DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs28897743 ×

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:

rs28897743

BRCA2

0.700

CausalMutation

CLINVAR

A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13.

16792514

2006

dbSNP:

rs28897743

BRCA2

0.700

CausalMutation

CLINVAR

Inherited FANCD1/BRCA2 exon 7 splice mutations associated with acute myeloid leukaemia in Fanconi anaemia D1 are not found in sporadic childhood leukaemia.

16115142

2005

dbSNP:

rs28897743

BRCA2

0.700

CausalMutation

CLINVAR

A high proportion of founder BRCA1 mutations in Polish breast cancer families.

15146557

2004

dbSNP:

rs28897743

BRCA2

0.700

CausalMutation

CLINVAR

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.

15026808

2004

dbSNP:

rs28897743

BRCA2

0.700

CausalMutation

CLINVAR

Biallelic inactivation of BRCA2 in Fanconi anemia.

12065746

2002

dbSNP:

rs28897743

BRCA2

0.700

GeneticVariation

CLINVAR

BRCA2 mutations in hereditary breast and ovarian cancer in France.

9150172

1997

dbSNP:

rs28897743

BRCA2

0.700

CausalMutation

CLINVAR

BRCA2 mutations in hereditary breast and ovarian cancer in France.

9150172

1997

dbSNP:

rs28897743

BRCA2

0.700

CausalMutation

CLINVAR