Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.R55S
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PTEN

NM_000314.8:p.R55S

Associated Papers

Blood-Based Genomic Alteration Signature for Predicting Progression-Free Survival in De Novo Metastatic Hormone-Sensitive Prostate Cancer: A Real-World Study.

Wang R et al.

Cancer Research Communications, 2025

41217768 (PubMed )
Supplement: crc-25-0384_supplementary_table_s2_suppst2.xlsx › Supplementary_Table_2

Cancer and disease profiles for PTEN pathogenic variants in Japanese population.

Kanazashi Y et al.

Journal of Human Genetics, 2025

39663357 (PubMed )
Supplement: 10038_2024_1311_MOESM1_ESM.xlsx › Table_S9

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

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM4_ESM.xlsx › Information

The genomic landscape of pediatric renal cell carcinomas.

Beck P et al.

Iscience, 2022

35445187 (PubMed )
Supplement: mmc3.xlsx › DKFZ_SNVs_and_indels_pipeline

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

Molecular Pathology and Targeted Therapies for Personalized Management of Central Nervous System Germinoma.

Ilcus C et al.

Journal of Personalized Medicine, 2021

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM5_ESM.xlsx › SD2

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

Chen HJ et al.

Human Mutation, 2017

Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.

Vettore AL et al.

Genome Medicine, 2015

26395002 (PubMed )
Supplement: 13073_2015_219_MOESM12_ESM.xls › Plan1

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

Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer.

Shuch B et al.

The Journal of Urology, 2013

Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome.

Mester JL et al.

Urology, 2012

A novel PTEN mutation in a Korean patient with Cowden syndrome and vascular anomalies.

Bae BG et al.

Acta Dermato-venereologica, 2011

PTEN mutation spectrum in breast cancers and breast hyperplasia.

Yang J et al.

Journal of Cancer Research and Clinical Oncology, 2010

The impact of NOTCH1, FBW7 and PTEN mutations on prognosis and downstream signaling in pediatric T-cell acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Larson Gedman A et al.

Leukemia, 2009

PTEN inactivation is rare in melanoma tumours but occurs frequently in melanoma cell lines.

Pollock PM et al.

Melanoma Research, 2002

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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."