CDKN2A: The IVS2-105A/G Intronic Mutation Found in an Italian Patient Affected by Eight Primary Melanomas  Silvia Majore, Caterina Catricalà, Francesco.

Slides:



Advertisements
Similar presentations
Francesca Capon  Journal of Investigative Dermatology 
Advertisements

Next-Generation Sequencing: Methodology and Application
Liisa Väkevä, Annamari Ranki  Journal of Investigative Dermatology 
Clinical Snippets Journal of Investigative Dermatology
Raymond Barnhill, Katrina Dy, Claire Lugassy 
A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis  Celia Moss, Amalia Martinez-Mir, HaMut.
Kavitha K. Reddy  Journal of Investigative Dermatology 
BRAF Mutations in Multiple Sebaceous Hyperplasias of Patients Belonging to MYH- Associated Polyposis Pedigrees  Giovanni Ponti, Tiziana Venesio, Lorena.
Microsatellite Instability in Benign Skin Lesions in Hereditary Non-Polyposis Colorectal Cancer Syndrome  Victoria J. Swale, Anthony G. Quinn, Veronique.
Databases for Clinical Research
Recent Trends in Incidence of Cutaneous Melanoma among US Caucasian Young Adults  Mark P. Purdue, Laura E. Beane Freeman, William F. Anderson, Margaret.
Activation of a Cryptic Splice Site of PTEN and Loss of Heterozygosity in Benign Skin Lesions in Cowden Disease  Stephen J. Meltzer, Manfred Wolter  Journal.
Robert S. Stern  Journal of Investigative Dermatology 
Circulating Tumor Cells and Melanoma Progression
Andrew Rowan, Ian Tomlinson  Journal of Investigative Dermatology 
Irwin Freedberg, Odysseus for Our Generation
A Recurrent Intragenic Deletion Mutation in DSG4 Gene in Three Pakistani Families with Autosomal Recessive Hypotrichosis  Muhammad Arshad Rafiq, Muhammad.
Francois le Pelletier, Anne Janin  Journal of Investigative Dermatology 
Langerhans Cells Integrated into Human Reconstructed Epidermis Respond to Known Sensitizers and Ultraviolet Exposure  Valérie Facy, Virginie Flouret,
High Levels of Ultraviolet B Exposure Increase the Risk of Non-Melanoma Skin Cancer in Psoralen and Ultraviolet A-Treated Patients  Jean Lee Lim, Robert.
A Novel Point Mutation Affecting the Tyrosine Kinase Domain of the TRKA Gene in a Family with Congenital Insensitivity to Pain with Anhidrosis  Shinichi.
Clinical Snippets Journal of Investigative Dermatology
Minutes of the Board of Directors Meeting
Star Trek Publishing Journal of Investigative Dermatology
KIT in Melanoma: Many Shades of Gray
Bim Expression Is Reduced in Human Cutaneous Melanomas
Lopa M. Das, Kurt Q. Lu  Journal of Investigative Dermatology 
Journal of Investigative Dermatology
Journal of Investigative Dermatology 
A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal Dysplasia  Noriaki Aoki, Kaoru Ito, Toshiaki Tachibana,
Society for Investigative Dermatology 2010 Meeting Minutes
Journal of Investigative Dermatology
Democratizing the Clinical Trials Agenda in Dermatology
BJD Editor's Choice Journal of Investigative Dermatology
Cells of Origin in Skin Cancer
Research Snippets Journal of Investigative Dermatology
Clinical Snippets Journal of Investigative Dermatology
Journal of Investigative Dermatology
How Much Sun Protection Is Needed
Guang Yang, Kristin Baker Niendorf, Hensin Tsao 
Genetic Influences on Human Body Odor: From Genes to the Axillae
Novel CDKN2A Mutations Detected in Western Swedish Families with Hereditary Malignant Melanoma  Anna Erlandson, Frida Appelqvist, Ann-Marie Wennberg,
Metabolic Vulnerability in Melanoma: A ME2 (Me Too) Story
Research Snippets from the British Journal of Dermatology
Melanocyte Regeneration in Vitiligo Requires WNT beneath their Wings
Torsten Zuberbier, Beate M. Henz 
Kari Hemminki, Hong Zhang, Kamila Czene 
TLR3: A Receptor that Recognizes Cell Injury Is Essential for Permeability Barrier Homeostasis Following UV Irradiation  Kenneth R. Feingold  Journal.
25 Years of Epidermal Stem Cell Research
Clinical and Molecular Characterization of Patients at Risk for Hereditary Melanoma in Southern Brazil  Patricia Ashton-Prolla, Lucio Bakos, Gerson Junqueira,
Journal of Investigative Dermatology
Billy R. Wooten  Journal of Investigative Dermatology 
Research Snippets Journal of Investigative Dermatology
Journal of Investigative Dermatology
Conceptual Issues in Measuring the Burden of Skin Diseases
Marie-Louise T. Johnson 
CDKN2A and MC1R Mutations in Patients with Sporadic Multiple Primary Melanoma  Ketty Peris, Maria Concetta Fargnoli, Alessia Pacifico, Tiziana Surrenti,
Failure to Detect Differences in Proliferation Status of Nevi from CDKN2A Mutation Carriers and Non-Carriers  Scott R. Florell, Kenneth M. Boucher, Joseph.
Arun Kumar, Satish C. Girimaji, Mahesh R. Duvvari, Susan H. Blanton 
Christian Hallermann, Bastian Gunawan, Hans Peter Bertsch 
Consequences of Psychological Distress in Adolescents with Acne
Ellen Pfendner, Jouni Uitto  Journal of Investigative Dermatology 
Journal of Investigative Dermatology
Journal of Investigative Dermatology
Journal of Investigative Dermatology
Epidermolysis Bullosa: The Expanding Mutation Database
Is Screening of the Candidate Gene Necessary in Unrelated Partners of Members of Families with Herlitz Junctional Epidermolysis Bullosa?  Alfred Klausegger,
Excess Cancer Mortality in Six Dutch Pedigrees with the Familial Atypical Multiple Mole- Melanoma Syndrome from 1830 to 1994  Elysée T.M. Hille, Erik van.
Innate Immunity Stimulates Permeability Barrier Homeostasis
Richard A. Spritz  Journal of Investigative Dermatology 
Presentation transcript:

CDKN2A: The IVS2-105A/G Intronic Mutation Found in an Italian Patient Affected by Eight Primary Melanomas  Silvia Majore, Caterina Catricalà, Francesco Binni, Paola De Simone, Laura Eibenschutz, Paola Grammatico  Journal of Investigative Dermatology  Volume 122, Issue 2, Pages 450-451 (February 2004) DOI: 10.1046/j.0022-202X.2004.22222.x Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Patient's family pedigree. The patient (proband) is individual III:2. His cousin (III:5) died at age 28 from lung metastasis of unknown origin. Genotypes are shown below various individuals, with CDKN2A genotype above and MC1R below. Journal of Investigative Dermatology 2004 122, 450-451DOI: (10.1046/j.0022-202X.2004.22222.x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Chromatogram showing the IVS2-105A/G CDKN2A variant. The heterozygous A/G peak is easily detected. Journal of Investigative Dermatology 2004 122, 450-451DOI: (10.1046/j.0022-202X.2004.22222.x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions