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Gene | PTEN |
Variant | R130Q |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN R130Q lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R130Q demonstrates Pten protein stability similar to wild-type protein, however, results in a partial loss of ability to rescue spheroid formation (PMID: 32366478), loss of phosphatase activity (PMID: 10866302), and increased transformation ability in two different cell lines in culture (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN R130Q |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933148G>A |
cDNA | c.389G>A |
Protein | p.R130Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87933148G>A | c.389G>A | p.R130Q | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933148G>A | c.389G>A | p.R130Q | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933148G>A | c.389G>A | p.R130Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs | endometrial cancer | sensitive | Infigratinib + Pictilisib | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Truseltiq (infigratinib) and Pictilisib (GDC-0941) resulted in a synergistic effect, demonstrating inhibition of cell proliferation, decreased colony formation, and cell death in an endometrial cancer cell line harboring FGFR2 N550K, PIK3CA I20M and P539R, and PTEN R130Q and T321fs*23 in culture (PMID: 28119489). | 28119489 |
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs | endometrial cancer | sensitive | Buparlisib + Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Truseltiq (infigratinib) and Buparlisib (BKM120) resulted in a synergistic effect, demonstrating inhibition of cell proliferation, decreased colony formation, and cell death in an endometrial cancer cell line harboring FGFR2 N550K, PIK3CA I20M and P539R, and PTEN R130Q and T321fs*23 in culture (PMID: 28119489). | 28119489 |
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs | endometrial cancer | sensitive | Alpelisib + Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Truseltiq (infigratinib) and Alpelisib (BYL719) resulted in a synergistic effect, demonstrating inhibition of cell proliferation and induced cell death in an endometrial cancer cell line harboring FGFR2 N550K, PIK3CA I20M and P539R, and PTEN R130Q and T321fs*23 in culture (PMID: 28119489). | 28119489 |