Publication
Homozygous inactivation of CHEK2 is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
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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 R474C c.1420C>Tcivic_curation1.00
Curated evidence
Evidence citing this paper (2)
- 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
- 27900359
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| CHEK2 R474C c.1420C>T2 | ||||||||
| (predisposing) | Malignant NeoplasmALIAS | Predisposing | C | Supports Predisposition | 3 | accepted | EID7962Siblings (brother and sister) each were diagnosed with multiple primary lung cancer at the age of 60, along with various other cancers in their lifetimes. Homozygosity mapping revealed their parents (… (full text at CIViC) PMID 27900359 · Kukita et al., 2016 · Open in CIViC | civic |
| (functional) | —UNRESOLVED | Functional | D | Supports Loss Of Function | 3 | submitted | EID10064NIH3T3 cells were transfected with mutant (R474C) or wild-type (WT) CHEK2. Expression and phosphorylation of CHEK2 was measured following UV light exposure to include DNA damage. The mutant was poorly… (full text at CIViC) PMID 27900359 · Kukita et al., 2016 · Open in CIViC | civic |