Genopathy
Gene-Disorder Association · Article
Gene
BRCA1
BRCA1 DNA Repair Associated
Disorder
Hereditary Breast Carcinoma
First reported 2003
Supporting publications 196
Key publication · gene–disorder Epithelial lesions in prophylactic mastectomy specimens from women with BRCA mutations.Cancer · 2003
Key publication · disorder Some characteristics of familial breast cancer.Cancer · 1971
Manually curated
Association Review

In brief

The association between BRCA1 (BRCA1 DNA Repair Associated) and Hereditary Breast Carcinoma is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording pathogenic variants and a susceptibility locus.

Sources 2
Clinical variants 700
Symptoms 0
Compounds 0
Trials 0
Publications 196
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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03
BRCA1

The gene

2 source summaries

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

700 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

196 publications

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

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07
Provenance

References & sources

13 references

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

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