Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.R130fs
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PTEN

NM_000314.8:p.R130fs

Associated Papers

Coexistent PTEN and PIK3CA alterations hyperactivate mTORC1 signaling in endometrial cancers and cause their selective sensitivity to mTORC1 inhibition.

Solomon H et al.

Biorxiv : the Preprint Server for Biology, 2026

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

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

Yavuz BR et al.

Npj Genomic Medicine, 2023

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

Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.

Cao Y et al.

Genetics in Medicine Open, 2023

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_mutations

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

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

Fusco N et al.

Genes, 2020

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

Clinically Actionable Insights into Initial and Matched Recurrent Glioblastomas to Inform Novel Treatment Approaches.

Ellis HP et al.

Journal of Oncology, 2019

32082376 (PubMed )
Supplement: 4878547.f1.zip › 4878547.f1 › Ellis_et_al_SNVs_041018_Supplementary_Tables.xlsx › TableS7_TCGA_mutatons

EGFR feedback-inhibition by Ran-binding protein 6 is disrupted in cancer.

Oldrini B et al.

Nature Communications, 2017

29229958 (PubMed )
Supplement: 41467_2017_2185_MOESM8_ESM.xlsx › Table_S7

Concurrent BRAF and PTEN mutations in melanoma of unknown origin presenting as a breast mass.

Agosto-Arroyo E et al.

Sage Open Medical Case Reports, 2017

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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."