DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs28897756 ×

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:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.

22923021

2012

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

BRCA2 germline mutations in Japanese breast cancer families.

9133456

1997

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

BRCA2 fine-tunes the spindle assembly checkpoint through reinforcement of BubR1 acetylation.

22340495

2012

dbSNP:

rs28897756

BRCA2

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:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

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

21324516

2011

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

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

21702907

2011

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

26295337

2015

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.

22632462

2012

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer.

24156927

2014

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer.

19016756

2008

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

Poly(ADP)-ribose polymerase inhibition: frequent durable responses in BRCA carrier ovarian cancer correlating with platinum-free interval.

20406929

2010

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany.

11897832

2002

dbSNP:

rs28897756

BRCA2

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:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

Prevalence and differentiation of hereditary breast and ovarian cancers in Japan.

24249303

2015

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

Prevalence of BRCA1 mutations and responses to neoadjuvant chemotherapy among BRCA1 carriers and non-carriers with triple-negative breast cancer.

25480878

2015

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

26026974

2015

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.

27060066

2016

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

25948282

2015

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

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

28724667

2017

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

OLA1 gene sequencing in patients with BRCA1/2 mutation-negative suspected hereditary breast and ovarian cancer.

27271530

2017

dbSNP:

rs28897756

BRCA2

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:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

22505045

2012

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators.

18375895

2008

dbSNP:

rs28897756

BRCA2

0.700

CausalMutation

CLINVAR

Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada.

17148771

2006

dbSNP: