CHEK2 Loss-of-function

CI-VAR-00002523Explore in graph →CIViC 230

Curated evidence

Evidence by cancer (1 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–1 of 1 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Malignant Neoplasm1
CHEK2 Loss-of-function	(predisposing)	Predisposing	B	Supports Predisposition	5	accepted	EID531 Heterozygous 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

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.