Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.L70Splc
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PTEN

NM_000314.8:p.L70Splc

Associated Papers

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature.

Abdelhamed Z et al.

Case Reports in Genetics, 2026

Paired DNA/RNA testing uncovers a deep intronic PTEN pathogenic variant associated with clinical Cowden Syndrome: a case report.

Hall MJ et al.

Frontiers in Oncology, 2025

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

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_S3

RB1 aberrations predict outcomes of immune checkpoint inhibitor combination therapy in NSCLC.

Wang Q et al.

Frontiers in Oncology, 2023

37441425 (PubMed )
Supplement: Table_3.xlsx › mutations

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

Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.

Leong TL et al.

Oncogene, 2019

30348992 (PubMed )
Supplement: 41388_2018_536_MOESM4_ESM.xlsx › SNV_Indel

CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells.

Manic G et al.

Gut, 2018

28389531 (PubMed )
Supplement: gutjnl-2016-312623supp002.pdf

Mitochondrial energy metabolism and signalling in human glioblastoma cell lines with different PTEN gene status.

Comelli M et al.

Journal of Bioenergetics and Biomembranes, 2018

Clinical Actionability of Comprehensive Genomic Profiling for Management of Rare or Refractory Cancers.

Hirshfield KM et al.

The Oncologist, 2016

27566247 (PubMed )
Supplement: supp_the2016-0049_Supplemental_Tables.pdf

Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.

Yang J et al.

Human Molecular Genetics, 2016

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

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

Pilarski R et al.

Journal of Medical Genetics, 2011

Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.

Heald B et al.

Gastroenterology, 2010

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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."