Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.Y16*
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PTEN

NM_000314.8:p.Y16*

Associated Papers

Clonal Evolution and Lineage Switch from T-Cell Acute Lymphoblastic Leukemia to Acute Myeloid Leukemia in Therapy-Resistant PICALM::MLLT10 Leukemia.

Kawamura M et al.

Ejhaem, 2026

Complex Management of High-Flow Gastrointestinal Arteriovenous Malformation With Chronic Portomesenteric Thrombosis in PTEN Hamartoma Tumor Syndrome.

De Looze K et al.

Acg Case Reports Journal, 2026

Complementary modes of resistance to EGFR TKI in lung adenocarcinoma through MAPK activation and cellular plasticity.

Zatzman M et al.

Biorxiv : the Preprint Server for Biology, 2025

40654861 (PubMed )
Supplement: media-1.xlsx › Table_S1_-_Cohort_Metadata

PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.

DeSpenza T et al.

Nature Neuroscience, 2025

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_after_120d_TISF

Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.

Varachev V et al.

International Journal of Molecular Sciences, 2024

39684714 (PubMed )
Supplement: ijms-25-13004-s001.zip › Table_S1._Examples_of_somatic_genetic_alterations_in_glioma_samples.xlsx › ____1

Phenotypic Variability of Cowden Syndrome Within a Single Family: Impact on Diagnosis, Management and Genetic Counselling.

Ilic N et al.

Balkan Journal of Medical Genetics : Bjmg, 2024

Identification of cancer driver mutations in liquid-based cytology samples for the screening of endometrial diseases.

Matsuura M et al.

Bjc Reports, 2023

39516270 (PubMed )
Supplement: 44276_2023_20_MOESM3_ESM.xlsx › Table_S5

Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants.

Desjardins C et al.

Journal of Medical Genetics, 2023

Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.

Sheng Z et al.

Frontiers in Oncology, 2023

37920153 (PubMed )
Supplement: Table_1.xlsx › Table_S4.__Targetable_variants

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_mutations

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › PTEN

Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Liu B et al.

Cancer Medicine, 2022

35393784 (PubMed )
Supplement: CAM4-11-2767-s001.xlsx › Table_S2

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

Genomic profile of advanced breast cancer in circulating tumour DNA.

Kingston B et al.

Nature Communications, 2021

33893289 (PubMed )
Supplement: 41467_2021_22605_MOESM4_ESM.xlsx › SNVs_Indels

Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.

Choi SW et al.

Cell Death & Disease, 2021

33828082 (PubMed )
Supplement: 41419_2021_3657_MOESM15_ESM.pdf

Targeting FGFR in non-small cell lung cancer: implications from the landscape of clinically actionable aberrations of FGFR kinases.

Zhou Z et al.

Cancer Biology & Medicine, 2021

Identification of the Prognostic Signatures of Glioma With Different PTEN Status.

Zhang P et al.

Frontiers in Oncology, 2021

34336645 (PubMed )
Supplement: DataSheet_2.zip › Supplementary_Table_2.xlsx › TCGA_

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.

Jin SC et al.

Nature Medicine, 2020

Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Prieto-Potin I et al.

Peerj, 2020

33083132 (PubMed )
Supplement: peerj-08-10069-s009.xlsx › Table_S4

Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Yi Z et al.

Npj Breast Cancer, 2020

33145402 (PubMed )
Supplement: 41523_2020_201_MOESM2_ESM.xlsx › Supplementary_Table_1

Sequencing and curation strategies for identifying candidate glioblastoma treatments.

Frank MO et al.

Bmc Medical Genomics, 2019

Somatic mutations in early onset luminal breast cancer.

Encinas G et al.

Oncotarget, 2018

29854292 (PubMed )
Supplement: oncotarget-09-22460-s002.xlsx › Supplementary_table_10

Site-Specific Genomic Alterations in a Well-Differentiated Pancreatic Neuroendocrine Tumor With High-Grade Progression.

Martin DR et al.

Pancreas, 2018

Comprehensive Molecular Profiling of Olfactory Neuroblastoma Identifies Potentially Targetable FGFR3 Amplifications.

Lazo de la Vega L et al.

Molecular Cancer Research : Mcr, 2017

Genomic Analysis of Uterine Lavage Fluid Detects Early Endometrial Cancers and Reveals a Prevalent Landscape of Driver Mutations in Women without Histopathologic Evidence of Cancer: A Prospective Cross-Sectional Study.

Nair N et al.

Plos Medicine, 2016

Clinical Genotyping of Non-Small Cell Lung Cancers Using Targeted Next-Generation Sequencing: Utility of Identifying Rare and Co-mutations in Oncogenic Driver Genes.

Tafe LJ et al.

Neoplasia (new York, N.y.), 2016

Circulating Cell-Free Tumor DNA Analysis of 50 Genes by Next-Generation Sequencing in the Prospective MOSCATO Trial.

Jovelet C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

26758560 (PubMed )
Supplement: 10780432ccr152470-sup-156650_1_supp_3254814_ny79rd.xlsx › AF_T-P

Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

Nik-Zainal S et al.

Nature, 2016

27135926 (PubMed )
Supplement: NIHMS68344-supplement-Supplementary_Tables_1-21.zip › nature17676-s3 › Supplementary_Table_14.Driver.Events.By.Mutation.Type.01052015.v2.xlsx › Subs.indels

High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.

Masaki T et al.

Pigment Cell & Melanoma Research, 2014

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

Pilarski R et al.

Journal of Medical Genetics, 2011

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.

Wang Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.

Zhou XP et al.

American Journal of Human Genetics, 2003

Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer.

Figer A et al.

Clinical Genetics, 2002

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.

Nasrallah MP et al.

Academic Pathology, 0

31206012 (PubMed )
Supplement: Supplementary_Table_1.xlsx › Sheet1
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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."