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RB1 Gene Frameshift Mutation

MedGen UID:
1782828
•Concept ID:
C5448034
•
Cell or Molecular Dysfunction
Synonyms: RB Frameshift Mutation; RB Gene Frameshift Mutation; RB1 Frameshift Mutation; Retinoblastoma 1 Gene Frameshift Mutation; Retinoblastoma Gene Frameshift Mutation

Definition

A deletion or insertion mutation in the RB1 gene that shifts the reading frame for the transcript. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRB1 Gene Frameshift Mutation

Professional guidelines

PubMed

Case Series of Men with the Germline APC I1307K variant and Treatment-Emergent Neuroendocrine Prostate Cancer.
Economides MP, Nakazawa M, Lee JW, Li X, Hollifield L, Chambers R, Sarfaty M, Goldberg JD, Antonarakis ES, Wise DR
Clin Genitourin Cancer 2024 Feb;22(1):e31-e37.e1. Epub 2023 Jun 28 doi: 10.1016/j.clgc.2023.06.013. PMID: 37482523
Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.
Li L, Li H, Zhang J, Gan H, Liu R, Hu X, Pang P, Li B
Int Ophthalmol 2022 Nov;42(11):3421-3430. Epub 2022 Aug 12 doi: 10.1007/s10792-022-02341-2. PMID: 35960463Free PMC Article
RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.
Parma D, Ferrer M, Luce L, Giliberto F, Szijan I
PLoS One 2017;12(12):e0189736. Epub 2017 Dec 20 doi: 10.1371/journal.pone.0189736. PMID: 29261756Free PMC Article

Recent clinical studies

Etiology

Subset of retinoblastoma tumours is associated with BRCA1/2 mutations.
Kim YJ, Park HS, Youk J, Han JW, Byeon SH, Kim SS, Ju YS, Lee CS
Br J Ophthalmol 2024 Jun 20;108(7):1011-1017. doi: 10.1136/bjo-2023-323388. PMID: 37833038
Clinical characteristics and germline mutation spectrum of RB1 in Chinese patients with retinoblastoma: A dual-center study of 145 patients.
Chai P, Luo Y, Yu J, Li Y, Yang J, Zhuang A, Fan J, Han M, Jia R
Exp Eye Res 2021 Apr;205:108456. Epub 2021 Jan 23 doi: 10.1016/j.exer.2021.108456. PMID: 33493472
Impact of RB1 gene mutation type in retinoblastoma patients on clinical presentation and management outcome.
Mehyar M, Mosallam M, Tbakhi A, Saab A, Sultan I, Deebajah R, Jaradat I, AlJabari R, Mohammad M, AlNawaiseh I, Al-Hussaini M, Yousef YA
Hematol Oncol Stem Cell Ther 2020 Sep;13(3):152-159. Epub 2020 Mar 23 doi: 10.1016/j.hemonc.2020.02.006. PMID: 32222358
Retinoblastoma (RB1) pocket domain mutations and promoter hyper-methylation in head and neck cancer.
Sabir M, Baig RM, Ali K, Mahjabeen I, Saeed M, Kayani MA
Cell Oncol (Dordr) 2014 Jun;37(3):203-13. Epub 2014 Jun 3 doi: 10.1007/s13402-014-0173-9. PMID: 24888624
Rb1/105 gene alterations and head and neck carcinogenesis.
Sabir M, Baig RM, Mahjabeen I, Saeed M, Malik FA, Kayani MA
Mol Biol Rep 2012 Oct;39(10):9573-81. Epub 2012 Jun 29 doi: 10.1007/s11033-012-1822-6. PMID: 22744425

Diagnosis

Subset of retinoblastoma tumours is associated with BRCA1/2 mutations.
Kim YJ, Park HS, Youk J, Han JW, Byeon SH, Kim SS, Ju YS, Lee CS
Br J Ophthalmol 2024 Jun 20;108(7):1011-1017. doi: 10.1136/bjo-2023-323388. PMID: 37833038
Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.
Li L, Li H, Zhang J, Gan H, Liu R, Hu X, Pang P, Li B
Int Ophthalmol 2022 Nov;42(11):3421-3430. Epub 2022 Aug 12 doi: 10.1007/s10792-022-02341-2. PMID: 35960463Free PMC Article
Clinical characteristics and germline mutation spectrum of RB1 in Chinese patients with retinoblastoma: A dual-center study of 145 patients.
Chai P, Luo Y, Yu J, Li Y, Yang J, Zhuang A, Fan J, Han M, Jia R
Exp Eye Res 2021 Apr;205:108456. Epub 2021 Jan 23 doi: 10.1016/j.exer.2021.108456. PMID: 33493472
Impact of RB1 gene mutation type in retinoblastoma patients on clinical presentation and management outcome.
Mehyar M, Mosallam M, Tbakhi A, Saab A, Sultan I, Deebajah R, Jaradat I, AlJabari R, Mohammad M, AlNawaiseh I, Al-Hussaini M, Yousef YA
Hematol Oncol Stem Cell Ther 2020 Sep;13(3):152-159. Epub 2020 Mar 23 doi: 10.1016/j.hemonc.2020.02.006. PMID: 32222358
Spectrum of mutations in the RB1 gene in Vietnamese patients with retinoblastoma.
Kiet NC, Khuong LT, Minh DD; Nguyen The Vinh, Quan NHM, Xinh PT, Trang NNC, Luan NT, Khai NM, Vu HA
Mol Vis 2019;25:215-221. Epub 2019 Apr 4 PMID: 30996590Free PMC Article

Therapy

Impact of RB1 gene mutation type in retinoblastoma patients on clinical presentation and management outcome.
Mehyar M, Mosallam M, Tbakhi A, Saab A, Sultan I, Deebajah R, Jaradat I, AlJabari R, Mohammad M, AlNawaiseh I, Al-Hussaini M, Yousef YA
Hematol Oncol Stem Cell Ther 2020 Sep;13(3):152-159. Epub 2020 Mar 23 doi: 10.1016/j.hemonc.2020.02.006. PMID: 32222358
Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation.
Brichard B, Heusterspreute M, De Potter P, Chantrain C, Vermylen C, Sibille C, Gala JL
Eur J Cancer 2006 Jan;42(1):65-72. doi: 10.1016/j.ejca.2005.07.027. PMID: 16343894
Mechanisms of oncogenesis in patients with familial retinoblastoma.
Onadim Z, Hogg A, Cowell JK
Br J Cancer 1993 Nov;68(5):958-64. doi: 10.1038/bjc.1993.461. PMID: 8217609Free PMC Article

Prognosis

Subset of retinoblastoma tumours is associated with BRCA1/2 mutations.
Kim YJ, Park HS, Youk J, Han JW, Byeon SH, Kim SS, Ju YS, Lee CS
Br J Ophthalmol 2024 Jun 20;108(7):1011-1017. doi: 10.1136/bjo-2023-323388. PMID: 37833038
Whole exome analysis reveals the genomic profiling related to chemo-resistance in Chinese population with limited-disease small cell lung cancer.
Yu J, Zhao S, Su Z, Song C, Wu L, Wang J, Bi N, Wang L
Cancer Med 2023 Jan;12(2):1035-1050. Epub 2022 Jun 23 doi: 10.1002/cam4.4950. PMID: 35735600Free PMC Article
Impact of RB1 gene mutation type in retinoblastoma patients on clinical presentation and management outcome.
Mehyar M, Mosallam M, Tbakhi A, Saab A, Sultan I, Deebajah R, Jaradat I, AlJabari R, Mohammad M, AlNawaiseh I, Al-Hussaini M, Yousef YA
Hematol Oncol Stem Cell Ther 2020 Sep;13(3):152-159. Epub 2020 Mar 23 doi: 10.1016/j.hemonc.2020.02.006. PMID: 32222358
The prognostic significance of various 13q14 deletions in chronic lymphocytic leukemia.
Ouillette P, Collins R, Shakhan S, Li J, Li C, Shedden K, Malek SN
Clin Cancer Res 2011 Nov 1;17(21):6778-90. Epub 2011 Sep 2 doi: 10.1158/1078-0432.CCR-11-0785. PMID: 21890456Free PMC Article
Spectrum of RB1 gene mutations and loss of heterozygosity in Mexican patients with retinoblastoma: identification of six novel mutations.
Macías M, Dean M, Atkinson A, Jiménez-Morales S, García-Vazquez FJ, Saldaña-Alvarez Y, Ramírez-Bello J, Chávez M, Orozco L
Cancer Biomark 2008;4(2):93-9. doi: 10.3233/cbm-2008-4205. PMID: 18503160

Clinical prediction guides

Subset of retinoblastoma tumours is associated with BRCA1/2 mutations.
Kim YJ, Park HS, Youk J, Han JW, Byeon SH, Kim SS, Ju YS, Lee CS
Br J Ophthalmol 2024 Jun 20;108(7):1011-1017. doi: 10.1136/bjo-2023-323388. PMID: 37833038
Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.
Li L, Li H, Zhang J, Gan H, Liu R, Hu X, Pang P, Li B
Int Ophthalmol 2022 Nov;42(11):3421-3430. Epub 2022 Aug 12 doi: 10.1007/s10792-022-02341-2. PMID: 35960463Free PMC Article
Clinical characteristics and germline mutation spectrum of RB1 in Chinese patients with retinoblastoma: A dual-center study of 145 patients.
Chai P, Luo Y, Yu J, Li Y, Yang J, Zhuang A, Fan J, Han M, Jia R
Exp Eye Res 2021 Apr;205:108456. Epub 2021 Jan 23 doi: 10.1016/j.exer.2021.108456. PMID: 33493472
Impact of RB1 gene mutation type in retinoblastoma patients on clinical presentation and management outcome.
Mehyar M, Mosallam M, Tbakhi A, Saab A, Sultan I, Deebajah R, Jaradat I, AlJabari R, Mohammad M, AlNawaiseh I, Al-Hussaini M, Yousef YA
Hematol Oncol Stem Cell Ther 2020 Sep;13(3):152-159. Epub 2020 Mar 23 doi: 10.1016/j.hemonc.2020.02.006. PMID: 32222358
Retinoblastoma (RB1) pocket domain mutations and promoter hyper-methylation in head and neck cancer.
Sabir M, Baig RM, Ali K, Mahjabeen I, Saeed M, Kayani MA
Cell Oncol (Dordr) 2014 Jun;37(3):203-13. Epub 2014 Jun 3 doi: 10.1007/s13402-014-0173-9. PMID: 24888624

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