Publication
CDKN2A germline splicing mutation affecting both p16(ink4) and p14(arf) RNA processing in a melanoma/neurofibroma kindred.
Authors not recorded
Genes Chromosomes Cancer2001PMID 11433531stubpubmedProvenance
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
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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
- cancerMelanomacivic_curation1.00
- geneCDKN2Acivic_curation1.00
- variantCDKN2A c.151-1G>Ccivic_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
- 11433531
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| CDKN2A c.151-1G>C1 | ||||||||
| (predisposing) | Melanoma | Predisposing | C | Supports Predisposition | 3 | accepted | EID7765Skipping of exon 2 of both the CDKN2A p14 and p16 isoform transcripts was detected by RT-PCR in a lymphoblastoid cell line derived from a patient carrying the c.151-1G>C variant. The novel CDKN2A spl… (full text at CIViC) PMID 11433531 · Petronzelli et al., 2001 · Open in CIViC | civic |