Publication
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.
Authors not recorded
Science1999PMID 10617473stubpubmedProvenance
- 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
- cancerMalignant Neoplasmcivic_curation1.00
- geneCHEK2civic_curation1.00
- variantCHEK2 Loss-of-functioncivic_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
- 10617473
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| CHEK2 Loss-of-function1 | ||||||||
| (predisposing) | Malignant NeoplasmALIAS | Predisposing | B | Supports Predisposition | 5 | accepted | EID531Heterozygous germline truncating (frameshift) and missense mutations confer highly penetrant predisposition to multiple cancer types including sarcoma, breast cancer, and brain tumors. Screening of in… (full text at CIViC) PMID 10617473 · Bell et al., 1999 · Open in CIViC | civic |