Publication
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.
Authors not recorded
Hum Mutat2008PMID 18951446PMC3075918stubpubmedProvenance
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
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No abstract stored. Read on PubMed
Linked entities
Linked entities (3)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 3
- cancerMalignant Breast Neoplasmcivic_curation1.00
- geneBRCA2civic_curation1.00
- variantBRCA2 D3095Ecivic_curation1.00
Curated evidence
Evidence citing this paper (1)
civicProvenance
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 18951446
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| BRCA2 D3095E1 | ||||||||
| (predisposing) | Malignant Breast Neoplasm | Predisposing | C | Supports Predisposition | 3 | accepted | EID167949-year old woman diagnosed with breast cancer was assessed for BRCA2 mutations. Algorithms including Align-GVGD predicted pathogenicity, however PolyPhen predicted that this variant was benign. The a… (full text at CIViC) PMID 18951446 · Plon et al., 2008 · Open in CIViC | civic |