PTEN
CIViC ID: 41 · Entrez: 5728
Aliases: 10q23del,BZS,CWS1,DEC,GLM2,MHAM,MMAC1,PTEN1,TEP1,PTEN,PTENbeta,PTENgama
Description
PTEN is a multi-functional tumor suppressor that is very commonly lost in human cancer. Observed in prostate cancer, glioblastoma, endometrial, lung and breast cancer to varying degrees. Up to 70% of prostate cancer patients have been observed to have loss of expression of the gene. It is a part of the PI3K/AKT/mTOR pathway and mTOR inhibitors have been relatively ineffective in treating patients with PTEN loss. New appoaches using microRNAs are currently being investigated.
Cyan = gene · Slate = variant · Green = drug · Click variant to filter table
Variants (9)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 3382 | C136R | ||
| 213 | Deletion | transcript_ablation | |
| 313 | Expression | ||
| 214 | Loss | loss_of_function_variant | |
| 510 | Mutation | protein_altering_variant | |
| 636 | R130* R130X,ARG130TER,RS121909224 | NM_000314.6:c.388C>T,NP_000305.3:p.Arg130Ter,ENST00000371953.3:c.388C>T,NC_000010.10:g.89692904C>T | stop_gained |
| 838 | R173C ARG173CYS,RS121913293 | NM_000314.6:c.517C>T,NP_000305.3:p.Arg173Cys,ENST00000371953.3:c.517C>T,NC_000010.10:g.89711899C>T | missense_variant |
| 110 | R233* R233X,ARG233TER,RS121909219 | NM_000314.6:c.697C>T,NP_000305.3:p.Arg233Ter,ENST00000371953.3:c.697C>T,NC_000010.10:g.89717672C>T | stop_gained,loss_of_function_variant |
| 605 | V317FS VAL317FS | ENST00000371953.3:c.950_953delTACT,NC_000010.10:g.89720799_89720802del | frameshift_variant |