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Gene | PTEN |
Variant | L108R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN L108R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L108R results in decreased Pten expression and increased Akt phosphorylation in cultured cells (PMID: 10582703) and reduced phosphatase activity in a yeast assay (PMID: 29706350). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN L108R |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933082T>G |
cDNA | c.323T>G |
Protein | p.L108R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87933082T>G | c.323T>G | p.L108R | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933082T>G | c.323T>G | p.L108R | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933082T>G | c.323T>G | p.L108R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PTEN L108R | breast cancer | sensitive | Miransertib | Preclinical - Cell culture | Actionable | In a preclinical study, Miransertib (ARQ092) inhibited proliferation of a breast cancer cell line harboring PTEN L108R in culture (PMID: 30858154). | 30858154 |
PTEN L108R | breast cancer | sensitive | Miransertib | Preclinical - Cell culture | Actionable | In a preclinical study, Miransertib (ARQ092) treatment increased cell death and inhibited proliferation of a breast cancer cell line harboring PTEN L108R in culture (PMID: 32439931). | 32439931 |
PTEN L108R | breast cancer | sensitive | Capivasertib | Preclinical - Cell culture | Actionable | In a preclinical study, Truqap (capivasertib) inhibited proliferation of a breast cancer cell line harboring PTEN L108R in culture (PMID: 30858154). | 30858154 |
PTEN L108R | breast cancer | sensitive | Ipatasertib | Preclinical - Cell culture | Actionable | In a preclinical study, Ipatasertib (GDC-0068) inhibited proliferation of a breast cancer cell line harboring PTEN L108R in culture (PMID: 30858154). | 30858154 |
PTEN L108R | breast cancer | sensitive | Ipatasertib | Preclinical - Cell culture | Actionable | In a preclinical study, Ipatasertib (GDC-0068) treatment increased cell death and inhibited proliferation of a breast cancer cell line harboring PTEN L108R in culture (PMID: 32439931). | 32439931 |
PTEN L108R | breast cancer | sensitive | MK2206 | Preclinical - Cell culture | Actionable | In a preclinical study, MK-2206 inhibited proliferation of a breast cancer cell line harboring PTEN L108R in culture (PMID: 30858154). | 30858154 |
PTEN L108R | breast cancer | sensitive | MK2206 | Preclinical - Cell culture | Actionable | In a preclinical study, MK2206 treatment increased cell death and inhibited proliferation of a breast cancer cell line harboring PTEN L108R in culture (PMID: 32439931). | 32439931 |
PTEN L108R | breast cancer | sensitive | BAY1125976 | Preclinical - Cell culture | Actionable | In a preclinical study, BAY1125976 inhibited proliferation of a breast cancer cell line harboring PTEN L108R in culture (PMID: 27699769). | 27699769 |
PTEN L108R | breast cancer | sensitive | MEN1611 | Preclinical - Cell culture | Actionable | In a preclinical study, MEN1611 (CH5132799) inhibited viability in a breast cancer cell line harboring PTEN L108R in culture (PMID: 36913051). | 36913051 |
PTEN L108R | breast cancer | predicted - sensitive | GSK690693 | Preclinical - Cell culture | Actionable | In a preclinical study, GSK690693 treatment did not increase cell death but inhibited proliferation of a breast cancer cell line harboring PTEN L108R in culture (PMID: 32439931). | 32439931 |
PTEN L108R | breast cancer | sensitive | ARQ 751 | Preclinical - Cell culture | Actionable | In a preclinical study, ARQ 751 treatment increased cell death and inhibited proliferation of a breast cancer cell line harboring PTEN L108R in culture (PMID: 32439931). | 32439931 |
PTEN L108R | breast cancer | sensitive | DHM25 | Preclinical - Cell culture | Actionable | In a preclinical study, DHM25 increased cell death in a breast cancer cell line harboring PTEN L108R in culture (PMID: 26237138). | 26237138 |
PTEN L108R | breast cancer | sensitive | Borussertib | Preclinical - Cell culture | Actionable | In a preclinical study, borussertib inhibited AKT signaling and proliferation and increased apoptosis in a breast cancer cell line harboring PTEN L108R in culture (PMID: 30858154). | 30858154 |