Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.W563*
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RB1

NM_000321.3:p.W563*

Associated Papers

Comprehensive next generation sequencing of middle ear neuroendocrine tumors.

Bishop JA et al.

Annals of Diagnostic Pathology, 2026

Spinal Metastasis in a Patient with Supratentorial Glioblastoma with Primitive Neuronal Component: A Case Report with Clinical and Molecular Evaluation.

Hendrych M et al.

Diagnostics (basel, Switzerland), 2023

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

Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.

Escudero A et al.

International Journal of Clinical Oncology, 2022

Identification of novel RB1 genetic variants in Retinoblastoma patients and their impact on clinical outcome.

Manukonda R et al.

Ophthalmic Genetics, 2022

Therapy-related Acute Lymphoblastic Leukaemia has a Unique Genetic Profile Compared to De Novo Acute Lymphoblastic Leukaemia.

Kook HW et al.

Journal of Cancer, 2022

Genetic predisposition to fetal and neonatal cancer.

Escudero A et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2021

Genetic aberrations in Chinese pancreatic cancer patients and their association with anatomic location and disease outcomes.

Lu J et al.

Cancer Medicine, 2021

33350171 (PubMed )
Supplement: CAM4-10-933-s001.xlsx › SNV

Profiling of 520 Candidate Genes in 50 Surgically Treated Chinese Small Cell Lung Cancer Patients.

Yuan T et al.

Frontiers in Oncology, 2021

34168983 (PubMed )
Supplement: DataSheet_2.xlsx › Tab_S3.clean_report

Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan.

Yousef YA et al.

Familial Cancer, 2018

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.

Behjati S et al.

Nature Communications, 2017

28643781 (PubMed )
Supplement: ncomms15936-s5.xlsx › Driver_list

NOTCH, ASCL1, p53 and RB alterations define an alternative pathway driving neuroendocrine and small cell lung carcinomas.

Meder L et al.

International Journal of Cancer, 2016

26340530 (PubMed )
Supplement: IJC-138-927-s005.xlsx › Tabelle1

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

Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

He MY et al.

Molecular Vision, 2014

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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."