Association Review
In brief The association between CASP8 (Caspase 8) and Breast Cancer is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a known molecular basis and a susceptibility locus.
Sources
2
Clinical variants
2
Symptoms
4
Compounds
0
Trials
0
Publications
26
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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02
Provenance
Evidence and sources 2 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
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2 source summaries
A gene summary alongside the source descriptions it was distilled from.
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04
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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05
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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06
ClinVar and variant evidence
Genetic basis 2 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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07
Population genetics
GWAS signals 3 GWAS phenotypes
Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.
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08
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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26 publications
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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10
Provenance
References & sources 20 references
Every source and publication cited across this dossier, as one numbered reference list.
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