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RB1; Retinoblastoma 1 (including osteosarcoma) (13q14.2)
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    Summary Information - RB1
    Gene Database Entries for RB1
    Other RB1 Related Resources
    The RB Tumour Supressor Family of Genes
    RB1 and Retinoblastoma
       - Retinoblastoma and Genetic Counselling
       - Second Malignancies After Retinoblastoma
    RB1 and Osteosarcoma
    RB1 and Breast Cancer
    RB1 and Acute Leukaemias
    RB1 and Bladder Cancer
    RB1 and Lung cancer
    RB1 and Other Cancers
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  Summary Information

RB1; Retinoblastoma 1 (including osteosarcoma)

Location: 13q14.2
Alias: Rb

Overview: The Retinoblastoma gene (RB1), located on chromosome 13, is a tumour suppressor gene that was discovered in genetic studies of hereditary retinoblastoma. It also has a role in other cancers including osteosarcoma. The RB1 gene is important because it helps regulates cell division, if the gene is absent then cells may proliferate in an uncontrolled way leading to tumour formation. In hereditary retinoblastoma the RB1 gene is lost and children have multiple tumours in both eyes, while in children with sporadic (non-hereditary) retinoblastoma there is usually only one tumour in one eye.

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  Gene Database Entries for RB1

OMIM
GeneCard (Weizmann Institute)
Human Gene Mutation Database (Cardiff, UK)
Tumor Gene Database
Swiss-Prot
Locus Link
UniGene
GenAtlas
GDB
Nomenclature (search for RB1)

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  Other Related Resources


RB1-gene mutation database (Essen, Germany) a database of 368 RB1 mutations in retinobkastoma published in Human Mutation 1999; 14(4) 283-288. Additional unpublished mutation/polymorphism data are available in a password protected area.
Retinoblastoma and the RB1 Gene (National Center for Biotechnology Information) An overview of retinoblastoma and the RB1 gene with links to other gene databases.
Retinoblastoma Resources
Osteosarcoma Resources

  • Medline Search: RB1 (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]
  • Medline Search: RB1 and Retinoblastoma (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]
  • Medline Search: RB1 and Osteosarcoma (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]
    Search Medline for related articles (PubMed)
  • Medline Search: cancer AND gene AND (RB1[TI] OR Rb[TI]) (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]
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  •   The RB Tumour Supressor Family of Genes

  • Stiegler P, et al. The RB family of cell cycle regulatory factors. [Review] J Cell Biochem Suppl 1998;30-31:30-6    Related articles (PubMed)

  • Mulligan G, et al. The retinoblastoma gene family: cousins with overlapping interests. Trends Genet. 1998; 14(6):223-9    Related articles (PubMed)

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  •   RB1 and Retinoblastoma

    In hereditary retinoblastoma the RB1 gene is lost and children have multiple tumours in both eyes, while in children with sporadic (non-hereditary) retinoblastoma there is usually only one tumour in one eye.

  • Zajaczek S, et al. Frequency and nature of germline Rb-1 gene mutations in a series of patients with sporadic unilateral retinoblastoma. Eur J Cancer 1999;35(13):1824-7    Related articles (PubMed)

  • Lohmann DR RB1 gene mutations in retinoblastoma. [Review] Hum Mutat 1999;14(4):283-8    Related articles (PubMed)

  • Harbour JW Overview of RB gene mutations in patients with retinoblastoma. Implications for clinical genetic screening. (Meta-analysis) Ophthalmology 1998; 105:1442-7    Related articles (PubMed)

  • Medline Search: RB1 AND retinoblastoma (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]

  • Medline Search: hereditary retinoblastoma (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]

    Related Resources
    Retinoblastoma Genetics
    Retinoblastoma : Clinical and Epidemiological Information

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  •   Retinoblastoma and Genetic Counselling

  • Yandell DW et al. Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. N Engl J Med 1989; 321:1689-95    Related articles (PubMed)

  • Onadim Z et al. Genetic counselling in retinoblastoma: importance of ocular fundus examination of first degree relatives and linkage analysis. Br J Ophthalmol 1991; 75:147-50    Related articles (PubMed)

  • Medline Search: genetic counselling AND retinoblastoma (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]

    Related Resources
    Genetic Counceling
    Retinoblastoma Genetics
    Retinoblastoma : Clinical and Epidemiological Information

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  •   Second Malignancies After Retinoblastoma

    Some secondary malignancies in patients with retinoblastoma may be long-term side effects of radiation and chemotherapy. However, rates of second cancers in people treated for hereditary retinoblastoma are higher than in people who had sporadic retinoblastoma - suggesting an underlying genetic susceptibility to a variety of cancers. Osteosarcoma is the most frequent second malignancy following retinoblastoma, this can be associated with the RB1 gene and/or induced by radiotherapy.

  • Draper GJ et al. Second primary neoplasms in patients with retinoblastoma. Br J Cancer 1986; 53:661-71    Related articles (PubMed)

  • Moll AC. et al. Second primary tumors in patients with retinoblastoma. A review of the literature. Ophthalmic Genet 1997; 18:27-34    Related articles (PubMed)

  • Mitchell C Second malignant neoplasms in retinoblastoma. Fact and fiction. Ophthalmic Paediatr Genet 1988; 9:161-5    Related articles (PubMed)

  • Helton KJ et al. Bone tumors other than osteosarcoma after retinoblastoma. Cancer 1993; 71:2847-53    Related articles (PubMed)

  • Medline Search: second malignancies AND retinoblastoma (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]

    Related Resources
    Retinoblastoma Genetics
    Retinoblastoma : Clinical and Epidemiological Information

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  •   RB1 and Osteosarcoma

  • Toguchida J et al. Chromosomal reorganization for the expression of recessive mutation of retinoblastoma susceptibility gene in the development of osteosarcoma. Cancer Res 1988;48:3939-43    Related articles (PubMed)

  • Miller CW et al. Alterations of the p53, Rb and MDM2 genes in osteosarcoma. J Cancer Res Clin Oncol 1996; 122:559-65    Related articles (PubMed)

  • Medline Search: RB1 AND osteosarcoma (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]

    Related Resources
    TP53 gene
    MDM2 gene
    Osteosarcoma Genetics
    Osteosarcoma : Clinical and Epidemiological Information

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  •   RB1 and Breast Cancer

    RB1 mutations are found in some breast cancers; there is a non-random relationship between p53 mutation and loss of material from the RB1 locus.

  • Eyfjord JE, Thorlacius S Genetic changes in breast carcinomas in an Icelandic population. Pharmacogenetics 1992;2:309-16    Related articles (PubMed)

  • Ceccarelli C et al. Retinoblastoma (RB1) gene product expression in breast carcinoma. Correlation with Ki-67 growth fraction and biopathological profile. J Clin Pathol 1998; 51:818-24    Related articles (PubMed)

  • Medline Search: RB1 AND breast cancer (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]

    Related Resources
    TP53 gene
    Breast Cancer Genetics
    Breast Cancer : Clinical and Epidemiological Information

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  •   RB1 and Acute Leukaemias

  • Sauerbrey A, et al. Expression of the retinoblastoma tumor suppressor gene (RB-1) in acute leukemia. Leuk Lymphoma 1998; 28(3-4):275-83    Related articles (PubMed)

  • Kornblau SM, et al. Low and maximally phosphorylated levels of the retinoblastoma protein confer poor prognosis in newly diagnosed acute myelogenous leukemia: a prospective study. Clin Cancer Res 1998; 4(8):1955-63    Related articles (PubMed)

  • Ahuja HG, et al. Abnormalities of the retinoblastoma gene in the pathogenesis of acute leukemia. Blood 1991; 78(12):3259-68    Related articles (PubMed)

  • Medline Search: RB1 AND leukemia (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]

    Related Resources
    Leukaemia Genetics
    Leukaemia : Clinical and Epidemiological Information

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  •   RB1 and Bladder Cancer

  • Cote RJ, et al. Elevated and absent pRb expression is associated with bladder cancer progression and has cooperative effects with p53. Cancer Res. 1998; 58(6):1090-4    Related articles (PubMed)

  • Grossman HB, et al. p53 and RB expression predict progression in T1 bladder cancer. Clin Cancer Res. 1998; 4(4):829-34    Related articles (PubMed)

  • Niehans GA, et al. G1 checkpoint protein and p53 abnormalities occur in most invasive transitional cell carcinomas of the urinary bladder. Br J Cancer 1999; 80(8):1175-84    Related articles (PubMed)

  • Medline Search: (Rb OR RB1) AND bladder cancer (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]

    Related Resources
    Bladder Ca. Genetics
    Bladder Ca. : Clinical and Epidemiological Information

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  •   RB1 and Lung cancer

  • Kelley MJ, et al. Differential inactivation of CDKN2 and Rb protein in non-small-cell and small-cell lung cancer cell lines.    Related articles (PubMed)

  • Otterson GA, et al. Absence of p16INK4 protein is restricted to the subset of lung cancer lines that retains wildtype RB. Oncogene. 1994; 9(11):3375-8    Related articles (PubMed)

  • Harbour JW, et al. Abnormalities in structure and expression of the human retinoblastoma gene in SCLC. Science. 1988;241(4863):353-7    Related articles (PubMed)

  • Medline Search: lung cancer[TI] and RB[TI] (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]

    Related Resources
    CDKN2A gene (P16 INK4A)
    Lung Cancer Genetics
    Lung Cancer : Clinical and Epidemiological Information

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  •   RB1 and Other Cancers

  • Sellers WR, Kaelin WG Role of the retinoblastoma protein in the pathogenesis of human cancer. (Review) J Clin Oncol 1997;15:3301-12    Related articles (PubMed)

  • Eisenberg MB. et al Loss of heterozygosity in the retinoblastoma tumor suppressor gene in skull base chordomas and chondrosarcomas. Surg Neurol 1997; 47(:156-60    Related articles (PubMed)

  • Mutirangura A et al. Identification of distinct regions of allelic loss on chromosome 13q in nasopharyngeal cancer from paraffin embedded tissues. Int J Cancer 1999; 83:210-214    Related articles (PubMed)

  • Gleich LL, et al. The loss of heterozygosity in retinoblastoma and p53 suppressor genes as a prognostic indicator for head and neck cancer. Laryngoscope 1996; 106(11):1378-81    Related articles (PubMed)

  • Medline Search: RB1 AND cancer (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]

    Related Resources
    Cancer Resources by Disease Type
    Resources by Disease Type

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