Novel CDKN2A Mutations Detected in Western Swedish Families with Hereditary Malignant Melanoma Anna Erlandson, Frida Appelqvist, Ann-Marie Wennberg,

Slides:

Advertisements

Similar presentations

Detection of Exon 12 Mutations in the JAK2 Gene

Advertisements

Next-Generation Sequencing for Mutation Detection in Heritable Skin Diseases: The Paradigm of Pseudoxanthoma Elasticum Andrew P. South, Qiaoli Li, Jouni.

Next-Generation Sequencing: Methodology and Application

Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic.

Detection of Exon 12 Mutations in the JAK2 Gene

Irwin Freedberg: Physician-Scientist and Mentor

Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family Naoyuki Kariya, Yutaka Shimomura, Masaaki Ito

Kavitha K. Reddy Journal of Investigative Dermatology

Susana H. Kofman-Alfaro, Ana L. Jimenez Vaca, Sergio A

Modeling Atopic Dermatitis with Increasingly Complex Mouse Models

Margarita Indelman, Reuven Bergman, Michal Ramon, Eli Sprecher

Laurent Gouya Journal of Investigative Dermatology

Sensitive and Specific KRAS Somatic Mutation Analysis on Whole-Genome Amplified DNA from Archival Tissues Ronald van Eijk, Marjo van Puijenbroek, Amiet.

Circulating Tumor Cells and Melanoma Progression

Hotspot Mutation of Brahma in Non-Melanoma Skin Cancer

Testing and Reducing Skindex-29 Using Rasch Analysis: Skindex-17

A Novel Helix Termination Mutation in Keratin 10 in Annular Epidermolytic Ichthyosis, a Variant of Bullous Congenital Ichthyosiform Erythroderma Yasushi.

Irwin Freedberg, Odysseus for Our Generation

Long-Range Polymerase Chain Reaction for Specific Full-Length Amplification of the Human Keratin 14 Gene and Novel Keratin 14 Mutations in Epidermolysis.

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.

A Novel 4 bp Deletion Mutation in the FALDH Gene Segregating in a Turkish Family with Sjögren–Larsson Syndrome Michel A.A.P. Willemsen, Peter M. Steijlen,

Compound Heterozygous TGM1 Mutations Including a Novel Missense Mutation L204Q in a Mild Form of Lamellar Ichthyosis Masashi Akiyama, Itsuro Matsuo

Rapid and Sensitive Real-Time Polymerase Chain Reaction Method for Detection and Quantification of 3243A>G Mitochondrial Point Mutation Rinki Singh,

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

Unraveling the Mysteries of IGF-1 Signaling in Melanoma

Feras M. Hantash, Arlene Rebuyon, Mei Peng, Joy B

Remco van Doorn, Willem H. Zoutman, Nelleke A. Gruis

KIT in Melanoma: Many Shades of Gray

Journal of Investigative Dermatology

Journal of Investigative Dermatology

X-Linked Anhidrotic (Hypohidrotic) Ectodermal Dysplasia Caused by a Novel Mutation in EDA1 Gene: 406T>G (Leu55Arg) Francisco Martínez, José María Millán,

A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal Dysplasia Noriaki Aoki, Kaoru Ito, Toshiaki Tachibana,

Genetic Analysis of Male Pattern Baldness and the 5α-Reductase Genes

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

Epigenetic Inactivation of Tumor Suppressor Genes in Serum of Patients with Cutaneous Melanoma Alessandra Marini, Alireza Mirmohammadsadegh, Sandeep.

Research Snippets Journal of Investigative Dermatology

Clinical Snippets Journal of Investigative Dermatology

Journal of Investigative Dermatology

Gabriella Esposito, Giuseppe Rescigno, Francesco Salvatore

Masahide Yazaki, Sandra A. Farrell, Merrill D. Benson

Guang Yang, Kristin Baker Niendorf, Hensin Tsao

Wook Lew Journal of Investigative Dermatology

Katie Ridd, Siegrid Yu, Boris C. Bastian

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,

Circulating Tumor Cells and Detection of the Melanoma-Associated Antigen HMW-MAA in the Serum of Melanoma Patients Anja Ulmer, Gerhard Fierlbeck Journal.

Christian Hafner, Arndt Hartmann, Francisco X

Promoter Hypermethylation of the O6-Methylguanine DNA Methyltransferase Gene and Microsatellite Instability in Metastatic Melanoma Maija R.J. Kohonen-Corish,

Research Snippets Journal of Investigative Dermatology

Journal of Investigative Dermatology

Irwin Freedberg: The Early Years at Harvard

BRAF Kinase Gene V599E Mutation in Growing Melanocytic Lesions

Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion.

A Mutation in the V1 Domain of K16 is Responsible for Unilateral Palmoplantar Verrucous Nevus Alessandro Terrinoni, Vincenzo De Laurenzi, Eleonora Candi,

Anthony M. Raizis, Martin M. Ferguson, David T. Nicholls, Derek W

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

Establishment of a Molecular Diagnostic System for Spinal Muscular Atrophy Jian Zeng, Yanhong Lin, Aizhen Yan, Longfeng Ke, Zhongyong Zhu, Fenghua Lan

Psoriasis Genetics: The Way Forward

Ellen Pfendner, Jouni Uitto Journal of Investigative Dermatology

Journal of Investigative Dermatology

Activation of B-raf in Non-Malignant Nevi Predicts a Novel Tumor Suppressor Gene in Melanoma (MAP Kinase Phosphatase) Jack L. Arbiser Journal of Investigative.

Novel Keratin 14 Mutations in Patients with Severe Recessive Epidermolysis Bullosa Simplex Cristina Has, Yow-Ren Chang, Andreas Volz, Doris Hoeping,

Journal of Investigative Dermatology

The Environment and Human Health

Kevan G. Lewis, Martin A. Weinstock

Presentation transcript:

Novel CDKN2A Mutations Detected in Western Swedish Families with Hereditary Malignant Melanoma Anna Erlandson, Frida Appelqvist, Ann-Marie Wennberg, Joanna Holm, Charlotta Enerbäck Journal of Investigative Dermatology Volume 127, Issue 6, Pages 1465-1467 (June 2007) DOI: 10.1038/sj.jid.5700718 Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 The c.322G>T; Asp108Tyr mutation detected in three families. Sequence analysis of polymerase chain reaction-amplified genomic DNA (NM_000077.3). Journal of Investigative Dermatology 2007 127, 1465-1467DOI: (10.1038/sj.jid.5700718) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Pedigrees of melanoma families with the mutation Asp108Tyr. In three of the families (a total of seven patients), we found a novel mutation. *Indicates tested individuals, all positive for the CDKN2A mutation. Journal of Investigative Dermatology 2007 127, 1465-1467DOI: (10.1038/sj.jid.5700718) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Duplication of CDKN2A and CDKN2B. The MLPA analysis detected in one patient with duplication of all 12 probes located in CDKN2A and 2B. The probe-lengths correspond to the MLPA kit P024 (MRC). Specific probes are assigned for the genes CDKN2A and 2B. Probe-lengths for CDKN2A are 148, 157, 238, 256, 265, 274, 355, 391, 427bp and 454bp for CDKN2B 202, 211. The additional probes in the figure are located in the surrounding genes at 9p21. Upper panel shows blue bars from normal control and green bars from a patient with melanoma. Lower panel shows the results as dosage of patient compared to control; two alleles are 100% and three alleles are 150% (the red line indicates cutoff at ±20%). Sequence pilot version 1.2 software (JSI medical systems) was used for quantification analyses. Journal of Investigative Dermatology 2007 127, 1465-1467DOI: (10.1038/sj.jid.5700718) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions