Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.V654fs
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RB1

NM_000321.3:p.V654fs

Associated Papers

ctDNA as a Molecular Biomarker in the Phase II Trial of Imatinib plus Binimetinib in Patients with Advanced Gastrointestinal Stromal Tumor.

Kelly CM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

An overview of RB1 transcript alterations detected during retinoblastoma genetic screening.

Price EA et al.

Ophthalmic Genetics, 2024

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_5.XLSX › Annotated_variants__group_2

Mutation spectrum of retinoblastoma patients in Vietnam.

Linh DNH et al.

Molecular Genetics & Genomic Medicine, 2023

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Li W et al.

Investigative Ophthalmology & Visual Science, 2023

36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant

Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.

Li L et al.

International Ophthalmology, 2022

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.

Schamschula E et al.

Biomolecules, 2022

36291559 (PubMed )
Supplement: biomolecules-12-01350-s001.zip › Figures_and_Tables › Tables_S1-S3.xlsx › Table_S2C

Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.

Rojanaporn D et al.

Translational Vision Science & Technology, 2022

36173648 (PubMed )
Supplement: tvst-11-9-30_s001.xlsx › Bilat__germline__n__938

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 › RB1

An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Lin J et al.

Frontiers in Immunology, 2022

36505399 (PubMed )
Supplement: Table_2.xlsx › vars__fs_

Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.

Hoang CQ et al.

Molecular and Clinical Oncology, 2021

Generation of Non-Small Cell Lung Cancer Patient-Derived Xenografts to Study Intratumor Heterogeneity.

Kanaki Z et al.

Cancers, 2021

Distinct mutational backgrounds and clonal architectures implicated prognostic discrepancies in small-cell carcinomas of the esophagus and lung.

Song Z et al.

Cell Death & Disease, 2021

33980813 (PubMed )
Supplement: 41419_2021_3754_MOESM2_ESM.xlsx › Table_S2

Molecular Changes in Retinoblastoma beyond RB1: Findings from Next-Generation Sequencing.

Francis JH et al.

Cancers, 2021

Genomics, Morphoproteomics, and Treatment Patterns of Patients with Alveolar Soft Part Sarcoma and Response to Multiple Experimental Therapies.

Groisberg R et al.

Molecular Cancer Therapeutics, 2020

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s102.xlsx › mCRPC_private

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

Tomar S et al.

Plos One, 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."