Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.W681*
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RB1

NM_000321.3:p.W681*

Associated Papers

Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.

Allsopp RC et al.

Bmc Cancer, 2025

41351070 (PubMed )
Supplement: 12885_2025_15187_MOESM1_ESM.zip › Supp_Table_1.xlsx › Sheet1

Targeted Next Generation Sequencing molecular profiling and its clinical application in adrenocortical cancer.

Cioppi F et al.

European Journal of Endocrinology, 2024

Genomic Tumor Correlates of Clinical Outcomes Following Organ-Sparing Chemoradiation Therapy for Bladder Cancer.

Kamran SC et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

37870965 (PubMed )
Supplement: ccr-23-0792_supplementary_table_s4_suppst4.xlsx › ChemoTrialGenes

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

Li L et al.

International Ophthalmology, 2022

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

Mutation patterns in recurrent and/or metastatic oropharyngeal squamous cell carcinomas in relation to human papillomavirus status.

Reder H et al.

Cancer Medicine, 2021

33527763 (PubMed )
Supplement: CAM4-10-1347-s006.pdf

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_5

Comprehensive genomic profiling of small cell lung cancer in Chinese patients and the implications for therapeutic potential.

Hu J et al.

Cancer Medicine, 2019

Mutational screening of newly diagnosed multiple myeloma patients by deep targeted sequencing.

Ruiz-Heredia Y et al.

Haematologica, 2018

Genomic Profiling of Large-Cell Neuroendocrine Carcinoma of the Lung.

Miyoshi T et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27507618 (PubMed )
Supplement: 10780432ccr160355-sup-162074_1_supp_3593422_88n10b.xlsx › Supplementary_Table_7_

RB1 gene inactivation by chromothripsis in human retinoblastoma.

McEvoy J et al.

Oncotarget, 2014

24509483 (PubMed )
Supplement: oncotarget-05-438-s002.xlsx › SJ_RB1_Custom_Capture

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

Richter S et al.

American Journal of Human Genetics, 2003

Molecular karyotype of sporadic unilateral retinoblastoma tumors.

Ganguly A et al.

Retina (philadelphia, Pa.), 0

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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."