p16 genes

Summary

Summary: Tumor suppressor genes located on human chromosome 9 in the region 9p21. This gene is either deleted or mutated in a wide range of malignancies. (From Segen, Current Med Talk, 1995) Two alternatively spliced gene products are encoded by p16: CYCLIN-DEPENDENT KINASE INHIBITOR P16 and TUMOR SUPPRESSOR PROTEIN P14ARF.

Top Publications

  1. pmc A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
    Laura J Scott
    Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Science 316:1341-5. 2007
  2. ncbi High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland 20892 7236, USA
    Cancer Res 66:9818-28. 2006
  3. ncbi Geographical variation in the penetrance of CDKN2A mutations for melanoma
    D Timothy Bishop
    Genetic Epidemiology Division, Cancer Research UK Clinical Centre, St James s University Hospital, Leeds, UK
    J Natl Cancer Inst 94:894-903. 2002
  4. ncbi p16(MTS-1/CDKN2/INK4a) in cancer progression
    J W Rocco
    Department of Otology and Laryngology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Exp Cell Res 264:42-55. 2001
  5. ncbi Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations
    A M Goldstein
    Genetic Epidemiology Branch, National Cancer Institute, Bethesda, MD 20892 7236, USA
    J Natl Cancer Inst 92:1006-10. 2000
  6. pmc A common allele on chromosome 9 associated with coronary heart disease
    Ruth McPherson
    Division of Cardiology, University of Ottawa Heart Institute, Ottawa K1Y4W7, Canada
    Science 316:1488-91. 2007
  7. ncbi p16, MGMT, RARbeta2, CLDN3, CRBP and MT1G gene methylation in esophageal squamous cell carcinoma and its precursor lesions
    Mark J Roth
    National Cancer Institute, 6120 Executive Blvd, EPS 320, MSC 7232, Rockville, MD 20892, USA
    Oncol Rep 15:1591-7. 2006
  8. ncbi Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892 7236, USA
    Cancer Epidemiol Biomarkers Prev 14:2208-12. 2005
  9. ncbi ARF promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppression pathways
    Y Zhang
    Department of Biochemistry and Biophysics, School of Medicine, University of North Carolina at Chapel Hill, 27599 3280, USA
    Cell 92:725-34. 1998
  10. ncbi Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants
    M S Greenblatt
    Department of Medicine, Vermont Cancer Center, University of Vermont, Burlington, VT 05401, USA
    Oncogene 22:1150-63. 2003

Detail Information

Publications210 found, 100 shown here

  1. pmc A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
    Laura J Scott
    Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Science 316:1341-5. 2007
    ..This brings the number of T2D loci now confidently identified to at least 10...
  2. ncbi High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland 20892 7236, USA
    Cancer Res 66:9818-28. 2006
    ..This GenoMEL study provides the most extensive characterization of mutations in high-risk melanoma susceptibility genes in families with three or more melanoma patients yet available...
  3. ncbi Geographical variation in the penetrance of CDKN2A mutations for melanoma
    D Timothy Bishop
    Genetic Epidemiology Division, Cancer Research UK Clinical Centre, St James s University Hospital, Leeds, UK
    J Natl Cancer Inst 94:894-903. 2002
    ..We examined the penetrance of such mutations using data from eight groups from Europe, Australia and the United States that are part of The Melanoma Genetics Consortium...
  4. ncbi p16(MTS-1/CDKN2/INK4a) in cancer progression
    J W Rocco
    Department of Otology and Laryngology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Exp Cell Res 264:42-55. 2001
    ..It is now believed that loss of p16 is an early and often critical event in tumor progression. Consequently, p16 is a major tumor-suppressor gene whose frequent loss occurs early in many human cancers...
  5. ncbi Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations
    A M Goldstein
    Genetic Epidemiology Branch, National Cancer Institute, Bethesda, MD 20892 7236, USA
    J Natl Cancer Inst 92:1006-10. 2000
    ..CDKN2A is a tumor suppressor gene that encodes p16 (which inhibits activity of the cyclin D1-CDK4 complex) with germline mutations detected in 10%-25% of melanoma-prone families, some of whom are also prone to pancreatic cancer...
  6. pmc A common allele on chromosome 9 associated with coronary heart disease
    Ruth McPherson
    Division of Cardiology, University of Ottawa Heart Institute, Ottawa K1Y4W7, Canada
    Science 316:1488-91. 2007
    ..Homozygotes for the risk allele make up 20 to 25% of Caucasians and have a approximately 30 to 40% increased risk of CHD...
  7. ncbi p16, MGMT, RARbeta2, CLDN3, CRBP and MT1G gene methylation in esophageal squamous cell carcinoma and its precursor lesions
    Mark J Roth
    National Cancer Institute, 6120 Executive Blvd, EPS 320, MSC 7232, Rockville, MD 20892, USA
    Oncol Rep 15:1591-7. 2006
    ..Balloon cytology may be able to screen the length of the esophagus effectively for a subset of cells with abnormal methylation, and may be useful in a primary screening test for ESCC and its precursor lesions...
  8. ncbi Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892 7236, USA
    Cancer Epidemiol Biomarkers Prev 14:2208-12. 2005
    ..Additional studies are needed to confirm these findings and to explore the mechanisms that may contribute to this relationship...
  9. ncbi ARF promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppression pathways
    Y Zhang
    Department of Biochemistry and Biophysics, School of Medicine, University of North Carolina at Chapel Hill, 27599 3280, USA
    Cell 92:725-34. 1998
    ..Thus, deletion of the ARF-INK4a locus simultaneously impairs both the INK4a-cyclin D/CDK4-RB and the ARF-MDM2-p53 pathways...
  10. ncbi Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants
    M S Greenblatt
    Department of Medicine, Vermont Cancer Center, University of Vermont, Burlington, VT 05401, USA
    Oncogene 22:1150-63. 2003
    ..These data validate our hypothesis that detailed evolutionary analyses help predict the consequences of missense amino-acid variants...
  11. ncbi The Ink4a tumor suppressor gene product, p19Arf, interacts with MDM2 and neutralizes MDM2's inhibition of p53
    J Pomerantz
    Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Cell 92:713-23. 1998
    ..Together, our findings ascribe INK4a's potent tumor suppressor activity to the cooperative actions of its two protein products and their relation to the two central growth control pathways, Rb and p53...
  12. ncbi p16INK4A and CDH13 hypermethylation in tumor and serum of non-small cell lung cancer patients
    Paola Ulivi
    Istituto Oncologico Romagnolo, Morgagni Pierantoni Hospital, Forlì Meldola, Italy
    J Cell Physiol 206:611-5. 2006
    ....
  13. ncbi Malignant melanoma: genetics and therapeutics in the genomic era
    Lynda Chin
    Melanoma Program, Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA
    Genes Dev 20:2149-82. 2006
    ..In addition, we look forward toward how these new insights will impact on therapeutic options for metastatic melanoma in the near future...
  14. pmc Promoter methylation status of E-cadherin, hMLH1, and p16 genes in nonneoplastic gastric epithelia
    Takayoshi Waki
    Department of Pathology, Yamagata University School of Medicine, Yamagata, Japan
    Am J Pathol 161:399-403. 2002
    ..epithelia as a precancerous signal, we investigated promoter methylation status of E-cadherin, hMLH1, and p16 genes in nonneoplastic cells of various organs obtained at autopsy, and compared the results with those of ..
  15. ncbi Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892, USA
    Int J Cancer 121:825-31. 2007
    ..Differences in melanoma risk across geographic regions justify the need for individual studies in each country before counseling should be considered...
  16. ncbi The INK4A/ARF locus and its two gene products
    N E Sharpless
    Dana Farber Cancer Institute, 44 Binney Street, Boston, Massachusetts 02115, USA
    Curr Opin Genet Dev 9:22-30. 1999
    ..Two genes comprising overlapping reading frames encoding p16(INK4a) and p19(ARF) have been discovered at this locus and, remarkably, both play an important role in regulating cell growth, survival and senescence...
  17. ncbi A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family
    J A Randerson-Moor
    ICRF Genetic Epidemiology Division, ICRF Clinical Centre in Leeds, Cancer Genetics Building, St James s University Hospital, Beckett Street, Leeds LS9 7TF, UK
    Hum Mol Genet 10:55-62. 2001
    ....
  18. ncbi Ewing sarcomas with p53 mutation or p16/p14ARF homozygous deletion: a highly lethal subset associated with poor chemoresponse
    Hsuan Ying Huang
    Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY 10021, USA
    J Clin Oncol 23:548-58. 2005
    ..We provide the first combined prognostic analysis of these three molecular parameters in ES...
  19. ncbi Quantitative methylation analysis of resection margins and lymph nodes in oral squamous cell carcinoma
    Richard J Shaw
    Molecular Genetics and Oncology Group, School of Dental Sciences, University of Liverpool, Liverpool L69 3GN, UK
    Br J Oral Maxillofac Surg 45:617-22. 2007
    ..PMA upgraded 13 of the 20 surgical margins, 6 of which subsequently had a recurrent tumour. Not all of these recurrences were predicted and the effects of adjuvant treatment make firm conclusions difficult...
  20. ncbi Genetic clonal diversity predicts progression to esophageal adenocarcinoma
    Carlo C Maley
    The Wistar Institute, 3601 Spruce St, Philadelphia, Pennsylvania 19104, USA
    Nat Genet 38:468-73. 2006
    ..6) and ploidy abnormalities. Progression to cancer through accumulation of clonal diversity, on which natural selection acts, may be a fundamental principle of neoplasia with important clinical implications...
  21. pmc Measurement of relative copy number of CDKN2A/ARF and CDKN2B in bladder cancer by real-time quantitative PCR and multiplex ligation-dependent probe amplification
    Joanne S Aveyard
    Cancer Research UK Clinical Centre, St James s University Hospital, Beckett Street, Leeds, LS9 7TF UK
    J Mol Diagn 6:356-65. 2004
    ..We conclude that with appropriate controls RTQ-PCR is a sensitive and robust method to detect copy number changes in tumors even in the presence of contaminating normal cell DNA...
  22. ncbi A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families
    Emanuel Yakobson
    Clinical Biochemistry Laboratory, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv 64239, Israel
    Eur J Hum Genet 11:288-96. 2003
    ..We conclude that the Val59Gly mutation is a major contributor to melanoma risk in the families under study and that it may derive from a single ancestral founder of Mediterranean (possibly Jewish) origin...
  23. ncbi Aberrant expression of pRb and p16(INK4), alone or in combination, indicates poor outcome after resection in patients with colorectal carcinoma
    Xing Cui
    Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata City, Japan
    Hum Pathol 35:1189-95. 2004
    ..994, P <0.0001, respectively). Most CRCs demonstrate aberrant expression of pRb and/or p16 at resectable stages. Aberrant expression of pRb and p16, alone and in combination, heralds poor prognosis in patients with CRC...
  24. ncbi The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association
    Joan A Murphy
    Vermont Cancer Center, Department of Microbiology and Molecular Genetics, University of Vermont, Burlington, Vermont 05401, USA
    Hum Mutat 24:296-304. 2004
    ..We describe the database structure, content, current uses, and potential implications (http://biodesktop.uvm.edu/perl/p16)...
  25. ncbi A melanoma-predisposing germline CDKN2A mutation with functional significance for both p16 and p14ARF
    Jamileh Hashemi
    Department of Oncology Pathology, Research Laboratory of Radiumhemmet, Cancer Center Karolinska, R8 03, Karolinska Hospital, S 171 76 Stockholm, Sweden
    Cancer Lett 180:211-21. 2002
    ..This partial functional defect may complement the clearly defective p16 del (62-69) mutant and thus contribute to melanoma development in patients carrying the 24bp deletion in CDKN2A...
  26. ncbi Melanoma and nonmelanoma skin cancer in patients with multiple tumours--evidence for new syndromes in a population-based study
    K Nielsen
    Department of Dermatology, University Hospital, S 221 85 Lund, Sweden
    Br J Dermatol 150:531-6. 2004
    ..g. nonmelanoma skin cancer (NMSC), were studied descriptively. So far the mutation 113insArg explains all CDKN2A-associated CMM in ethnic Swedes...
  27. ncbi Plutonium targets the p16 gene for inactivation by promoter hypermethylation in human lung adenocarcinoma
    Steven A Belinsky
    Lovelace Respiratory Research Institute, Lung Cancer Program, 2425 Ridgecrest Drive SE, Albuquerque, NM 87108, USA
    Carcinogenesis 25:1063-7. 2004
    ..Here we demonstrate that exposure to plutonium may elevate the risk for adenocarcinoma through specifically targeting the p16 gene for inactivation by promoter methylation...
  28. pmc Search for germline alterations in CDKN2A/ARF and CDK4 of 42 Jewish melanoma families with or without neural system tumours
    C Marian
    Service de Genetique, Institut Gustave Roussy, Villejuif, France
    Br J Cancer 92:2278-85. 2005
    ..We conclude that in the majority of Ashkenazi Jewish families, the genes tested are unlikely to be implicated in the predisposition to melanoma and associated neural system tumours...
  29. ncbi CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas
    J Hashemi
    Radiumhemmet, Department of Oncology Pathology, Karolinska Hospital, Stockholm, Sweden
    Cancer Res 60:6864-7. 2000
    ..We conclude that mutation screening of individuals with multiple primary melanomas is a useful strategy to identify new melanoma kindreds with CDKN2A germ-line mutations...
  30. ncbi Homozygous deletions of CDKN2A caused by alternative mechanisms in various human cancer cell lines
    Sascha Raschke
    Urologische Klinik, Heinrich Heine Universitat, Dusseldorf, Germany
    Genes Chromosomes Cancer 42:58-67. 2005
    ..Aberrant RAG-mediated recombination may be responsible in T-ALL, and exuberant DNA repair by nonhomologous end-joining is the likely prevailing mechanism in SCCHN, but a distinct mechanism in TCC and glioma remains to be elucidated...
  31. ncbi Aberrant DNA methylation of E-cadherin and p16 genes in rat lung adenocarcinomas induced by N-nitrosobis(2-hydroxypropyl)amine
    Ayumi Kato
    Department of Life Science, Laboratory of Cancer Biology and Bioinformatics, Faculty of Science and Engineering, Kinki University, 3 4 1, Kowakae, Higashiosaka, Osaka, Japan
    Mol Carcinog 45:106-11. 2006
    ..the involvement of aberrant DNA methylation in lung carcinogenesis by measuring expressions of E-cadherin and p16 genes, and their DNA methylation status in the 5' upstream region in rat lung adenocarcinomas induced by N-nitrosobis(..
  32. ncbi Molecular detection of p16 promoter methylation in the serum of recurrent colorectal cancer patients
    Hiroshi Nakayama
    Gastroenterological Surgery, Nagoya University Graduate School of Medicine, Showa Ku, Nagoya, Japan
    Int J Cancer 105:491-3. 2003
    ..These results suggested that MSP might be a sensitive and useful method to detect recurrent colorectal cancer in serum...
  33. ncbi Methylation of p15 and p16 genes in acute promyelocytic leukemia: potential diagnostic and prognostic significance
    C S Chim
    University Department of Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong
    J Clin Oncol 19:2033-40. 2001
    ..To investigate the frequency of p15 and p16 gene promoter methylation in acute promyelocytic leukemia (APL), and to define its value in the detection of minimal residual disease (MRD) and treatment prognostication...
  34. ncbi Frequent abnormalities of the p15 and p16 genes in mycosis fungoides and sezary syndrome
    Julia J Scarisbrick
    Skin Tumor Unit, St John s Institute Dermatology, St Thomas Hospital, Lambeth Palace Road, London, UK
    J Invest Dermatol 118:493-9. 2002
    ..The P15 and P16 genes are intricately linked on 9p21 and can be inactivated in melanoma and non-Hodgkin's lymphoma...
  35. ncbi Array-based comparative genomic hybridization analysis reveals recurrent chromosomal alterations and prognostic parameters in primary cutaneous large B-cell lymphoma
    Remco Dijkman
    Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands
    J Clin Oncol 24:296-305. 2006
    ..To evaluate the clinical relevance of genomic aberrations in primary cutaneous large B-cell lymphoma (PCLBCL)...
  36. ncbi Hypermethylation of the thrombospondin-1 gene is associated with poor prognosis in penile squamous cell carcinoma
    David Guerrero
    Biomedical Research Center, Navarra Health Service, Pamplona, Navarra, Spain
    BJU Int 102:747-55. 2008
    ..status in the promoter region of thrombospondin-1 (TSP-1), RAS association domain family 1A (RASSF1-A) and p16 genes, and the expression of TSP-1, CD31, p16 and p53 proteins in patients diagnosed with penile cancer, and the ..
  37. pmc A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL)
    Mark Harland
    Division of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Cancer Research UK Cancer Centre at Leeds, St James s University Hospital, Leeds, UK
    Eur J Cancer 44:1269-74. 2008
    ..The relatively low rate of CDKN2A mutation detection is not due to failure to detect mutations and implies the existence of other high penetrance melanoma susceptibility genes...
  38. pmc Continuous zebularine treatment effectively sustains demethylation in human bladder cancer cells
    Jonathan C Cheng
    Department of Urology, USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, California 90089 9181, USA
    Mol Cell Biol 24:1270-8. 2004
    ..Last, sequential treatment with 5-aza-2'-deoxycytidine followed by zebularine hindered the remethylation of the p16 5' region and gene resilencing, suggesting the possible combination use of both drugs as a potential anticancer regimen...
  39. ncbi The study of p16 and p15 gene methylation in head and neck squamous cell carcinoma and their quantitative evaluation in plasma by real-time PCR
    T S Wong
    Department of Surgery, The University of Hong Kong, PR, Hong Kong, China
    Eur J Cancer 39:1881-7. 2003
    ..The differential levels of methylated p16 and p15 DNA in plasma might be potential useful markers in screening high-risk populations for early HNSCC and monitoring their treatment response...
  40. ncbi Aberrant p16 promoter methylation in smokers and former smokers with nonsmall cell lung cancer
    Sonata Jarmalaite
    Department of Industrial Hygiene and Toxicology, Finnish Institute of Occupational Health, Helsinki, Finland
    Int J Cancer 106:913-8. 2003
    ..14%; P = 0.035). Taken together, our data suggest that analysis of promoter methylation in TSGs may provide a valuable biomarker for identification of groups with an elevated risk of cancer, such as smokers and ex-smokers...
  41. ncbi Epigenetic alterations in neuroendocrine tumors: methylation of RAS-association domain family 1, isoform A and p16 genes are associated with metastasis
    Lixia Liu
    Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA
    Mod Pathol 18:1632-40. 2005
    ..044). Our study shows that in neuroendocrine tumors epigenetic alterations vary by tumor subsite and clinicopathologic features, including age of onset, histopathologic type and metastasis status...
  42. ncbi p16(INK4a) and histology-specific methylation of CpG islands by exposure to tobacco smoke in non-small cell lung cancer
    D H Kim
    Department of Environmental Health, Harvard School of Public Health, 665 Huntington Avenue, Boston, Massachusetts 02115, USA
    Cancer Res 61:3419-24. 2001
    ..These findings suggest that methylation of CpG islands in tobacco-associated cancers occurs in a gene- and tissue-specific manner and is induced directly or indirectly by exposure to tobacco smoke in NSCLC...
  43. ncbi A single nucleotide polymorphism in the 3'untranslated region of the CDKN2A gene is common in sporadic primary melanomas but mutations in the CDKN2B, CDKN2C, CDK4 and p53 genes are rare
    R Kumar
    Department of Biosciences, Center for Nutrition and Toxicology, Karolinska Institute, Novum, Huddinge, Sweden
    Int J Cancer 95:388-93. 2001
    ..0001). Finally, the sequence analysis of genomic DNA isolated from T cell lymphocytes of healthy individuals exhibited that the codon reported as last of exon 2 of the CDKN2C gene is rather the first codon of exon 3...
  44. ncbi Genetic alterations in gallbladder adenoma, dysplasia and carcinoma
    Y T Kim
    Department of Internal Medicine, Seoul National University College of Medicine, Seoul, South Korea
    Cancer Lett 169:59-68. 2001
    ..Gene alterations of K-ras, p53, and p16 are important steps in the malignant changes of dysplasia. However, MI seems to have only a limited role in GB cancer development...
  45. ncbi Intraoperative molecular margin analysis in head and neck cancer
    David Goldenberg
    Department of Otolaryngology Head and Neck Surgery, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Arch Otolaryngol Head Neck Surg 130:39-44. 2004
    ..Tumor-specific molecular alterations in surgical margins have been shown to predict risk of local recurrence. However, assays used for these analyses are time-consuming and therefore cannot be used in the intraoperative setting...
  46. ncbi Abnormalities of tumor suppressor gene p16 in pancreatic carcinoma: immunohistochemical and genetic findings compared with clinicopathological parameters
    Koushiro Ohtsubo
    Department of Internal Medicine and Medical Oncology, Cancer Research Institute, Kanazawa University, 13 1 Takaramachi, Kanazawa 920 8641, Japan
    J Gastroenterol 38:663-71. 2003
    ....
  47. ncbi A common variant on chromosome 9p21 affects the risk of myocardial infarction
    Anna Helgadottir
    deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Science 316:1491-3. 2007
    ..64 times as great as that of noncarriers. The corresponding risk is 2.02 times as great for early-onset cases. The population attributable risk is 21% for MI in general and 31% for early-onset cases...
  48. pmc Cooperative effects of INK4a and ras in melanoma susceptibility in vivo
    L Chin
    Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Genes Dev 11:2822-34. 1997
    ..In addition, this mouse model affords a system in which to identify and analyze pathways involved in tumor progression against the backdrop of genetic alterations encountered in human melanomas...
  49. ncbi Molecular processes of chromosome 9p21 deletions causing inactivation of the p16 tumor suppressor gene in human cancer: deduction from structural analysis of breakpoints for deletions
    Takashi Kohno
    Biology Division, National Cancer Center Research Institute, Tokyo, Japan
    DNA Repair (Amst) 5:1273-81. 2006
    ..Further structural analysis of other hot spots of chromosomal DNA breaks as well as the evaluation of the activity and specificity of NHEJ in human cells will elucidate the mechanisms of chromosome interstitial deletions in human cells...
  50. pmc p16INK4a is a prognostic marker in resected ductal pancreatic cancer: an analysis of p16INK4a, p53, MDM2, an Rb
    Berthold Gerdes
    Department of Visceral, Thoracic, and Vascular Surgery, Philipps University of Marburg, Marburg, Germany
    Ann Surg 235:51-9. 2002
    ..To identify the prognostic relevance of the G1/S cell cycle regulator genes p16INK4a, p53, MDM2, and Rb in patients with resected ductal pancreatic cancer (PC)...
  51. pmc Hypermethylation of p16INK4a in Korean non-small cell lung cancer patients
    Young Seoub Hong
    Department of Preventive Medicine, College of Medicine, Dong A University, Busan, Korea
    J Korean Med Sci 22:S32-7. 2007
    ..Other clinicopathological characteristics, including age, sex, tumor stage, and histologic type were not found to be correlated with p16(INK4a) methylation...
  52. ncbi Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group
    N Soufir
    Unité des Marqueurs Génétiques des Cancers, Institut Gustave Roussy IGR, 39 rue Camille Desmoulins, 94805 Villejuif Cedex, France
    Hum Mol Genet 7:209-16. 1998
    ..In summary, our results show frequent involvement of the p16 gene in familial melanoma and confirm the role of the CDK4 gene as a melanoma-predisposing gene...
  53. ncbi The prognostic relevance of p16 inactivation in head and neck cancer
    Sven Koscielny
    ENT Department, Friedrich Schiller University Jena, Jena, Germany
    ORL J Otorhinolaryngol Relat Spec 69:30-6. 2007
    ..The inactivation of the tumor suppressor gene p16 plays a role in the carcinogenesis of head and neck cancer...
  54. ncbi Genetics of melanoma predisposition
    Nicholas K Hayward
    Queensland Institute of Medical Research, 300 Herston Rd, Herston, QLD 4029, Australia
    Oncogene 22:3053-62. 2003
    ..Hence, melanoma is turning out to be an excellent paradigm for studying gene-gene and gene-environment interactions...
  55. ncbi Inhibition of colon tumor progression and angiogenesis by the Ink4a/Arf locus
    Steven L Gibson
    Department of Medicine, Gastrointestinal Division, Department of Genetics, and Abramson Cancer Center, Philadelphia, Pennsylvania, USA
    Cancer Res 63:742-6. 2003
    ..The enhanced vascularity of the -/- tumors is particularly significant in light of the clinical importance of this property in the detection, recurrence, and therapy of colon tumors...
  56. ncbi Germline mutations of the CDKN2 gene in UK melanoma families
    M Harland
    ICRF Cancer Medicine Research Unit, St James s University Hospital, Beckett Street, Leeds LS9 7TF, UK
    Hum Mol Genet 6:2061-7. 1997
    ..No mutations were detected in exon 2 of CDK4, suggesting that causal mutations in this gene are uncommon. The penetrance of these mutant CDKN2 genes is not yet established, nor is the risk of non-melanoma cancer to gene carriers...
  57. ncbi Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer
    Tadeusz Debniak
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 110:558-62. 2004
    ..The results revealed a paucity of mutations in CDKN2A/ARF, suggesting that in the Polish population this gene does not contribute significantly to either FMM or MM within the context of CFA...
  58. pmc p16(Ink4a) inhibits histologic progression and angiogenic signaling in min colon tumors
    Steven L Gibson
    Department of Medicine, Cell and Molecular Biology Graduate Group, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6140, USA
    Cancer Biol Ther 4:1389-94. 2005
    ..01). Exogenous p16 expression in human colon tumor cells in vitro inhibited VEGF production. These results suggest that p16 constrains colon tumor progression, in part through inhibiting angiogenic signaling...
  59. ncbi Persistence of tumor DNA in plasma of breast cancer patients after mastectomy
    Jose M Silva
    Department of Medical Oncology, Clinica Puerta de Hierro, Madrid, Spain
    Ann Surg Oncol 9:71-6. 2002
    ..We investigated tumor DNA changes before and after mastectomy in the plasma of breast cancer patients with no disseminated disease and eventually investigated these changes' relationship to specific pathological parameters of the tumors...
  60. ncbi The transcriptional repressor of p16/Ink4a, Id1, is up-regulated in early melanomas
    D Polsky
    Oncology Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21231-1000, USA
    Cancer Res 61:6008-11. 2001
    ..These data suggest a role for Id1 in regulating p16/Ink4a expression in early melanomas and demonstrate that later genetic changes may provide for irreversible loss of p16 expression in advanced stages of this tumor...
  61. ncbi New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment
    Caroline Kannengiesser
    Service de Genetique, Institut Gustave Roussy, Villejuif, France
    Genes Chromosomes Cancer 46:751-60. 2007
    ..This observation suggests that there is a need for reconsideration of the hypothesis that levodopa may play a role in melanoma development, at least when in the context of a high-risk genetic background...
  62. ncbi Aberrant promoter hypermethylation of multiple genes in head and neck squamous cell carcinoma
    Sajeev K Puri
    Department of Otolaryngology Head and Neck Surgery, University of Arkansas for Medical Sciences, Little Rock, Arkansas 72205, USA
    Am J Otolaryngol 26:12-7. 2005
    ..The aim of this study is to characterize and correlate, with clinical parameters, the promoter methylation profile of DNA repair genes, hMLH1 and O6-methylguanine-DNA methyltransferase (MGMT), and tumor-suppressor gene p16...
  63. ncbi A novel type of deletion in the CDKN2A gene identified in a melanoma-prone family
    Stian Knappskog
    Department of Medicine, Section of Oncology, Haukeland University Hospital, N 5021 Bergen, Norway
    Genes Chromosomes Cancer 45:1155-63. 2006
    ....
  64. ncbi The P48T germline mutation and polymorphism in the CDKN2A gene of patients with melanoma
    J Huber
    Departamento de Genetica, Faculdade de Medicina de Ribeirao Preto, Universidade de Sao Paulo, Sao Paulo, SP, Brazil
    Braz J Med Biol Res 39:237-41. 2006
    ..8%) or 540 C/T (6/27.3%), in the 3' untranslated region of exon 3. This result reinforces the idea that these rare polymorphic alleles have been significantly associated with the risk of developing melanoma...
  65. ncbi Promoter methylation status of the MGMT, hMLH1, and CDKN2A/p16 genes in non-neoplastic mucosa of patients with and without colorectal adenomas
    Chuanzhong Ye
    Department of Medicine, Vanderbilt Ingram Cancer Center, Nashville, Tennessee, USA
    Oncol Rep 16:429-35. 2006
    ..The methylation status of these genes in rectal mucosa biopsies detected by MSP assays may not distinguish between patients with and without adenomas in the colon...
  66. ncbi A novel L94Q mutation in the CDKN2A gene in a melanoma kindred
    Magdalena Avbelj
    University Medical Centre, University Children s Hospital, Ljubljana, Slovenia, and Institute of Oncology, Ljubljana, Slovenia
    Melanoma Res 13:567-70. 2003
    ..The penetrance of the novel mutation was shown to be incomplete. Functional importance of the mutation was assumed from the protein p16 structure...
  67. ncbi Role of the CDKN2A locus in patients with multiple primary melanomas
    Susana Puig
    Dermatology Department, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain
    J Clin Oncol 23:3043-51. 2005
    ..We have studied a consecutive case series of patients with multiple primary melanoma (MPM) for the involvement of the melanoma susceptibility loci CDKN2A and CDK4...
  68. ncbi Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study
    C Vajdic
    National Centre for HIV Epidemiology and Clinical Research, Darlinghurst, NSW, Australia
    Melanoma Res 13:409-13. 2003
    ..Our findings argue against an important predisposing effect of the MC1R and CDKN2A genes for ocular melanoma...
  69. ncbi BRAF alterations are associated with complex mutational profiles in malignant melanoma
    Maria Daniotti
    Unit of Melanoma Genetics, Istituto Nazionale per lo Studio e la Cura dei Tumori, Via Venezian 1, 20133 Milan, Italy
    Oncogene 23:5968-77. 2004
    ....
  70. ncbi Evidence for the role of aberrant DNA methylation in the pathogenesis of Lynch syndrome adenomas
    Andrew Kaz
    Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA
    Int J Cancer 120:1922-9. 2007
    ..MLH1 methylation in the Lynch syndrome adenomas suggests gene methylation might have a role in the initiation of these neoplasms...
  71. ncbi Selectively advantageous mutations and hitchhikers in neoplasms: p16 lesions are selected in Barrett's esophagus
    Carlo C Maley
    Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
    Cancer Res 64:3414-27. 2004
    ..Virtually all of the other lesion expansions, including microsatellite shifts, could be explained as hitchhikers on p16 lesion clonal expansions. These techniques can be applied to any neoplasm...
  72. pmc MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability
    K B Niendorf
    Center for Cancer Risk Analysis, Massachusetts General Hospital, Boston, MA 02114, USA
    J Med Genet 43:501-6. 2006
    ..Heritable alterations in CDKN2A account for a subset of familial melanoma cases although no robust method exists to identify those at risk of being a mutation carrier...
  73. ncbi Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees
    Valerie Chaudru
    Institut National de la Sante et de la Recherche Medicale, Université d Evry, EMI 0006, Tour Evry 2, 523 Place des Terrasses de l Agora, 91034 Evry, France
    Cancer Epidemiol Biomarkers Prev 14:2384-90. 2005
    ..21; P = 0.03] and dysplastic nevi (OR, 2.93; P < 0.01). Such results may have important consequences to improve the prediction of melanoma risk in families...
  74. ncbi Aberrant methylation of EDNRB and p16 genes in hepatocellular carcinoma (HCC) in Taiwan
    Li Sung Hsu
    Institute of Biochemistry and Biotechnology, Chung Shan Medical University, Taichung, Taiwan R O C
    Oncol Rep 15:507-11. 2006
    ..polymerase chain reaction (MS-PCR) was performed to analyze the promoter methylation status of the EDNRB and p16 genes in tumors and paired non-tumor liver portions of 34 HCC patients...
  75. ncbi Molecular processes of chromosome 9p21 deletions in human cancers
    Shigeru Sasaki
    Biology Division, National Cancer Center Research Institute, Tokyo 104 0045, Japan
    Oncogene 22:3792-8. 2003
    ..It was also indicated that two broken DNA ends are rejoined by nonhomologous end-joining repair, preferentially utilizing microhomologies of DNA ends, in the occurrence of 9p21 deletions...
  76. ncbi Analysis of mutations in the p16/CDKN2A gene in sporadic and familial melanoma in the Polish population
    Katarzyna Lamperska
    Department of Cancer Immunology, K Marcinkowski University of Medical Sciences, GreatPoland Cancer Center, Poznan
    Acta Biochim Pol 49:369-76. 2002
    ....
  77. ncbi Gene-covariate interaction between dysplastic nevi and the CDKN2A gene in American melanoma-prone families
    A M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20892 7236, USA
    Cancer Epidemiol Biomarkers Prev 9:889-94. 2000
    ..8) versus those with CDKN2A mutations (OR, 3.3; 95% confidence interval, 1.1-10.0; complete-cases method). The CDKN2A-DN interaction illustrates the complex etiology of melanoma and needs to be confirmed in a larger sample of families...
  78. ncbi The genes and genetics of malignant melanoma
    Peter Gibbs
    Royal Melbourne Hospital, Parkville, Victoria, Australia
    J Cutan Med Surg 6:229-35. 2002
    ..However, these observations are of limited relevance to clinical practice as the risk associated with each factor is individually modest and the characteristics of these variables lack precision when applied to a particular individual...
  79. ncbi Infrequent p16/CDKN2 alterations in squamous cell carcinoma of the oesophagus
    Marie Agnès Giroux
    Service d Hepatogastroenterologie, Hopital de la Cavale Blanche, Brest, France
    Eur J Gastroenterol Hepatol 14:15-8. 2002
    ..The relatively low rate of p16 mutation compared with the frequency of LOH suggests the possible involvement of another tumour suppressor gene located on chromosome 9 in oesophageal carcinogenesis...
  80. ncbi Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors
    W G Yarbrough
    Department of Surgery, Division of Otolaryngology Lineberger Comprehensive Cancer Center, Chapel Hill, NC 27599 7295, USA
    J Natl Cancer Inst 91:1569-74. 1999
    ..Because the function of the products of these naturally occurring mutants has not been fully explored, we investigated the functional activities of a wide range of naturally occurring p16 mutant proteins...
  81. ncbi Mutation analysis of the CDKN2A promoter in Australian melanoma families
    P M Pollock
    Joint Experimental Oncology Program of the Queensland Institute of Medical Research, University of Queensland, and the Queensland Cancer Fund, P.O. Royal Brisbane Hospital, Brisbane, Australia
    Genes Chromosomes Cancer 32:89-94. 2001
    ..The lack of CDKN2A promoter mutations and the absence of transcriptional silencing in the germ line of this cohort of families suggest that mutations in the promoter and 5' UTR play a very limited role in melanoma predisposition...
  82. ncbi Quantitative analysis of aberrant p16 methylation using real-time quantitative methylation-specific polymerase chain reaction
    Y M Lo
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories
    Cancer Res 59:3899-903. 1999
    ..Real-time quantitative MSP may have applications in elucidating diverse biological processes involving DNA methylation and may become a valuable diagnostic tool for detecting tumor-associated epigenetic changes in cancer patients...
  83. ncbi Hypermethylation of p16 gene promoter correlates with loss of p16 expression that results in poorer prognosis in esophageal squamous cell carcinomas
    S Fujiwara
    Department of Oncological Science Surgery 2, Oita University Faculty of Medicine, Oita, Japan
    Dis Esophagus 21:125-31. 2008
    ..The present results may lead to the development of new therapeutic strategies, such as p16(INK4A) gene therapy, to treat patients with ESCC...
  84. ncbi Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families
    Valerie Chaudru
    Institut National de la Santé et Recherche Médicale et Université d Evry, Evry, France
    J Natl Cancer Inst 96:785-95. 2004
    ..We assessed the role of these factors on melanoma risk in two types of families: families ascertained through melanoma probands but unselected by family history and melanoma-prone families...
  85. pmc Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
    Science 316:1336-41. 2007
    ..The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes...
  86. ncbi Methylation of the MGMT and p16 genes in sporadic colorectal carcinoma and corresponding normal colonic mucosa
    Lukasz Krakowczyk
    Department of General Biology, Zabrze, Medical University of Silesia in Katowice, Katowice, Poland
    Med Sci Monit 14:BR219-25. 2008
    ..In our study we analyzed methylation of CpG islands in the MGMT and p16 genes in sporadic colorectal cancers and normal corresponding colonic mucosa.
  87. ncbi CDKN2A mutations in multiple primary melanomas
    J Monzon
    Institute of Medical Sciences, University of Toronto, ON, Canada
    N Engl J Med 338:879-87. 1998
    ..We hypothesized that this predisposition might be due to germ-line CDKN2A mutations...
  88. ncbi Assaying DNA methylation based on high-throughput melting curve approaches
    Dayna T Akey
    Center for Genome Information, Department of Environmental Health, University of Cincinnati, Cincinnati, Ohio 45267, USA
    Genomics 80:376-84. 2002
    ..We demonstrate that McCOBRA and McMSP provide several advantages over existing methods, as they are simple, accurate, and high-throughput, which makes them widely applicable to large-scale methylation studies...
  89. ncbi The CpG island methylator phenotype is not associated with a personal or family history of cancer
    Robyn Lynne Ward
    Department of Medical Oncology, St Vincent s Hospital, Darlinghurst, New South Wales, Australia
    Cancer Res 64:7618-21. 2004
    ..There is no justification for altering the personal or family cancer screening recommendations on the basis of tumor CpG island methylator phenotype status...
  90. ncbi CDKN2A mutations in Scottish families with cutaneous melanoma: results from 32 newly identified families
    J Lang
    Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children and University of Glasgow, Glasgow, Scotland, U K
    Br J Dermatol 153:1121-5. 2005
    ..Up to 5% of patients with melanoma have a family history of a first-degree relative also being affected...
  91. ncbi Hypermethylation of p16INK4a in Chinese lung cancer patients: biological and clinical implications
    Yong Liu
    Department of Chemical Etiology and Carcinogenesis, Cancer Institute Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100021, P R China
    Carcinogenesis 24:1897-901. 2003
    ..0% (46/50) of the lung cancer patients studied, offering an effective means of early detection of lung cancer...
  92. pmc CpG island methylation in colorectal adenomas
    A Rashid
    Department of Pathology, University of Texas M D Anderson Cancer Center, Houston, Texas 77030 4095, USA
    Am J Pathol 159:1129-35. 2001
    ..Methylation is distinct from microsatellite instability and develops in individual adenomas rather than resulting from a field defect in an individual patient...
  93. ncbi Hypermethylation of the p16 gene promoter in pterygia and its association with the expression of DNA methyltransferase 3b
    Pei Liang Chen
    Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan
    Mol Vis 12:1411-6. 2006
    ..The purpose of this study was to investigate hypermethylation of the p16 promoter in pterygia and the relationship between this hypermethylation and the expression of p16 and DNA methyltransferase 3b (DNMT3b) proteins...
  94. ncbi Susceptibility of nonpromoter CpG islands to de novo methylation in normal and neoplastic cells
    C Nguyen
    Department of Biochemistry and Molecular Biology, University of Southern California/Norris Comprehensive Cancer Center, Keck School of Medicine of the USC, Los Angeles, USA
    J Natl Cancer Inst 93:1465-72. 2001
    ..Subsequent selection of cells with a growth advantage conferred by spread of methylation into and inactivation of a particular promoter might then contribute to the genesis of a specific type of cancer...
  95. ncbi Molecular analysis of the INK4A and INK4B gene loci in human breast cancer cell lines and primary carcinomas
    M Bisogna
    Department of Surgery, The Breast Cancer Research Laboratory, Memorial Sloan-Kettering Cancer Center, 10021, New York, NY, USA
    Cancer Genet Cytogenet 125:131-8. 2001
    ....
  96. ncbi Characterization of a multiple epigenetic marker panel for lung cancer detection and risk assessment in plasma
    Han Shui Hsu
    Division of Thoracic Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan
    Cancer 110:2019-26. 2007
    ..Methylation patterns may be useful biomarkers of cancer detection and risk assessment...
  97. ncbi Loss of function of p16 gene and prognosis of pulmonary adenocarcinoma
    Ryota Tanaka
    Department of Surgery II, Institute of Medical Sciences, Kyorin University, Tokyo, Japan
    Cancer 103:608-15. 2005
    ..Expression of the tumor suppressor gene p16 in pulmonary adenocarcinoma decreased, mainly as a result of aberrant methylation of the CpG islands of the promoter region...
  98. ncbi Genetic and epigenetic alteration profiles for multiple genes in salivary gland carcinomas
    Munehiro Kishi
    Department of Pathology, Nara Medical University, 634 8521, 840 Shijo Cho, Kashihara, Nara, Japan
    Oral Oncol 41:161-9. 2005
    ..Thus epigenetic events including methylation and acetylation as well as genetic alterations may have important contributions...
  99. ncbi Oligonucleotide DNA chips are useful adjuncts in epigenetic studies of glioblastomas
    Bomi Kim
    Department of Pathology, Seoul National University, Korea
    Neuropathology 26:409-16. 2006
    ..The devised MSO DNA chip is a useful tool for studies on methylation...
  100. ncbi p14ARF deletion and methylation in genetic pathways to glioblastomas
    M Nakamura
    International Agency for Research on Cancer, Lyon, France
    Brain Pathol 11:159-68. 2001
    ....
  101. ncbi Epigenetic abnormalities in cutaneous squamous cell carcinomas: frequent inactivation of the RB1/p16 and p53 pathways
    K Murao
    Department of Dermatology, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan
    Br J Dermatol 155:999-1005. 2006
    ..However, the methylation profile of these regions in cutaneous squamous cell carcinomas (SCCs) has not been well studied...

Research Grants33

  1. Validation studies of circulating methylation biomarkers
    Stephen Meltzer; Fiscal Year: 2005
    ..Specifically, these data show that methylated alleles of the APC, HPP1 and p16 genes can be detected in the bloodstream of esophageal cancer patients...
  2. P16 GENE FAMILY IN HEALTH AND DISEASE
    Gregory Hannon; Fiscal Year: 1999
    ..The p16 family currently contains two members, p16INK4A and p15INK4B. The p15 and p16 genes are tandemly arrayed at a site of frequent chromosomal abnormality in human tumors (9p21), implicating them as ..
  3. DNA METHYLATION IN ENDOMETRIAL CANCER
    Soma Das; Fiscal Year: 2000
    ..The PTEN and p16 genes are both good candidates for hypermethylation analysis in endometrial carcinoma, as mutations in the PTEN gene ..
  4. Role of microRNAs in genetic mouse models of pancreatic cancer
    Murray Korc; Fiscal Year: 2010
    ..We have established several transgenic murine strains that bear conditional mutations in K-ras and/or p16 genes, the most frequently mutated genes in PDAC, and we propose to conduct a functional analysis of miRNAs aimed at ..
  5. MARKERS FOR LUNG CARCINOGENESIS IN BRONCHIAL EPITHELIUM
    Steven Belinsky; Fiscal Year: 2001
    ..f., simply markers of exposure) and help identify genetic alterations that are candidate markers of respiratory carcinogenesis. ..
  6. Gene Methylation and Therapeutic Response in Lung Cancer
    Steven Belinsky; Fiscal Year: 2005
    ..The validation of these genes as biomarkers of lung cancer risk and their detection in sputum and/or serum could ultimately support chemoprevention trials for preventing lung cancer. ..
  7. TUMOR SUPPRESSOR GENE METHYLATION IN LUNG ADENOCARCINOMA
    Steven A Belinsky; Fiscal Year: 2010
    ..Transient transfection of minimized promoters into cell lines with an endogenously active or silenced gene will be used to elucidate the sequence of changes involved in repression of promoter activity. REVISED: July 7, 2005 ..
  8. Skin Manifestations of Tuberous Sclerosis
    Jack Arbiser; Fiscal Year: 2009
    ..Specific Aim 3. To determine whether dysregulation of p16ink4a and PTCH (patched) acts as a modifier of theTS phenotype in transgenic mice expressing dominant negative tuberin. ..
  9. PHENOTYPIC AND PSYCHOSOCIAL STUDY OF THE L1307K MUTATION
    Henry Lynch; Fiscal Year: 2004
    ....
  10. MOLECULAR MODELING OF DIAGNOSIS AND PROGNOSIS IN HNSCC
    Maria Worsham; Fiscal Year: 2009
    ..abstract_text> ..
  11. BENIGN BREAST DISEASE--MOLECULAR DIFFERENTIATION OF RISK
    Maria Worsham; Fiscal Year: 2001
    ....
  12. Phase I study of 5-aza-2?-deoxycitidine in acute lymphocytic leukemia
    Guillermo Garcia Manero; Fiscal Year: 2008
    ..In this proposal, we plan to develop a new form of low-dose chemotherapy, decitabine, for these patients. Early results indicate that this is active and safe. [unreadable] [unreadable] [unreadable]..
  13. DNA Methylation in Colon Cancer Metastasis
    Jean Pierre Issa; Fiscal Year: 2008
    ..abstract_text> ..
  14. Diet and DNA methylation in colon mucosa and adenomas
    Jean Pierre Issa; Fiscal Year: 2007
    ..These studies should provide definitive information on interactions between diet and DNA methylation in human colorectal mucosa and cancer. [unreadable] [unreadable]..
  15. Statistical Methods for Identifying Clonal Tumors
    Colin B Begg; Fiscal Year: 2011
    ....
  16. MOLECULAR MECHANISMS OF HUMAN BLADDER CARCINOGENESIS
    Peter Jones; Fiscal Year: 2006
    ..The participating investigators have a considerable history of collaboration in the areas of translational research in the field of bladder cancer and these interactions will be formalized and enhanced by this Program Project Grant. ..
  17. ASPL TFE3 fusion in human cancers
    Marc Ladanyi; Fiscal Year: 2006
    ..3->qter; and finally analyze selected candidate genes in the same region for inactivating mutations. ..
  18. Role of Smad proteins in cell growth regulation
    Fang Liu; Fiscal Year: 2006
    ..We anticipate that the findings of this application will shed new insights into the mechanisms of tumorigenesis. ..
  19. Phase1/11 study of 5-aza-2'-deoxycytidine and valproic *
    Guillermo Garcia Manero; Fiscal Year: 2005
    ..Decitabine will be generously provided by SuperGen (r). Valproic acid is an FDA approved anti-convulsant. ..
  20. UNIQUE TISSUE AND TUMOR PROCESSING FACILITY
    Adi Gazdar; Fiscal Year: 2003
    ..A charge back fee system will recover some of the costs and will be used for future expansion of the Facility, which is anticipated to become self sustaining after five years. ..
  21. METHYLATION PROFILING IN COLORECTAL CANCER
    Jean Pierre Issa; Fiscal Year: 2003
    ..Ultimately, this work aims at establishing that methylation profiling may carry the same clinical implications as that already established for genetic profiling in neoplasia. ..
  22. Neoplasia and Methylated CpG Islands Amplification
    Jean Pierre Issa; Fiscal Year: 2004
    ..Ultimately, methylation profiling may prove very valuable in identifying subsets of patients with distinct clinical courses and response to specific therapeutic interventions, including using methylation inhibitors. ..
  23. Cell Cycle Controlling Genes in Adult Acute Lymphoma
    Guillermo Garcia Manero; Fiscal Year: 2005
    ..abstract_text> ..
  24. MOLECULAR PATHOGENESIS OF MALIGNANT MELANOMA
    Lynda Chin; Fiscal Year: 2002
    ....
  25. Estimating Cancer Risks of Rare Genetic Variants
    MARINELA contact CAPANU; Fiscal Year: 2010
    ..The research will involve hierarchical statistical modeling, a technique that aggregates the evidence about lots of rare mutations to increase the ability to predict the effects of each mutation individually. ..
  26. The Pathophysiology of CMT2A in Cell and Animal Models
    Stephan Zuchner; Fiscal Year: 2010
    ..3) There is no treatment available for axonal CMT patients, but recent studies based on mouse models for demyelinating neuropathies revealed for the first time promising results for future treatment. ..
  27. Disclosure of Genetic Risk for Alzheimer's Disease
    Scott Roberts; Fiscal Year: 2007
    ..g., race, provider profession). Study findings will inform the development and implementation of genetic risk assessment programs across numerous disease contexts. [unreadable] [unreadable] [unreadable]..
  28. Genomic & Genetic Characterization of Amplicons in GBMs
    Lynda Chin; Fiscal Year: 2007
    ..The highest potential candidate glioma oncogene will be further validated by rigorous in vivo transgenesis study. ..
  29. CHROMOSOME ALTERATIONS IN BARRETT'S ESOPHAGUS
    THOMAS PAULSON; Fiscal Year: 2005
    ..The results from these analyses will be of interest to both clinical and basic researchers in studying EA and other cancers. ..
  30. Molecular And Genetic Analysis Of Autosomal Dominant Spastic Paraplegia
    Stephan Zuchner; Fiscal Year: 2011
    ..We strongly believe that only such an integrated approach - clinical, genetic, and molecular/functional - will yield significant progress in the understanding of HSP. ..
  31. Epidemiologic Parameters of Rare Cancer Risk Factors
    Colin Begg; Fiscal Year: 2005
    ..All of these aims are motivated by an international study of the genetic epidemiology of melanoma that is currently in progress. ..
  32. Minicomputer Upgrade for the Clinical Resarch Database
    Colin Begg; Fiscal Year: 2002
    ..This proposal is a request for funds to upgrade the hardware platform once again to maintain the performance of the system in the face of these rapidly increasing demands. ..
  33. A Method for Validating Gene - Disease Associations
    Colin Begg; Fiscal Year: 2004
    ..abstract_text> ..