Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.R130delFs
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PTEN

NM_000314.8:p.R130delFs

Associated Papers

Pilomatrix-like High-grade Endometrial Carcinoma: An Underdiagnosed Entity With Aggressive Clinicopathologic Features.

Zhou F et al.

The American Journal of Surgical Pathology, 2025

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

Evaluation of whole genome sequencing utility in identifying driver alterations in cancer genome.

Nagashima T et al.

Scientific Reports, 2024

39396060 (PubMed )
Supplement: 41598_2024_74272_MOESM1_ESM.xlsx › somatic_snv_indel

Endometrioid ovarian carcinoma landscape: pathological and molecular characterization.

de Nonneville A et al.

Molecular Oncology, 2024

38923749 (PubMed )
Supplement: MOL2-18-2586-s001.zip › mol213679-sup-0010-TableS7.xlsx › SupTable7

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

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

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

Endometrial Carcinoma: Molecular Cytogenetics and Transcriptomic Profile.

Brunetti M et al.

Cancers, 2022

35884597 (PubMed )
Supplement: cancers-14-03536-s001.zip › Table_S2..xlsx › Sheet1

Genomic landscape of advanced endometrial cancer analyzed by targeted next-generation sequencing and the cancer genome atlas (TCGA) dataset.

Hong JH et al.

Journal of Gynecologic Oncology, 2022

35128859 (PubMed )
Supplement: jgo-33-e29-s002.xls › jgo-33-e29-s002

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations

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

PTEN Alterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine?

Fusco N et al.

Genes, 2020

Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Mittempergher L et al.

Plos One, 2020

32639993 (PubMed )
Supplement: pone.0235766.s008.xlsx › Table_S2B__all_genes_

Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

Pennington KP et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2014

The mutational landscape of adenoid cystic carcinoma.

Ho AS et al.

Nature Genetics, 2013

23685749 (PubMed )
Supplement: NIHMS474972-supplement-1.pdf

Phosphatase and tensin homolog (PTEN) pseudogene expression in endometrial cancer: a conserved regulatory mechanism important in tumorigenesis?

Ioffe YJ et al.

Gynecologic Oncology, 2012

PTEN deficiency in endometrioid endometrial adenocarcinomas predicts sensitivity to PARP inhibitors.

Dedes KJ et al.

Science Translational Medicine, 2010

Molecular genetic alterations in endometrioid carcinomas of the ovary: similar frequency of beta-catenin abnormalities but lower rate of microsatellite instability and PTEN alterations than in uterine endometrioid carcinomas.

Catasús L et al.

Human Pathology, 2004

Molecular alterations associated with cyclin D1 overexpression in endometrial cancer.

Moreno-Bueno G et al.

International Journal of Cancer, 2004

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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."