Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.Q219*
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PTEN

NM_000314.8:p.Q219*

Associated Papers

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc5.xlsx › Table_S12B

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

NKX3.1 Expression and Molecular Characterization of Secretory Myoepithelial Carcinoma (SMCA): Advancing the Case for a Salivary Mucous Acinar Phenotype.

Patel S et al.

Head and Neck Pathology, 2023

The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden.

Díaz de Ståhl T et al.

Journal of Translational Medicine, 2023

37221626 (PubMed )
Supplement: 12967_2023_4178_MOESM2_ESM.xlsx › Table_S1

Neuropathological signatures revealed by transcriptomic and proteomic analysis in Pten-deficient mouse models.

Cheung SKK et al.

Scientific Reports, 2023

Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Gan M et al.

Cancer Medicine, 2022

35586877 (PubMed )
Supplement: CAM4-11-4070-s004.xlsx › Table_S1

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

Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Pena-Couso L et al.

Orphanet Journal of Rare Diseases, 2022

35227301 (PubMed )
Supplement: 13023_2021_2079_MOESM1_ESM.pdf

A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons.

Luna S et al.

Human Mutation, 2021

Integrative Genomic Analyses of Patient-Matched Intracranial and Extracranial Metastases Reveal a Novel Brain-Specific Landscape of Genetic Variants in Driver Genes of Malignant Melanoma.

Váraljai R et al.

Cancers, 2021

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.

Zivanovic Bujak A et al.

Plos Medicine, 2020

33001984 (PubMed )
Supplement: pmed.1003363.s013.xlsx › S4_Table

Cowden syndrome complicated by schizophrenia: A first clinical report.

Kobayashi Y et al.

European Journal of Medical Genetics, 2020

Genomic landscape of platinum resistant and sensitive testicular cancers.

Loveday C et al.

Nature Communications, 2020

32366847 (PubMed )
Supplement: 41467_2020_15768_MOESM7_ESM.xlsx › Supplementary_Data_4

Amplicon-Based NGS Panels for Actionable Cancer Target Identification in Follicular Cell-Derived Thyroid Neoplasia.

Madsen MB et al.

Frontiers in Endocrinology, 2020

32265839 (PubMed )
Supplement: Table_1.pdf

Non-invasive analysis of tumor mutation profiles and druggable mutations by sequencing of cell free DNA of Chinese metastatic breast cancer patients.

Li S et al.

Thoracic Cancer, 2019

Targeted next-generation sequencing of endometrial cancer and matched circulating tumor DNA: identification of plasma-based, tumor-associated mutations in early stage patients.

Bolivar AM et al.

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

Somatic mutations in salivary duct carcinoma and potential therapeutic targets.

Khoo TK et al.

Oncotarget, 2017

StrandAdvantage test for early-line and advanced-stage treatment decisions in solid tumors.

Sen M et al.

Cancer Medicine, 2017

28371134 (PubMed )
Supplement: CAM4-6-883-s002.xlsx › S16_SAvs48-gene_test

TP53 and RET may serve as biomarkers of prognostic evaluation and targeted therapy in hepatocellular carcinoma.

Ye S et al.

Oncology Reports, 2017

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

Hamblin A et al.

Plos Medicine, 2017

28196074 (PubMed )
Supplement: pmed.1002230.s004.xlsx › Colorectal_Carcinoma

Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.

Siroy AE et al.

The Journal of Investigative Dermatology, 2015

25148578 (PubMed )
Supplement: NIHMS622327-supplement-supplement_1.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

PIK3CA mutations and amplification in endometrioid endometrial carcinomas: relation to other genetic defects and clinicopathologic status of the tumors.

Konopka B et al.

Human Pathology, 2011

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

Pilarski R et al.

Journal of Medical Genetics, 2011

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.

Mester JL et al.

European Journal of Human Genetics : Ejhg, 2011

First report of ovarian dysgerminoma in Cowden syndrome with germline PTEN mutation and PTEN-related 10q loss of tumor heterozygosity.

Cho MY et al.

The American Journal of Surgical Pathology, 2008

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

PTEN mutations in gliomas and glioneuronal tumors.

Duerr EM et al.

Oncogene, 1998

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

PTEN Deregulation Mechanisms in Salivary Gland Carcinomas.

Papanikolaou V et al.

Cancer Diagnosis & Prognosis, 0

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