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

rs2854355 in RB1 gene and Birth Weight PMID 27680694 2016 Genome-wide associations for birth weight and correlations with adult disease.

rs121913296 in RB1 gene and Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs1131690843 in RB1 gene and Neoplastic Syndromes, Hereditary PMID 15884040 2005 Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.

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

PMID 12541220 2003 Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

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

PMID 7881418 1994 Spectrum of small length germline mutations in the RB1 gene.

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

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

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

PMID 8651278 1996 The spectrum of RB1 germ-line mutations in hereditary 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 21763628 2011 RB1 gene mutations in Iranian patients with retinoblastoma: report of four novel mutations.

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

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

PMID 20447117 2010 Role of genetic testing in retinoblastoma management at a tertiary referral centre.

PMID 14722923 2004 Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

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

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

PMID 22084214 2011 Outcomes of integrating genetics in management of patients with retinoblastoma.

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

PMID 19390654 2009 Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis.

PMID 12502741 2002 Structural basis for the recognition of the E2F transactivation domain by the retinoblastoma tumor suppressor.

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

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

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

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

PMID 18181215 2008 Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.

PMID 12402348 2002 Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma.

PMID 20090211 2009 A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma.

PMID 27021801 2016 Molecular diagnosis in patients with retinoblastoma: Report of a series of cases.

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

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

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

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

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

PMID 20041224 2009 The human retinoblastoma gene is imprinted.

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 26925970 2016 A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.

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

PMID 10966849 2000 Retinoblastoma: the disease, gene and protein provide critical leads to understand cancer.

PMID 9632788 1998 Growth suppression by an E2F-binding-defective retinoblastoma protein (RB): contribution from the RB C pocket.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 9671401 1998 A novel missense mutation in patients from a retinoblastoma pedigree showing only mild expression of the tumor phenotype.

PMID 16269091 2005 RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.

PMID 16343894 2006 Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation.

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

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

PMID 18000883 2007 Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes.

PMID 12016586 2002 A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene.

PMID 7981694 1994 Three novel germline mutations in exons 8 and 18 of the retinoblastoma gene.

PMID 12955724 2003 Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations.

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

PMID 25424699 2015 Novel mutations in the RB1 gene from Chinese families with a history of retinoblastoma.

PMID 22205104 2012 RB1 mutations and second primary malignancies after hereditary retinoblastoma.

PMID 14769601 2004 Rapid identification of germline mutations in retinoblastoma by protein truncation testing.

rs1131690863 in RB1 gene and Retinoblastoma PMID 25754945 2015 Genetic screening in patients with Retinoblastoma in Israel.

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 26539030 2015 Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma.

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

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

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

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

PMID 23595191 2013 Heritable retinoblastoma and accelerated aortic valve disease.

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

PMID 26396485 2015 Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.

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

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

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

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

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

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

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

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

PMID 12173465 2002 [Spectrum and frequencies of RB1 gene structural defects in retinoblastoma].

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

PMID 12541220 2003 Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

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

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

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

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 Two patients with isolated bilateral retinoblastoma showed missense mutations, S567L and C712R, which have previously been reported in a patient with bilateral tumors and in a family with low penetrance, respectively.

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

PMID 9140452 1997 Genetics of retinoblastoma: a study.

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

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

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

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

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

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

PMID 26530098 2015 Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.

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

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

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

PMID 26925970 2016 A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.

PMID 18677112 2008 Low-penetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras.

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

PMID 10486322 1999 Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families.

PMID 9632788 1998 Growth suppression by an E2F-binding-defective retinoblastoma protein (RB): contribution from the RB C pocket.

PMID 15643604 2005 A novel constitutional mutation affecting splicing of retinoblastoma tumor suppressor gene intron 23 causes partial loss of pRB activity.

PMID 16269091 2005 RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.

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

PMID 16449662 2006 An E2F binding-deficient Rb1 protein partially rescues developmental defects associated with Rb1 nullizygosity.

PMID 18682685 2008 "Comment on ""Lowpenetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras"" by Park et al."

PMID 10671068 1998 Two patients with isolated bilateral retinoblastoma showed missense mutations, S567L and C712R, which have previously been reported in a patient with bilateral tumors and in a family with low penetrance, respectively.

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

PMID 18181215 2008 Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.

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

PMID 22084214 2011 Outcomes of integrating genetics in management of patients with retinoblastoma.

PMID 27879208 2016 Generation of induced pluripotent stem cells (iPSCs) from a retinoblastoma patient carrying a c.2663G>A mutation in RB1 gene.

PMID 10991691 2000 A constitutional homozygous mutation in the RB1 gene in a patient with unilateral retinoblastoma.

PMID 11189328 1997 Exon-by-exon screening for RB germline mutations using Heteroduplex-SSCP analysis.

PMID 22180099 2012 Influence of MDM2 and MDM4 on development and survival in hereditary retinoblastoma.

PMID 19390654 2009 Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis.

PMID 9341870 1997 A splicing mutation in RB1 in low penetrance retinoblastoma.

PMID 12016586 2002 A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene.

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

PMID 14722923 2004 Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

PMID 24336570 2014 Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma.

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

PMID 19339519 2009 Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

PMID 16595082 2006 [Molecular diagnosis of retinoblastoma: molecular epidemiology and genetic counseling].

rs121913295 in RB1 gene and Small cell carcinoma of lung PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.