Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.D24H
Back to variants list

PTEN

NM_000314.8:p.D24H

Associated Papers

A First-in-Human Study of ATM Inhibitor Lartesertib as Monotherapy in Patients with Advanced Solid Tumors.

Siu LL et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

40875525 (PubMed )
Supplement: ccr-25-1648_supplementary_table_s5_suppts5.xlsx › Sheet1

Genomic landscape of hormone therapy-resistant HR-positive, HER2-negative breast cancer.

Chaubal R et al.

Breast Cancer Research and Treatment, 2025

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.

Kamdee K et al.

Scientific Reports, 2025

A microglia clonal inflammatory disorder in Alzheimer's disease.

Vicario R et al.

Elife, 2025

40085681 (PubMed )
Supplement: elife-96519-supp3.xlsx › ALL-SNV

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_12

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3B_EC_data

Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.

Serebriiskii IG et al.

Npj Genomic Medicine, 2023

38001126 (PubMed )
Supplement: 41525_2023_384_MOESM1_ESM.xlsx › Table_S6

The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.

Tsantikidi A et al.

Diagnostics (basel, Switzerland), 2023

37761329 (PubMed )
Supplement: diagnostics-13-02962-s001.zip › supplementary__Table_S2.xlsx › Table_S2_Samples_analyzed

Mesonephric-like Adenocarcinoma of the Uterine Corpus: Genomic and Immunohistochemical Profiling with Comprehensive Clinicopathological Analysis of 17 Consecutive Cases from a Single Institution.

Koh HH et al.

Biomedicines, 2023

A Gene Panel Associated With Abemaciclib Utility in ESR1-Mutated Breast Cancer After Prior Cyclin-Dependent Kinase 4/6-Inhibitor Progression.

Brett JO et al.

Jco Precision Oncology, 2023

Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Nguyen Hoang VA et al.

Molecular Oncology, 2023

36495126 (PubMed )
Supplement: MOL2-17-598-s002.xlsx › SupTable_S5_Variants_in_FFPE

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

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

Tumour mutational burden predicts resistance to EGFR/BRAF blockade in BRAF-mutated microsatellite stable metastatic colorectal cancer.

Randon G et al.

European Journal of Cancer (oxford, England : 1990), 2022

Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Zhang Y et al.

Cell Reports, 2021

34788622 (PubMed )
Supplement: NIHMS1757901-supplement-2.xlsx › SNVs_indels

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Saleh S et al.

Clinical Genetics, 2021

Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.

Lim Y et al.

Scientific Reports, 2021

34381078 (PubMed )
Supplement: 41598_2021_95345_MOESM4_ESM.xlsx › Suppl._Table_3

Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Tsui DWY et al.

Genome Medicine, 2021

34059130 (PubMed )
Supplement: 13073_2021_898_MOESM3_ESM.xlsx › SuppTable1

Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma.

Ülgen E et al.

Bmc Medical Genomics, 2021

33622343 (PubMed )
Supplement: 12920_2021_904_MOESM1_ESM.pdf

Homologous Recombination Repair Mechanisms in Serous Endometrial Cancer.

Jönsson JM et al.

Cancers, 2021

33445465 (PubMed )
Supplement: cancers-13-00254-s001.zip › cancers-1045961-supplementary_R1_-_Copy › Supplementary_Table_S2.pdf

Distinguishing between PTEN clinical phenotypes through mutation analysis.

Portelli S et al.

Computational and Structural Biotechnology Journal, 2021

34141133 (PubMed )
Supplement: mmc1.docx

Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns.

Mateo L et al.

Genome Medicine, 2020

32907621 (PubMed )
Supplement: 13073_2020_774_MOESM1_ESM.zip › SupplementaryTables › TableS2.xlsx › Biomarkers

Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.

Reijnen C et al.

International Journal of Cancer, 2020

32022266 (PubMed )
Supplement: IJC-147-478-s001.pdf

Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.

Palumbo E et al.

Journal of Biomolecular Structure & Dynamics, 2020

31232187 (PubMed )
Supplement: supplement_1.zip › Supplement_S4_mutants_nochange.xlsx › Mutants_no_change

Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups.

Egan C et al.

Haematologica, 2020

Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.

Li K et al.

Frontiers in Genetics, 2020

33408741 (PubMed )
Supplement: Table_3.XLSX › Sheet2

Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.

Li H et al.

Frontiers in Oncology, 2020

33747896 (PubMed )
Supplement: Table_1.xlsx › Table_S2

Identification of diverse activating mutations of the RAS-MAPK pathway in histiocytic sarcoma.

Shanmugam V et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

A pathogenic role for germline PTEN variants which accumulate into the nucleus.

Mingo J et al.

European Journal of Human Genetics : Ejhg, 2018

High-Throughput Genomic Profiling of Adult Solid Tumors Reveals Novel Insights into Cancer Pathogenesis.

Hartmaier RJ et al.

Cancer Research, 2017

Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.

de Leng WW et al.

Plos One, 2016

26919633 (PubMed )
Supplement: pone.0149405.s010.xlsx › testset

Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.

Li C et al.

Scientific Reports, 2015

26503331 (PubMed )
Supplement: srep14237-s6.xls › Sheet1

Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

Wong SQ et al.

British Journal of Cancer, 2015

25742471 (PubMed )
Supplement: bjc201580x7.xls › Supp_Table_3

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Spinelli L et al.

Journal of Medical Genetics, 2015

25527629 (PubMed )
Supplement: jmedgenet-2014-102803-s1.pdf

Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

Ngeow J et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2014

Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer.

Shuch B et al.

The Journal of Urology, 2013

Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome.

Mester JL et al.

Urology, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."