DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs397509284 ×

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:

rs397509284

BRCA1

0.700

CausalMutation

CLINVAR

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

28724667

2017

dbSNP:

rs397509284

BRCA1

0.700

CausalMutation

CLINVAR

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

28831036

2017

dbSNP:

rs397509284

BRCA1

0.700

CausalMutation

CLINVAR

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

25863477

2015

dbSNP:

rs397509284

BRCA1

0.700

CausalMutation

CLINVAR

Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.

22217648

2012

dbSNP:

rs397509284

BRCA1

0.700

CausalMutation

CLINVAR

Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

22798144

2012

dbSNP:

rs397509284

BRCA1

0.700

CausalMutation

CLINVAR

The Korean Hereditary Breast Cancer (KOHBRA) study: protocols and interim report.

21497495

2011

dbSNP:

rs397509284

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.

15365993

2004