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Gene CHEK2
Variant R521Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 R521Q does not lie within any known functional domains of the Chek2 protein (UniProt.org). R521Q results in impaired nuclear localization (PMID: 37449874), but has not been fully biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 R521Q

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Transcript NM_007194.4
gDNA chr22:g.28687967C>T
cDNA c.1562G>A
Protein p.R521Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28687967C>T c.1562G>A p.R521Q RefSeq GRCh38/hg38
XM_047441107.1 chr22:g.28687924_28687925delGCinsAA c.1562_1563delGCinsAA p.R521Q RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28687973C>T c.1562G>A p.R521Q RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28687967C>T c.1562G>A p.R521Q RefSeq GRCh38/hg38
NM_007194 chr22:g.28687967C>T c.1562G>A p.R521Q RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CHEK2 mutant breast cancer not applicable N/A Guideline Risk Factor Germline CHEK2 mutations are associated with increased risk of developing breast cancer (NCCN.org). detail...
CHEK2 mutant prostate cancer not applicable N/A Guideline Risk Factor Germline CHEK2 mutations are associated with increased risk of developing prostate cancer (NCCN.org). detail...
CHEK2 mutant breast cancer no benefit Olaparib Case Reports/Case Series Actionable In a Phase II trial (TBCRC 048), Lynparza (olaparib) treatment did not result in an objective response in 7 patients with metastatic breast cancer harboring only germline mutations in CHEK2 (PMID: 33119476; NCT03344965). 33119476
CHEK2 mutant Advanced Solid Tumor no benefit Olaparib Phase II Actionable In a Phase II trial, Lynparza (olaparib) treatment did not demonstrate clinical activity in patients with advanced solid tumors harboring ATM (n=13) or CHEK2 (n=14) mutations (Ann Oncol (2023) 34 (suppl_2): S242; NCT03967938). detail...