Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.L112P
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PTEN

NM_000314.8:p.L112P

Associated Papers

Phylogenetic analysis of paired breast carcinomas identifies genetic events associated with clonal recurrence and invasive progression.

Kader T et al.

The Journal of Pathology, 2026

41165701 (PubMed )
Supplement: PATH-268-1-s001.zip › path6461-sup-0001-SuppMatMethFiguresS1-S18TablesS1-S9 › path6461-sup-0003-TableS4.xlsx › Variants_recurrence_cases

Integrative sWGS: A New Paradigm for HRD Detection in Ovarian Cancer.

Jinga DC et al.

International Journal of Molecular Sciences, 2025

41465396 (PubMed )
Supplement: ijms-26-11968-s001.zip › File_S1.xlsx › Sheet1

Improving Global Access to Genomic Profiling in Rare Pediatric Cancers.

Farouk Sait S et al.

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

PIK3CB Inhibitor GSK2636771 in Cancers With PTEN Mutation/Deletion or Loss of PTEN Protein Expression: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols N and P.

Janku F et al.

Jco Precision Oncology, 2025

40865033 (PubMed )
Supplement: protocol1_PO-25-00265.pdf

Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.

Lucas CG et al.

Neuro-oncology, 2025

39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5

Comprehensive computational analysis of deleterious nsSNPs in PTEN gene for structural and functional insights.

Sharma D et al.

Molecular Biology Research Communications, 2025

Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.

Yao J et al.

Frontiers in Immunology, 2025

40519936 (PubMed )
Supplement: Table1.xlsx › SNV

Classification of PTEN germline non-truncating variants: a new approach to interpretation.

Margot H et al.

Journal of Medical Genetics, 2024

Similar genetic profile in early and late stage urothelial tract cancer.

Stormoen DR et al.

Journal of Cancer Research and Clinical Oncology, 2024

38976041 (PubMed )
Supplement: 432_2024_5850_MOESM2_ESM.xlsx › TCGA-cohort

Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome.

Yavuz BR et al.

Npj Genomic Medicine, 2023

Classification of PTEN missense VUS through exascale simulations.

Sinha S et al.

Briefings in Bioinformatics, 2023

P16 immunohistochemistry is a sensitive and specific surrogate marker for CDKN2A homozygous deletion in gliomas.

Vij M et al.

Acta Neuropathologica Communications, 2023

37138345 (PubMed )
Supplement: 40478_2023_1573_MOESM1_ESM.xlsx › Data1

Neurodevelopmental disorders and cancer networks share pathways; but differ in mechanisms, signaling strength, and outcome.

Yavuz BR et al.

Biorxiv : the Preprint Server for Biology, 2023

Handling of Germline Findings in Clinical Comprehensive Cancer Genomic Profiling.

Okazawa-Sakai M et al.

Acta Medica Okayama, 2022

Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy.

Chang YK et al.

International Journal of Molecular Sciences, 2022

36142267 (PubMed )
Supplement: ijms-23-10353-s001.zip › ijms-1910530-supplementary.pdf

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

Phase II Study of Taselisib in PIK3CA-Mutated Solid Tumors Other Than Breast and Squamous Lung Cancer: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocol I.

Krop IE et al.

Jco Precision Oncology, 2022

RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.

Long Q et al.

Frontiers in Genetics, 2022

35846154 (PubMed )
Supplement: Table3.XLSX › BLCA_RNA_DNA_overlap

Mutations in Profilin 1 Cause Early-Onset Paget's Disease of Bone With Giant Cell Tumors.

Wei Z et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2021

Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Bakouny Z et al.

Nature Communications, 2021

33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf

Distinguishing between PTEN clinical phenotypes through mutation analysis.

Portelli S et al.

Computational and Structural Biotechnology Journal, 2021

34141133 (PubMed )
Supplement: mmc1.docx

Clinicopathological and prognostic impact of somatic mutations in Chinese patients with clear cell renal cell carcinoma.

Bi H et al.

Translational Andrology and Urology, 2020

33457247 (PubMed )
Supplement: tau-09-06-2751-supplementary.pdf

Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Hong TH et al.

Journal for Immunotherapy of Cancer, 2020

33077514 (PubMed )
Supplement: jitc-2020-001199supp002.pdf

Phase and context shape the function of composite oncogenic mutations.

Gorelick AN et al.

Nature, 2020

32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations

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

Immunogenicity and Immune Silence in Human Cancer.

Yarmarkovich M et al.

Frontiers in Immunology, 2020

32256484 (PubMed )
Supplement: Table_4.XLSX › TCGA_HLAs_and_mutations

Transcriptomic characterization and innovative molecular classification of clear cell renal cell carcinoma in the Chinese population.

Zhao Q et al.

Cancer Cell International, 2020

32982583 (PubMed )
Supplement: 12935_2020_1552_MOESM2_ESM.xlsx › Table_S1_a

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

Prediction of functionally significant single nucleotide polymorphisms in PTEN tumor suppressor gene: An in silico approach.

Khan I et al.

Biotechnology and Applied Biochemistry, 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

Prediction and Analysis of Breast Cancer Related Deleterious Non-Synonymous Single Nucleotide Polymorphisms in the PTEN Gene.

Naidu CK et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2016

Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.

Yakubov E et al.

Oncoscience, 2016

27489861 (PubMed )
Supplement: oncoscience-03-149-s001.pdf

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

Spinelli L et al.

Journal of Medical Genetics, 2015

Targeted-capture massively-parallel sequencing enables robust detection of clinically informative mutations from formalin-fixed tumours.

Wong SQ et al.

Scientific Reports, 2013

A new insight into structural and functional impact of single-nucleotide polymorphisms in PTEN gene.

George Priya Doss C et al.

Cell Biochemistry and Biophysics, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Hamartoma and lentiginosis syndromes: clinical and molecular aspects.

Marsh DJ et al.

Frontiers of Hormone Research, 2001

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

Severe Lhermitte-Duclos disease with unique germline mutation of PTEN.

Sutphen R et al.

American Journal of Medical Genetics, 1999

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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."