PTEN DELETION Detail (hg19) (PTEN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:89,622,870-89,731,687 |
| hg38 | chr10:87,863,113-87,971,930 View the variant detail on this assembly version. |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| prostate cancer | Everolimus | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 23582881 | Detail |
| Her2-receptor positive breast cancer | Everolimus | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 27091708 | Detail |
| Her2-receptor positive breast cancer | Trastuzumab | D |
Predictive
|
Supports
|
Resistance | Somatic | 2 | 17936563 | Detail |
| Her2-receptor positive breast cancer | Trastuzumab | B |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 20813970 | Detail |
| Her2-receptor positive breast cancer | Trastuzumab | B |
Predictive
|
Does Not Support
|
Resistance | Somatic | 3 | 20813970 | Detail |
| Her2-receptor positive breast cancer | PI3K/BET Inhibitor LY294002,Trastuzumab | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 15324695 | Detail |
| ovarian cancer | Cisplatin | D |
Predictive
|
Supports
|
Resistance | Somatic | 2 | 15790433 | Detail |
| stomach carcinoma | Chemotherapy | B |
Predictive
|
Supports
|
Resistance | Somatic | 2 | 15900596 | Detail |
| stomach cancer | Capivasertib,Docetaxel | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 1 | 24088382 | Detail |
| cancer | Capivasertib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 22294718 | Detail |
| breast cancer | Everolimus,MTOR Kinase Inhibitor PP242 | D |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 3 | 21358673 | Detail |
| endometrial cancer | Temsirolimus | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 23674493 | Detail |
| prostate cancer | B |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 4 | 27470558 | Detail | |
| Her2-receptor positive breast cancer | Trastuzumab | B |
Predictive
|
Supports
|
Resistance | Somatic | 2 | 21594665 | Detail |
| breast cancer | Trastuzumab | B |
Predictive
|
Supports
|
Resistance | Somatic | 2 | 21594665 | Detail |
| prostate adenocarcinoma | B |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 4 | 17700571 | Detail | |
| colorectal cancer | Cetuximab | B |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 21163703 | Detail |
| prostate cancer | Temsirolimus | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 11504908 | Detail |
| cancer | Everolimus | B |
Predictive
|
Does Not Support
|
Sensitivity/Response |
N/A
|
3 | 28330462 | Detail |
| Solid Tumor | Carboplatin,Buparlisib,Paclitaxel | B |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 4 | 28281183 | Detail |
| melanoma | Vemurafenib | D |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 24265155 | Detail |
| colorectal cancer | Cetuximab,Panitumumab | B |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 19223544 | Detail |
| prostate cancer | B |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 4 | 17700571 | Detail | |
| bladder carcinoma | Everolimus | B |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 23989949 | Detail |
| breast cancer | Trastuzumab | B |
Predictive
|
Supports
|
Resistance | Somatic | 1 | 24387334 | Detail |
| melanoma | Uprosertib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 24735930 | Detail |
| breast cancer | PI3Kbeta Inhibitor AZD8186 | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 25398829 | Detail |
| cancer | Paclitaxel,Carboplatin,Buparlisib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 25672916 | Detail |
| breast cancer | Alpelisib | D |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 25409150 | Detail |
| gastric adenocarcinoma | Trastuzumab,Lapatinib | B |
Predictive
|
Supports
|
Resistance |
N/A
|
2 | 25300346 | Detail |
| endometrial cancer | Temsirolimus,Ridaforolimus | B |
Predictive
|
Does Not Support
|
Resistance | Somatic | 3 | 24166148 | Detail |
| pancreatic carcinoma | Akt Inhibitor MK2206 | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 22025163 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In a phase II trial on castration-resistant prostate cancer patients, FISH detection of PTEN deletio... | CIViC Evidence | Detail |
| Archival tumor samples from 549 patients from the BOLERO-1 and -3 trials were analyzed for alteratio... | CIViC Evidence | Detail |
| A large-scale RNAi genetic sereen in HER2 overexpressing breast cancer cell line BT-474 was performe... | CIViC Evidence | Detail |
| A subgroup of HER2-positive breast cancer patients that received first-line trastuzumab treatment we... | CIViC Evidence | Detail |
| While some reports indicate PTEN loss is associated with resistance to trastuzumab, in a subgroup of... | CIViC Evidence | Detail |
| Knockdown of PTEN in trastuzumab sensitive HER2 breast cancer BT474 cells induced trastuzumab resist... | CIViC Evidence | Detail |
| A cisplatin resistant derivative of ovarian cancer cell line OVCAR-3 was generated by long term pass... | CIViC Evidence | Detail |
| Cancer and normal tissue samples were taken from 68 gastric cancer patients undergoing surgery witho... | CIViC Evidence | Detail |
| A patient derived mouse xenograft model was established with gastric cancer cells having PTEN loss. ... | CIViC Evidence | Detail |
| In a panel of 182 cell lines (162 with PIK3CA mutation status known) from solid and hematological tu... | CIViC Evidence | Detail |
| In a panel of 31 breast cancer cell lines, 11 had loss of PTEN function. Cells were tested for sensi... | CIViC Evidence | Detail |
| A panel of 24 endometroid endometrial cancer (EEC) cell lines was characterized for mutations and 18... | CIViC Evidence | Detail |
| A meta-analysis of 26 published studies including 8097 prostate cancer patients showed that, compare... | CIViC Evidence | Detail |
| In a retrospective study of 111 HER2-positive metastatic breast cancer patients treated with trastuz... | CIViC Evidence | Detail |
| In a retrospective study of 182 metastatic breast cancer patients of mixed HER2 status treated with ... | CIViC Evidence | Detail |
| In a study of 107 prostate adenocarcinomas, those with either hemi- or homozygous deletions of PTEN ... | CIViC Evidence | Detail |
| In 27 patients with chemotherapy-naive or chemotherapy-refractory metastatic colorectal cancer who w... | CIViC Evidence | Detail |
| In prostate cancer xenographs, PTEN null tumors had a significant decrease in cell size and prolifer... | CIViC Evidence | Detail |
| In a single-arm, open label phase 2 trial in PIK3CA amplified/mutated and/or PTEN loss encompassing ... | CIViC Evidence | Detail |
| No objective responses were observed in the PTEN deficient cohort. Four out of 6 patients with stabl... | CIViC Evidence | Detail |
| An in vitro study of M229 (a human melanoma cell line) endogenously expressing wildtype PTEN and BRA... | CIViC Evidence | Detail |
| In this study, 81 metastatic colorectal cancer patients were treated with anti-epidermal growth fact... | CIViC Evidence | Detail |
| PTEN Loss (by FISH) is associated with poorer prognosis in patients with prostate cancer. | CIViC Evidence | Detail |
| PTEN loss is associated with reduced response to mTOR inhibitors in patients with bladder cancer. | CIViC Evidence | Detail |
| PTEN loss is associated with loss of sensitivity to the HER2-antibody trastuzumab in breast cancer i... | CIViC Evidence | Detail |
| Most BRAF mutant cell lines (mostly V600E) with PTEN mutation or loss of expression were among those... | CIViC Evidence | Detail |
| Breast and prostate cancer cell lines responsive to AZD8186 were enriched for PTEN deficiency. | CIViC Evidence | Detail |
| All three patients with PTEN loss had benefit from adding Buparlisib to carboplatin+paclitaxel thera... | CIViC Evidence | Detail |
| A case report described a responder to PI3K inhibitor BYL719 for a tumor with PIK3CA E542K mutation.... | CIViC Evidence | Detail |
| In 48 patients with advanced gastric cancer, retrospectively analyzed for PTEN expression using IHC,... | CIViC Evidence | Detail |
| 94 endometrial cancer samples of women who had been treated with single agent mTOR inhibitors temsir... | CIViC Evidence | Detail |
| Among 33 patients treated with pan-AKT inhibitor MK-2206 in this phase 1 study, one patient with pan... | CIViC Evidence | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- PTEN
- Genome
- hg19
- Position
- chr10:89,622,870-89,731,687
- Variant Type
- cnv
- Variant (CIViC) (CIViC Variant)
- DELETION
- Transcript 1 (CIViC Variant)
- ENST00000371953.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/213
- Variant (CIViC) (CIViC Variant)
- LOSS
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/214
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