Gene-Disorder Association · Article
Gene
BRCA2 BRCA2 DNA Repair Associated
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First reported
1996
Supporting publications
53
Manually curated Approved treatment annotated
Association Review
In brief The association between BRCA2 (BRCA2 DNA Repair Associated) and Pancreatic Cancer is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a susceptibility locus.
Sources
3
Clinical variants
57
Symptoms
35
Compounds
1
Trials
747 of 2,668 via BRCA2 compounds
Publications
53
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 3 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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Pancreatic Cancer
The disorder 33 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 26 clinical features
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 57 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Population genetics
GWAS signals 1 GWAS phenotype
Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.
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Mechanism overlap
Shared mechanisms Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
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Interventions
Therapeutics 1 compound or drug
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 2,668 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 19 references
Every source and publication cited across this dossier, as one numbered reference list.
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