Gene Variant Detail

Transcript	gDNA	cDNA	Protein	Source Database	Genome Build
NM_000314.8	chr10:g.87933131T>G	c.372T>G	p.C124W	RefSeq	GRCh38/hg38
NM_000314.6	chr10:g.87933131T>G	c.372T>G	p.C124W	RefSeq	GRCh38/hg38

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Molecular Profile	Indication/Tumor Type	Response Type	Therapy Name	Approval Status	Evidence Type	Efficacy Evidence	References
PTEN mutant	endometrial cancer	sensitive	Apitolisib	Phase II	Actionable	In a Phase II trial, Apitolisib (GDC-0980) was poorly tolerated, but demonstrated efficacy in endometrial cancer patients harboring mutations in PIK3CA, PTEN, or AKT1 (J Clin Oncol 32:5s, 2014 (suppl; abstr 5513)).	detail...
PTEN mutant	glioblastoma	no benefit	Buparlisib + Capmatinib	Phase Ib/II	Actionable	In a Phase Ib/II trial, combination of Buparlisib (BKM120) and Tabrecta (capmatinib) did not reach target exposure due to potential drug-drug interaction, and demonstrated minimal activity in patients with glioblastoma harboring PTEN alterations including deletion, mutation, or negative protein expression, therefore, Phase II of the trial was not initiated (PMID: 31776899; NCT01870726).	31776899
PTEN mutant	endometrial cancer	sensitive	Everolimus	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Afinitor (everolimus) inhibited growth of endometrial cancer cells harboring a PTEN nonsense mutation in culture and in xenograft models (PMID: 22662154).	22662154
PTEN mutant	head and neck squamous cell carcinoma	resistant	Taselisib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, head and neck squamous cell carcinoma cell lines and cell line xenograft models with PTEN alterations were resistant to the apoptotic effects of Taselisib (GDC-0032) (PMID: 26589432).	26589432
PTEN mutant	endometrial cancer	resistant	AZD6482	Preclinical	Actionable	In a preclinical study, endometrioid endometrial cancer cell lines harboring PTEN mutations demonstrated resistance to AZD6482 induced growth inhibition in culture (PMID: 23674493).	23674493
PTEN mutant	breast cancer	not applicable	N/A	Guideline	Risk Factor	Germline PTEN mutations result in Cowden syndrome, which is associated with increased risk of developing breast cancer (NCCN.org).	detail...
PTEN mutant	endometrial cancer	resistant	A66	Preclinical	Actionable	In a preclinical study, endometrioid endometrial cancer cell lines harboring PTEN mutations demonstrated resistance to A66 induced growth inhibition in culture (PMID: 23674493).	23674493
PTEN mutant	lung adenocarcinoma	no benefit	Capivasertib	Case Reports/Case Series	Actionable	In a Phase II trial (NLMT), Truqap (capivasertib) treatment did not result in a confirmed response (0/8) or durable clinical benefit (0/8) in patients with lung adenocarcinoma harboring mutations in PIK3CA, PTEN, or AKT, thus the cohort was closed due to futility (PMID: 32669708, NCT02664935).	32669708
PTEN mutant	hepatocellular carcinoma	decreased response	Sorafenib	Clinical Study - Cohort	Actionable	In a clinical case study, Nexavar (sorafenib) treatment of patients with hepatocellular carcinoma harboring Mtor pathway mutations in PIK3CA, PTEN, TSC2, or TSC1 (n=12), resulted in a lower disease control rate (8.3% vs. 40.2%), shorter progression-free survival (1.9 months vs. 5.3 months) and shorter overall survival (10.4 months vs. 17.9 months) compared to patients without mutations in this pathway (n=67) (PMID: 30373752; NCT01775072).	30373752
PTEN mutant	uterine cancer	sensitive	GSK2256098	Preclinical	Actionable	In a preclinical study, uterine cancer cells harboring a PTEN mutation demonstrated sensitivity to GSK2256098, resulting in inhibition of Ptk2 (Fak) phosphorylation, decreased tumor growth, and apoptosis both in culture and in mouse models (PMID: 25833835).	25833835
PTEN mutant	endometrial cancer	sensitive	A66 + AZD6482	Preclinical	Actionable	In a preclinical study, A66 and AZD6482 combination treatment inhibited viability of endometrioid endometrial cancer cell lines harboring PTEN mutations in culture (PMID: 23674493).	23674493
PTEN mutant	breast cancer	sensitive	CUDC-907	Preclinical - Cell culture	Actionable	In a preclinical study, CUDC-907 inhibited growth of breast cancer cells lines harboring Pten mutations and/or deletions (PMID: 22693356).	22693356
PTEN mutant	skin melanoma	not applicable	N/A	Guideline	Risk Factor	Germline PTEN mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org).	detail...
PTEN mutant	endometrial cancer	sensitive	A66 + GSK2636771	Preclinical	Actionable	In a preclinical study, A66 and GSK2636771 combination treatment inhibited viability of endometrioid endometrial cancer cell lines harboring PTEN mutations in culture (PMID: 23674493).	23674493
PTEN mutant	endometrial cancer	no benefit	Temsirolimus	Phase II	Actionable	In a retrospective study of a Phase II trial, mutation status of PTEN was not associated with progression-free survival or response rate in advanced endometrial cancer patients treated with Torisel (temsirolimus) (PMID: 27016228).	27016228
PTEN mutant	breast cancer	sensitive	Sapanisertib	Preclinical	Actionable	In a preclinical study, Sapanisertib (MLN0128) induced apoptosis and inhibited MTORC1 signaling in breast cancer cells harboring a PTEN mutation (PMID: 25261369).	25261369
PTEN mutant	gastrointestinal system cancer	decreased response	Pembrolizumab	Clinical Study - Cohort	Actionable	In a retrospective analysis, patients with MSI high, dMMR gastrointestinal tumors including gastric (n=18), colorectal (n=17), cholangiocarcinoma (n=5), small intestine (n=2), pancreatic (n=2), and duodenal cancer (n=1) harboring PTEN mutations demonstrated a decreased objective response rate (21.4 vs 54.8%), overall survival (15.2 vs 25.7 mo), and progression-free survival (4.3 vs 15.6 mo) compared to PTEN-wild-type patients when treated with Keytruda (pembrolizumab) or Opdivo (nivolumab) (PMID: 33926917).	33926917
PTEN mutant	endometrial cancer	resistant	TGX-221	Preclinical	Actionable	In a preclinical study, endometrioid endometrial cancer cell lines harboring PTEN mutations demonstrated resistance to TGX-221 induced growth inhibition in culture (PMID: 23674493).	23674493
PTEN mutant	endometrial cancer	sensitive	Dactolisib	Preclinical	Actionable	In a preclinical study, BEZ235 decreased growth of endometrial cancer cells harboring a PTEN nonsense mutation in culture and in xenograft models (PMID: 22662154).	22662154
PTEN mutant	melanoma	sensitive	BI-69A11	Preclinical - Cell line xenograft	Actionable	In a preclinical study, BI-69A11 resulted in antitumor activity in a melanoma cell line harboring a PTEN mutation, including induction of cell death in culture, and in xenograft models, tumor growth inhibition and tumor regression (PMID: 19175524).	19175524
PTEN mutant	gastrointestinal system cancer	decreased response	Nivolumab	Clinical Study - Cohort	Actionable	In a retrospective analysis, patients with MSI high, dMMR gastrointestinal tumors including gastric (n=18), colorectal (n=17), cholangiocarcinoma (n=5), small intestine (n=2), pancreatic (n=2), and duodenal cancer (n=1) harboring PTEN mutations demonstrated a decreased objective response rate (21.4 vs 54.8%), overall survival (15.2 vs 25.7 mo), and progression-free survival (4.3 vs 15.6 mo) compared to PTEN-wild-type patients when treated with Keytruda (pembrolizumab) or Opdivo (nivolumab) (PMID: 33926917).	33926917
PTEN mutant	endometrial cancer	resistant	GSK2636771	Preclinical	Actionable	In a preclinical study, endometrioid endometrial cancer cell lines harboring PTEN mutations demonstrated resistance to GSK2636771 induced growth inhibition in culture (PMID: 23674493).	23674493
PTEN mutant	uterine cancer	sensitive	GSK2256098 + Paclitaxel	Preclinical	Actionable	In a preclinical study, uterine cancer cells harboring a PTEN mutation were more sensitive to the combination of GSK2256098 and Taxol (paclitaxel) than uterine cancer cells wild-type for PTEN, resulting in decreased tumor growth in culture and in mouse models (PMID: 25833835).	25833835
PTEN mutant	uterine cancer	sensitive	GSK2256098 + Topotecan	Preclinical	Actionable	In a preclinical study, uterine cancer cells harboring a PTEN mutation were more sensitive to the combination of GSK2256098 and Hycamtin (topotecan) than uterine cancer cells wild-type for PTEN, resulting in decreased tumor growth in culture and in mouse models (PMID: 25833835).	25833835
PTEN mutant	breast cancer	predicted - sensitive	MS417 + Pictilisib	Preclinical - Cell culture	Actionable	In a preclinical study, Pictilisib (GDC-0941) and MS417 in combination resulted in improved growth inhibition and increased cell death compared to either agent alone in a PTEN-mutant breast cancer cell line in culture (PMID: 26058079).	26058079

Gene	PTEN
Variant	C124W
Impact List	missense
Protein Effect	unknown
Gene Variant Descriptions	PTEN C124W lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C124W has been identified in the scientific literature (PMID: 29706350), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths	PTEN mutant PTEN C124W

Gene Variant Detail

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