Gene-Disorder Association · Article
Gene
BRCA1 BRCA1 DNA Repair Associated
×
First reported
1993
Supporting publications
352
Manually curated Approved treatment annotated
Association Review
In brief The association between BRCA1 (BRCA1 DNA Repair Associated) and Breast Cancer is well established and manually curated, with its 4 contributing sources — 2 of them expert-curated — recording pathogenic variants and causative variation.
Sources
4
Clinical variants
1,016
Symptoms
4
Compounds
11
Trials
1,833 of 9,854 via BRCA1 compounds
Publications
352
Contents
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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Provenance
Evidence and sources 4 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
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A gene summary alongside the source descriptions it was distilled from.
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Breast Cancer
The disorder 23 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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Phenotype
Clinical features 1 clinical feature
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
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ClinVar and variant evidence
Genetic basis 1,016 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Genomic context
Regulatory context 1 regulatory element
GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.
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Mechanism overlap
Shared mechanisms 1 shared pathway
Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
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Interventions
Therapeutics 11 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 9,854 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
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Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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Provenance
References & sources 24 references
Every source and publication cited across this dossier, as one numbered reference list.
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