Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.F241_E242insFs
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PTEN

NM_000314.8:p.F241_E242insFs

Associated Papers

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

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

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

Detection and verification of 2.3 million cancer mutations in NCI60 cancer cell lines with a cloud search engine.

Prakash A et al.

Journal of Proteomics, 2019

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Kim YS et al.

Bmc Urology, 2018

30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Lee JY et al.

Translational Oncology, 2018

29161613 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Lee JY et al.

Oncotarget, 2015

26527317 (PubMed )
Supplement: oncotarget-06-43731-s002.xlsx › Table_S1

Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Park K et al.

Oncotarget, 2015

26009992 (PubMed )
Supplement: oncotarget-06-24499-s002.xlsx › Supplementary_Table_1

High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Kim S et al.

Plos One, 2014

25372287 (PubMed )
Supplement: pone.0111693.s003.xls › ion_ampliseq_cancer_panel_mutat

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

Ikediobi ON et al.

Molecular Cancer Therapeutics, 2006

Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease.

Harada N et al.

Journal of Gastroenterology, 2003

Motif analysis of the tumor suppressor gene MMAC/PTEN identifies tyrosines critical for tumor suppression and lipid phosphatase activity.

Koul D et al.

Oncogene, 2002

Suppression of matrix metalloproteinase-2 gene expression and invasion in human glioma cells by MMAC/PTEN.

Koul D et al.

Oncogene, 2001

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

Marsh DJ et al.

Human Molecular Genetics, 1999

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.

Marsh DJ et al.

Human Molecular Genetics, 1998

MMAC1/PTEN mutations in primary tumor specimens and tumor cell lines.

Teng DH et al.

Cancer Research, 1997

Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers.

Steck PA et al.

Nature Genetics, 1997

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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."