Genopathy
Gene-Disorder Association · Article
Gene
BRCA2
BRCA2 DNA Repair Associated
Disorder
Wilms Tumor 1
First reported 2004
Supporting publications 38
Key publication · gene–disorder Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood.Blood · 2004
Key publication · disorder Wilms' tumor: evaluation of treatment methods.Radiology · 1950
Manually curated
Association Review

In brief

The association between BRCA2 (BRCA2 DNA Repair Associated) and Wilms Tumor 1 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 4
Clinical variants 372
Symptoms 27
Compounds 0
Trials 0
Publications 38
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
BRCA2

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Wilms Tumor 1

The disorder

18 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

27 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

372 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

38 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

17 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access