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

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

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.

Hansen-Kiss E et al.

Journal of Medical Genetics, 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

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.

Bubien V et al.

Journal of Medical Genetics, 2013

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."