.

20378548

2010