Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.V317fs
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PTEN

NM_000314.8:p.V317fs

Associated Papers

PRIME: an interpretable artificial intelligence model based on liquid biopsy improves prediction of progression risk in non-small cell lung cancer.

Wang Y et al.

Military Medical Research, 2026

41491583 (PubMed )
Supplement: 40779_2025_679_MOESM1_ESM.xlsx › Table_S8

Cancer and disease profiles for PTEN pathogenic variants in Japanese population.

Kanazashi Y et al.

Journal of Human Genetics, 2025

39663357 (PubMed )
Supplement: 10038_2024_1311_MOESM1_ESM.xlsx › Table_S9

Preclinical NCI-MPACT: prospective modeling of the mutation-based NCI-MPACT clinical trial therapeutic strategy in patient-derived xenograft models.

Evrard YA et al.

Frontiers in Oncology, 2025

40458731 (PubMed )
Supplement: Table1.xlsx › Supplementry_Table_1_aMOI

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Expanding Broad Molecular Reflex Testing in Non-Small Cell Lung Cancer to Squamous Histology.

Zacharias M et al.

Cancers, 2024

38473263 (PubMed )
Supplement: cancers-16-00903-s001.zip › TableS2.xlsx › Tabelle

Next-generation sequencing clarified why first-line treatment with osimertinib was ineffective in an autopsied case of EGFR-mutated lung squamous cell carcinoma.

Nishimura T et al.

Thoracic Cancer, 2023

Landscape of potentially targetable receptor tyrosine kinase fusions in diverse cancers by DNA-based profiling.

Wang T et al.

Npj Precision Oncology, 2022

36369474 (PubMed )
Supplement: 41698_2022_325_MOESM1_ESM.pdf

Investigation of Molecular Features Involved in Clinical Responses and Survival in Advanced Endometrial Carcinoma Treated by Hormone Therapy.

Neron M et al.

Journal of Personalized Medicine, 2022

35629078 (PubMed )
Supplement: jpm-12-00655-s001.zip › Supplementary_tables__MC20220419.xlsx › Table_S4

Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.

Serebriiskii IG et al.

Nature Communications, 2022

35338148 (PubMed )
Supplement: 41467_2022_29227_MOESM6_ESM.xlsx › Supplemenraty_Data_3

Comprehensive Characterization of Human Lung Large Cell Carcinoma Identifies Transcriptomic Signatures with Potential Implications in Response to Immunotherapy.

Ramos-Paradas J et al.

Journal of Clinical Medicine, 2022

35329826 (PubMed )
Supplement: jcm-11-01500-s001.zip › J_Ramos-Paradas_et_al.__Table_S2.xlsx › Molecular_alterations_TST170

The molecular characteristics of high-grade gastroenteropancreatic neuroendocrine neoplasms.

Venizelos A et al.

Endocrine-related Cancer, 2021

34647903 (PubMed )
Supplement: supplementary_table_4.xlsx › Targetable_in_NEC

Resistance to androgen receptor signaling inhibition does not necessitate development of neuroendocrine prostate cancer.

Brennen WN et al.

Jci Insight, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Comparable cancer-relevant mutation profiles in synchronous ductal carcinoma in situ and invasive breast cancer.

Bergholtz H et al.

Cancer Reports (hoboken, N.j.), 2020

32671987 (PubMed )
Supplement: CNR2-3-e1248-s003.xlsx › Pure

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s102.xlsx › mCRPC_private

Somatic mutations and copy number variations in breast cancers with heterogeneous HER2 amplification.

Van Bockstal MR et al.

Molecular Oncology, 2020

32058674 (PubMed )
Supplement: MOL2-14-671-s006.xlsx › Supplementary_Table_3

Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

Winn JS et al.

International Journal of Molecular Sciences, 2020

32075053 (PubMed )
Supplement: ijms-21-01290-s001.zip › ijms-703397_SI › Supplementary_Table_3.xlsx › Supplementary_Table_2_final

Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.

Gröschel S et al.

Nature Communications, 2019

30967556 (PubMed )
Supplement: 41467_2019_9633_MOESM3_ESM.xlsx › Indels

Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Miller AM et al.

Nature, 2019

30675060 (PubMed )
Supplement: NIHMS1516901-supplement-Sup_Table_5.xlsx › Matched_pair_analysis

Human glioblastoma arises from subventricular zone cells with low-level driver mutations.

Lee JH et al.

Nature, 2018

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Kim YS et al.

Bmc Urology, 2018

30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1

Racial Disparities in the Molecular Landscape of Cancer.

Heath EI et al.

Anticancer Research, 2018

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Lee JY et al.

Translational Oncology, 2018

29161613 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Endometrial Cancers Harboring Mutated Fibroblast Growth Factor Receptor 2 Protein Are Successfully Treated With a New Small Tyrosine Kinase Inhibitor in an Orthotopic Mouse Model.

Taurin S et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2018

Genomic analysis of head and neck cancer cases from two high incidence regions.

Perdomo S et al.

Plos One, 2018

29377909 (PubMed )
Supplement: pone.0191701.s007.xlsx › S3.Somatic_Mutations_SNVs_

Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors.

Ramkissoon SH et al.

Neuro-oncology, 2017

Overactive mTOR signaling leads to endometrial hyperplasia in aged women and mice.

Bajwa P et al.

Oncotarget, 2017

Functional characterization of somatic mutations in cancer using network-based inference of protein activity.

Alvarez MJ et al.

Nature Genetics, 2016

27322546 (PubMed )
Supplement: NIHMS789775-supplement-1.pdf

Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Lee JY et al.

Oncotarget, 2015

26527317 (PubMed )
Supplement: oncotarget-06-43731-s002.xlsx › Table_S1

Serial Next-Generation Sequencing of Circulating Cell-Free DNA Evaluating Tumor Clone Response To Molecularly Targeted Drug Administration.

Frenel JS et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015

Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Park K et al.

Oncotarget, 2015

26009992 (PubMed )
Supplement: oncotarget-06-24499-s002.xlsx › Supplementary_Table_1

Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.

Presneau N et al.

The Journal of Pathology. Clinical Research, 2015

27499898 (PubMed )
Supplement: CJP2-1-113-s004.xlsx › Sheet1

PTEN inhibits PREX2-catalyzed activation of RAC1 to restrain tumor cell invasion.

Mense SM et al.

Science Signaling, 2015

Bioinformatics analysis of thousands of TCGA tumors to determine the involvement of epigenetic regulators in human cancer.

Gnad F et al.

Bmc Genomics, 2015

26110843 (PubMed )
Supplement: 1471-2164-16-S8-S5-S7.xls › RecurrentMutations

Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).

Ricketts CJ et al.

Plos One, 2015

26484545 (PubMed )
Supplement: pone.0140257.s003.xlsx › Sheet1

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE et al.

The Journal of Molecular Diagnostics : Jmd, 2014

Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks.

Zhao H et al.

Elife, 2014

25085081 (PubMed )
Supplement: elife02725s005.xlsx › Validation_results

AKT inhibitors promote cell death in cervical cancer through disruption of mTOR signaling and glucose uptake.

Rashmi R et al.

Plos One, 2014

High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Kim S et al.

Plos One, 2014

25372287 (PubMed )
Supplement: pone.0111693.s003.xls › ion_ampliseq_cancer_panel_mutat

Predicting everolimus treatment efficacy in patients with advanced endometrial carcinoma: a GINECO group study.

Trédan O et al.

Targeted Oncology, 2013

PI3K pathway dependencies in endometrioid endometrial cancer cell lines.

Weigelt B et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013

Activity of the fibroblast growth factor receptor inhibitors dovitinib (TKI258) and NVP-BGJ398 in human endometrial cancer cells.

Konecny GE et al.

Molecular Cancer Therapeutics, 2013

Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma.

Deshpande V et al.

Bmc Cancer, 2011

21303542 (PubMed )
Supplement: 1471-2407-11-60-S1.XLS › Table_1_OM3_core_sites

PTEN deficiency in endometrioid endometrial adenocarcinomas predicts sensitivity to PARP inhibitors.

Dedes KJ et al.

Science Translational Medicine, 2010

Profiling critical cancer gene mutations in clinical tumor samples.

MacConaill LE et al.

Plos One, 2009

19924296 (PubMed )
Supplement: pone.0007887.s002.xls › Table_S1_
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."