Genopathy
Gene-Disorder Association · Article
Gene
MRE11
MRE11 Double Strand Break Repair Nuclease
Disorder
Hereditary Breast Ovarian Cancer Syndrome
First reported 2016
Supporting publications 12
Key publication · gene–disorder Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.American journal of human genetics · 2016
Key publication · disorder Aggregation of blood platelets by adrenaline and its uptake.Biochemical pharmacology · 1975
Manually curated
Association Review

In brief

The association between MRE11 (MRE11 Double Strand Break Repair Nuclease) and Hereditary Breast Ovarian Cancer Syndrome is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants.

Sources 3
Clinical variants 53
Symptoms 8
Compounds 0
Trials 0
Publications 12
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

3 sources

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

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03
MRE11

The gene

1 source summary

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

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04
Hereditary Breast Ovarian Cancer Syndrome

The disorder

10 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

7 clinical features

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

53 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

12 publications

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

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09
Provenance

References & sources

14 references

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

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