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Gene CHEK2
Variant R180C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 R180C does not lie within any known functional domains of the Chek2 protein (UniProt.org). The functional effect of R180C is conflicting, as it results in cell proliferation similar to wild-type Chek2 in a yeast assay in one study (PMID: 30851065), however, results in intermediate cell proliferation relative to wild-type Chek2 in another study (PMID: 22419737), and similar Kap1 phosphorylation at serine (S)-473 in cell culture and in vitro assays (PMID: 31050813, PMID: 34903604), and therefore, its effect on Chek2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 R180C

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Transcript NM_007194.4
gDNA chr22:g.28725031G>A
cDNA c.538C>T
Protein p.R180C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529841 chr22:g.28725276_28725278delTCGinsACA c.538_540delCGAinsTGT p.R180C RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725031G>A c.538C>T p.R180C RefSeq GRCh38/hg38
NM_007194 chr22:g.28725031G>A c.538C>T p.R180C RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725031G>A c.538C>T p.R180C RefSeq GRCh38/hg38
NM_145862 chr22:g.28725031G>A c.538C>T p.R180C RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28725276_28725278delCGAinsTGT c.538_540delCGAinsTGT p.R180C RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725031G>A c.538C>T p.R180C RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28725276_28725278delCGAinsTGT c.538_540delCGAinsTGT p.R180C RefSeq GRCh38/hg38
NM_001005735 chr22:g.28725276_28725278delTCGinsACA c.538_540delCGAinsTGT p.R180C RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28725276_28725278delCGAinsTGT c.538_540delCGAinsTGT p.R180C RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28725276_28725278delCGAinsTGT c.538_540delCGAinsTGT p.R180C RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725031G>A c.538C>T p.R180C 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 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
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...