Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.L108R
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PTEN

NM_000314.8:p.L108R

Associated Papers

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1

Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.

Serebriiskii IG et al.

Npj Genomic Medicine, 2023

38001126 (PubMed )
Supplement: 41525_2023_384_MOESM1_ESM.xlsx › Table_S6

Circulating tumor DNA landscape and prognostic impact of acquired resistance to targeted therapies in cancer patients: a national center for precision medicine (PRISM) study.

Bayle A et al.

Molecular Cancer, 2023

37924050 (PubMed )
Supplement: 12943_2023_1878_MOESM3_ESM.xlsx › Feuil1

Cholesterol biogenesis is a PTEN-dependent actionable node for the treatment of endocrine therapy-refractory cancers.

Kaysudu I et al.

Cancer Science, 2023

Comparison of immunohistochemistry and next-generation sequencing results in oncogenic PTEN missense mutations.

Kim M et al.

Pathology, Research and Practice, 2023

Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.

Serebriiskii IG et al.

Nature Communications, 2022

35338148 (PubMed )
Supplement: 41467_2022_29227_MOESM6_ESM.xlsx › Supplemenraty_Data_3

Distinguishing between PTEN clinical phenotypes through mutation analysis.

Portelli S et al.

Computational and Structural Biotechnology Journal, 2021

34141133 (PubMed )
Supplement: mmc1.docx

Combined p53- and PTEN-deficiency activates expression of mesenchyme homeobox 1 (MEOX1) required for growth of triple-negative breast cancer.

Gasparyan M et al.

The Journal of Biological Chemistry, 2020

Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.

Palumbo E et al.

Journal of Biomolecular Structure & Dynamics, 2020

31232187 (PubMed )
Supplement: supplement_1.zip › Supplement_S4_mutants_nochange.xlsx › Mutants_no_change

Soft tissue angiomatosis: another PIK3CA-related disorder.

Boccara O et al.

Histopathology, 2020

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Morpho-Molecular Assessment Indicates New Prognostic Aspects and Personalized Therapeutic Options in Sinonasal Melanoma.

Freiberger SN et al.

Cancers, 2019

Oncogenic PIK3CA mutations increase dependency on the mRNA cap methyltransferase, RNMT, in breast cancer cells.

Dunn S et al.

Open Biology, 2019

Activating PTEN Tumor Suppressor Expression with the CRISPR/dCas9 System.

Moses C et al.

Molecular Therapy. Nucleic Acids, 2019

30654190 (PubMed )
Supplement: mmc1.pdf

Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.

Niyomnaitham S et al.

Peerj, 2019

30828495 (PubMed )
Supplement: peerj-07-6501-s001.xlsx › PTEN

Contribution of allelic imbalance to colorectal cancer.

Palin K et al.

Nature Communications, 2018

30202008 (PubMed )
Supplement: 41467_2018_6132_MOESM11_ESM.xlsx › Somatic_mutations_in_234_MSS_CR

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s023.xlsx › lumc_supp_drivers_edited_1.1

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

Targeted next generation sequencing of mucosal melanomas identifies frequent NF1 and RAS mutations.

Cosgarea I et al.

Oncotarget, 2017

BAY 1125976, a selective allosteric AKT1/2 inhibitor, exhibits high efficacy on AKT signaling-dependent tumor growth in mouse models.

Politz O et al.

International Journal of Cancer, 2017

The fibroblast growth factor receptor genetic status as a potential predictor of the sensitivity to CH5183284/Debio 1347, a novel selective FGFR inhibitor.

Nakanishi Y et al.

Molecular Cancer Therapeutics, 2014

A negative genetic interaction map in isogenic cancer cell lines reveals cancer cell vulnerabilities.

Vizeacoumar FJ et al.

Molecular Systems Biology, 2013

24104479 (PubMed )
Supplement: msb201354-s13.xlsx › PTEN_PIK3CA_status_of_cell-line

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

PIK3CA mutation, but not PTEN loss of function, determines the sensitivity of breast cancer cells to mTOR inhibitory drugs.

Weigelt B et al.

Oncogene, 2011

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.

Stehr H et al.

Molecular Cancer, 2011

21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt

DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors.

Jiao Y et al.

Science (new York, N.y.), 2011

Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair.

Saal LH et al.

Nature Genetics, 2008

Phosphatidylinositol-3-OH kinase or RAS pathway mutations in human breast cancer cell lines.

Hollestelle A et al.

Molecular Cancer Research : Mcr, 2007

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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."