CDKN2A and MC1R Mutations in Patients with Sporadic Multiple Primary Melanoma  Ketty Peris, Maria Concetta Fargnoli, Alessia Pacifico, Tiziana Surrenti,

Slides:



Advertisements
Similar presentations
Germline and Somatic Mutations of the STK11/LKB1 Peutz-Jeghers Gene in Pancreatic and Biliary Cancers  Gloria H. Su, Ralph H. Hruban, Ravi K. Bansal,
Advertisements

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion  Orly Elpeleg, Chaya.
Next-Generation Sequencing: Methodology and Application
Combination of a Novel Frameshift Mutation (1929delCA) and a Recurrent Nonsense Mutation (W610X) of the LAMB3 Gene in a Japanese Patient with Herlitz.
Detection of an Apparent Homozygous 3120G>A Cystic Fibrosis Mutation on a Routine Carrier Screen  Denise LaMarche Heaney, Patrick Flume, Lauren Hamilton,
Low Copy Number DNA Template Can Render Polymerase Chain Reaction Error Prone in a Sequence-Dependent Manner  Mansour Akbari, Marianne Doré Hansen, Jostein.
Irene Orlow, Colin B. Begg, Javier Cotignola, Pampa Roy, Amanda J
Molecular Aspects of Melanocytic Dysplastic Nevi
De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation  Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers,
Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease  Alberto Auricchio, Paola.
Kavitha K. Reddy  Journal of Investigative Dermatology 
Analysis of Tumor Cell Evolution in a Melanoma: Evidence of Mutational and Selective Pressure for Loss of p16ink4 and for Microsatellite Instability 
A Synonymous Mutation in the CFTR Gene Causes Aberrant Splicing in an Italian Patient Affected by a Mild Form of Cystic Fibrosis  Valeria Faa′, Alessandra.
Eung Bae Lee, MD, Tae I. n Park, MD, PhD, Sun H
Susana H. Kofman-Alfaro, Ana L. Jimenez Vaca, Sergio A
High Frequency of Loss of Heterozygosity on Chromosome Region 9p21–p22 but Lack of p16INK4a/p19ARF Mutations in Greek Patients with Basal Cell Carcinoma.
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.
Peter B. Cserhalmi-Friedman, Maria C
Robert S. Stern  Journal of Investigative Dermatology 
Laurent Gouya  Journal of Investigative Dermatology 
Circulating Tumor Cells and Melanoma Progression
Hotspot Mutation of Brahma in Non-Melanoma Skin Cancer
Andrew Rowan, Ian Tomlinson  Journal of Investigative Dermatology 
HPV Sequences in Blood of Patients with Condyloma Acuminata
A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Oculocutaneous Albinism  Aihua Wei, Yu Wang, Yan Long,
Francois le Pelletier, Anne Janin  Journal of Investigative Dermatology 
P16INK4a and p14ARF Tumor Suppressor Genes Are Commonly Inactivated in Cutaneous Squamous Cell Carcinoma  Victoria L. Brown, Catherine A. Harwood, Tim.
Jean Cadet, Thierry Douki  Journal of Investigative Dermatology 
Clinical Snippets Journal of Investigative Dermatology
Minutes of the Board of Directors Meeting
Star Trek Publishing Journal of Investigative Dermatology
Somatic Mutations of Fas (Apo-1/CD95) Gene in Cutaneous Squamous Cell Carcinoma Arising from a Burn Scar  Sug Hyung Lee, Min Sun Shin, Hong Sug Kim, Won.
KIT in Melanoma: Many Shades of Gray
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,
Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency  Margarita Valdes-Flores  Journal of Investigative.
Society for Investigative Dermatology 2010 Meeting Minutes
Democratizing the Clinical Trials Agenda in Dermatology
BJD Editor's Choice Journal of Investigative Dermatology
BRAF and NRAS Mutations Are Frequent in Nodular Melanoma but Are not Associated with Tumor Cell Proliferation or Patient Survival  Lars A. Akslen, Sabrina.
Research Snippets Journal of Investigative Dermatology
Journal of Investigative Dermatology
Gabriella Esposito, Giuseppe Rescigno, Francesco Salvatore 
Guang Yang, Kristin Baker Niendorf, Hensin Tsao 
Wook Lew  Journal of Investigative Dermatology 
Novel CDKN2A Mutations Detected in Western Swedish Families with Hereditary Malignant Melanoma  Anna Erlandson, Frida Appelqvist, Ann-Marie Wennberg,
Overexpression of Wild-type p53 in Lichen Sclerosus adjacent to Human Papillomavirus-negative Vulvar Cancer  Katrina Vanin, James Scurry, Heather Thorne,
Metabolic Vulnerability in Melanoma: A ME2 (Me Too) Story
Research Snippets from the British Journal of Dermatology
Clinical and Molecular Characterization of Patients at Risk for Hereditary Melanoma in Southern Brazil  Patricia Ashton-Prolla, Lucio Bakos, Gerson Junqueira,
Identification of Recurrent Mutations in the ARS (Component B) Gene Encoding SLURP-1 in Two Families with Mal de Meleda  Kimberley Morine Ward, Jülide.
Promoter Hypermethylation of the O6-Methylguanine DNA Methyltransferase Gene and Microsatellite Instability in Metastatic Melanoma  Maija R.J. Kohonen-Corish,
Allelic Loss at Drosophila Patched Gene Is Highly Prevalent in Basal and Squamous Cell Carcinomas of the Skin  Hadi Danaee, Margaret R. Karagas, Karl.
Research Snippets Journal of Investigative Dermatology
Journal of Investigative Dermatology
Xiangfeng Cui, Helen Feiner, Honghua Li 
BRAF Kinase Gene V599E Mutation in Growing Melanocytic Lesions
Tandem BRAF Mutations in Primary Invasive Melanomas
Anthony M. Raizis, Martin M. Ferguson, David T. Nicholls, Derek W
BRAF Mutations Are Common Somatic Events in Melanocytic Nevi1
CDKN2A: The IVS2-105A/G Intronic Mutation Found in an Italian Patient Affected by Eight Primary Melanomas  Silvia Majore, Caterina Catricalà, Francesco.
Arun Kumar, Satish C. Girimaji, Mahesh R. Duvvari, Susan H. Blanton 
Gonosomal Mosaicism for a Nonsense Mutation (R1947X) in the NF1 Gene in Segmental Neurofibromatosis Type 1  Claudia Consoli, Celia Moss, Stuart Green,
Christian Hallermann, Bastian Gunawan, Hans Peter Bertsch 
Journal of Investigative Dermatology
Journal of Investigative Dermatology
Epidermolysis Bullosa: The Expanding Mutation Database
Comparison of Genetic Profiles Between Primary Melanomas and their Metastases Reveals Genetic Alterations and Clonal Evolution During Progression  Reiji.
Kit-Sing Au, Adelaide A. Hebert, E. Steve Roach, Hope Northrup 
Presentation transcript:

CDKN2A and MC1R Mutations in Patients with Sporadic Multiple Primary Melanoma  Ketty Peris, Maria Concetta Fargnoli, Alessia Pacifico, Tiziana Surrenti, Wilhem Stolz, Peter Wolf, Hans Peter Soyer, Sergio Chimenti  Journal of Investigative Dermatology  Volume 122, Issue 5, Pages 1327-1330 (May 2004) DOI: 10.1111/j.0022-202X.2004.22532.x Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Germline and somatic CDKN2A mutations in patients with sporadic multiple primary melanoma (MPM). (A) Direct automated sequencing of germline CDKN2A in patient no. 9. (a) Wild-type DNA sequence and (b) G > A substitution at the splice donor site in exon 2. (B) Germline and somatic CDKN2A mutations in patient no. 14. (a) Germline wild-type DNA sequence (top) and C>T transition at base 301 in exon 2 (bottom); (b) loss of heterozygosity (LOH) at microsatellite marker D9S974, as indicated by arrow, was observed in melanomas T5 and T6 as compared with nontumorous tissue from the same patient; (C) Double somatic CDKN2A mutations in the absence of germline mutations in patient no. 11. (a) LOH at D9S171 (arrow) in Allele 1; (b) wild-type CDKN2A sequence (top) and a C insertion at nucleotide 51_52 (arrow) exon 1α in allele 2 (bottom). Journal of Investigative Dermatology 2004 122, 1327-1330DOI: (10.1111/j.0022-202X.2004.22532.x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions