Genopathy
Gene-Disorder Association · Article
Gene
BARD1
BRCA1 Associated RING Domain 1
Disorder
Hereditary Breast Carcinoma
First reported 2010
Supporting publications 70
Key publication · gene–disorder Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.Human mutation · 2010
Key publication · disorder Some characteristics of familial breast cancer.Cancer · 1971
Manually curated
Association Review

In brief

The association between BARD1 (BRCA1 Associated RING Domain 1) and Hereditary Breast Carcinoma is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 3,425
Symptoms 0
Compounds 0
Trials 0
Publications 70
01
At a glance

Association overview

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

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02
Provenance

Evidence and sources

1 source

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

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03
BARD1

The gene

1 source summary

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

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04
Hereditary Breast Carcinoma

The disorder

13 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

3,425 clinical variants

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

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06
Literature

Reading

70 publications

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

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07
Provenance

References & sources

11 references

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

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