Publication
Penetrance analysis of the PALB2 c.1592delT founder mutation.
Authors not recorded
Clin Cancer Res2008PMID 18628482stubpubmedProvenance
- 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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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
- genePALB2civic_curation1.00
- variantPALB2 L531FS*30civic_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
- 18628482
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| PALB2 L531FS*301 | ||||||||
| (diagnostic) | Malignant Breast Neoplasm | Diagnostic | B | Supports Positive | 3 | accepted | EID1318Study explored the known PALB2 variant c.1592delT (p.L531C) in the context of breast cancer. The study found that among an augmented cohort of breast cancer patients with the variant, there was a haza… (full text at CIViC) PMID 18628482 · Erkko et al., 2008 · Open in CIViC | civic |