Gene: RB1

Alternate names for this Gene: OSRC|PPP1R130|RB|p105-Rb|p110-RB1|pRb|pp110

Gene Summary: The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma.

Gene is located in Chromosome: 13

Location in Chromosome : 13q14.2

Description of this Gene: RB transcriptional corepressor 1

Type of Gene: protein-coding

Gene: LOC112268118

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs121913304 in RB1;LOC112268118 gene and Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs1060503079 in RB1;LOC112268118 gene and Neoplastic Syndromes, Hereditary PMID 12541220 2003 Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

PMID 15605413 2005 Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.

PMID 16972022 2006 New RB1 oncogenic mutations and intronic polymorphisms in Serbian retinoblastoma patients: genetic counseling implications.

PMID 11317357 2001 Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.

PMID 18449911 2008 Evaluation of in silico splice tools for decision-making in molecular diagnosis.

PMID 24688104 2014 RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients.

PMID 24225018 2014 Spectrum of RB1 mutations identified in 403 retinoblastoma patients.

PMID 15884040 2005 Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.

PMID 26084579 2015 A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients.

PMID 24791139 2014 Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

PMID 25712084 2015 Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.

PMID 28803391 2018 Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan.

PMID 8651278 1996 The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.

PMID 22219649 2011 Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.

PMID 23981928 2013 Rapid detection of RB1 recurrent mutations in retinoblastoma by ARMS-PCR.

PMID 17096365 2007 Genotype-phenotype correlations in hereditary familial retinoblastoma.

PMID 19280657 2009 Detection of mosaic RB1 mutations in families with retinoblastoma.

PMID 15166261 2004 "Identification of three novel RB1 mutations in Brazilian patients with retinoblastoma by ""exon by exon"" PCR mediated SSCP analysis."

PMID 16463005 2006 Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.

PMID 22963398 2013 Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis.

PMID 9400934 1997 The RB1 gene mutation in a child with ectopic intracranial retinoblastoma.

PMID 28575107 2017 Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

PMID 27582626 2016 Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.

PMID 17960112 2007 Ten novel RB1 gene mutations in patients with retinoblastoma.

PMID 26580448 2015 Germline Mutations in Predisposition Genes in Pediatric Cancer.

PMID 26787237 2016 Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

PMID 22328814 2012 Phenotypic variability of retinocytomas: preregression and postregression growth patterns.

PMID 2594029 1989 Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.

PMID 25758528 2015 RB loss in resistant EGFR mutant lung adenocarcinomas that transform to small-cell lung cancer.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

rs1131690851 in RB1;LOC112268118 gene and Retinoblastoma PMID 17096365 2007 Genotype-phenotype correlations in hereditary familial retinoblastoma.

PMID 28193182 2017 De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm.

PMID 27582626 2016 Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.

PMID 29261756 2017 RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.

PMID 24225018 2014 Spectrum of RB1 mutations identified in 403 retinoblastoma patients.

PMID 23532519 2013 Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 8651278 1996 The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.

PMID 20059380 2010 A c.1363C>T (p.R455X) nonsense mutation of RB1 gene in a southern Chinese retinoblastoma pedigree.

PMID 25928201 2015 Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma.

PMID 24791139 2014 Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

PMID 25754945 2015 Genetic screening in patients with Retinoblastoma in Israel.

PMID 22219649 2011 Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.

PMID 7704558 1994 Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma.

PMID 22963398 2013 Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis.

PMID 25602518 2015 Mutation spectrum of RB1 gene in unilateral retinoblastoma cases from Tunisia and correlations with clinical features.

PMID 24688104 2014 RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients.

PMID 27155049 2016 A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.

PMID 8776589 1996 Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene.

PMID 9973307 1999 RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.

PMID 2594029 1989 Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 11524739 2001 Identification of four novel RB1 germline mutations in Korean retinoblastoma patients.

PMID 7927327 1994 Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.

PMID 8605116 1995 Germline mutations in the RB1 gene in patients with hereditary retinoblastoma.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 10671068 1998 Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 8346255 1993 Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma.

PMID 9311732 1997 Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.

PMID 7795591 1995 Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma.

PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

PMID 9140452 1997 Genetics of retinoblastoma: a study.

PMID 1352883 1992 Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.

PMID 26787237 2016 Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.