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Gene CHEK2
Variant P509S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 P509S does not lie within any known functional domains of the Chek2 protein (UniProt.org). P509S results in levels of Kap1 phosphorylation at serine (S)-473 similar to wild-type Chek2 in cell culture (PMID: 31050813, PMID: 34903604) and in vitro assays (PMID: 31050813), but demonstrates intermediate cell proliferation compared to wild-type Chek2 in a yeast assay (PMID: 30851065), and therefore, its effect on Chek2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 P509S

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Transcript NM_007194.4
gDNA chr22:g.28689152G>A
cDNA c.1525C>T
Protein p.P509S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194 chr22:g.28689152G>A c.1525C>T p.P509S RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28689152G>A c.1525C>T p.P509S RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28689152G>A c.1525C>T p.P509S RefSeq GRCh38/hg38

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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 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...
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