Volume 126, Issue 1, Pages (January 2004)

Slides:

Advertisements

Similar presentations

Diffuse Type Gastric and Lobular Breast Carcinoma in a Familial Gastric Cancer Patient with an E-Cadherin Germline Mutation Gisela Keller, Holger Vogelsang,

Advertisements

Association of Platelet-Derived Growth Factor Receptor α Mutations with Gastric Primary Site and Epithelioid or Mixed Cell Morphology in Gastrointestinal.

Volume 130, Issue 6, Pages (May 2006)

Volume 148, Issue 3, Pages e4 (March 2015)

Gastrointestinal Stromal Tumors: Disease and Treatment Update

Volume 141, Issue 6, Pages (December 2011)

Novel Mutations on EGFR Leu792 Potentially Correlate to Acquired Resistance to Osimertinib in Advanced NSCLC Kai Chen, MD, Fei Zhou, MD, Wenxiang Shen,

Volume 7, Issue 10, Pages (October 2010)

Volume 131, Issue 6, Pages (December 2006)

Volume 125, Issue 3, Pages (September 2003)

Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia Alexandre Irrthum,

Volume 126, Issue 2, Pages (February 2004)

Volume 153, Issue 2, Pages e3 (August 2017)

Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain.

Germline BAP1 Mutations Predispose to Renal Cell Carcinomas

Volume 63, Issue 1, Pages (January 2003)

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I Christian Guelly, Peng-Peng.

Volume 130, Issue 6, Pages (May 2006)

Volume 141, Issue 1, Pages e23-e26 (July 2011)

Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto

Volume 54, Issue 3, Pages (September 1998)

Volume 122, Issue 5, Pages (May 2002)

Quiz Page November 2008 American Journal of Kidney Diseases

Gastrointestinal Stromal Tumors: Disease and Treatment Update

Volume 117, Issue 3, Pages (September 1999)

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy Juliane Ramser, Mary Ellen Ahearn, Claus.

Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations Iiro Eerola, Laurence M. Boon, John.

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia John C. van Swieten, Esther Brusse, Bianca M.

Volume 119, Issue 2, Pages (August 2000)

Laurent Gouya Journal of Investigative Dermatology

Volume 127, Issue 1, Pages (July 2004)

Volume 122, Issue 5, Pages (May 2002)

Microfluidic Deletion/Insertion Analysis for Rapid Screening of KIT and PDGFRA Mutations in CD117-Positive Gastrointestinal Stromal Tumors Alberto Zamò,

Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene Daniel.

Volume 63, Issue 1, Pages (January 2003)

Splitting p63 The American Journal of Human Genetics

Association of Platelet-Derived Growth Factor Receptor α Mutations with Gastric Primary Site and Epithelioid or Mixed Cell Morphology in Gastrointestinal.

Germline Epigenetic Silencing of the Tumor Suppressor Gene PTPRJ in Early-Onset Familial Colorectal Cancer Ramprasath Venkatachalam Gastroenterology

Volume 120, Issue 1, Pages (January 2001)

A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers Wasim Ahmad, Alan.

A Novel Point Mutation Affecting the Tyrosine Kinase Domain of the TRKA Gene in a Family with Congenital Insensitivity to Pain with Anhidrosis Shinichi.

Severe Chilblain Lupus Is Associated with Heterozygous Missense Mutations of Catalytic Amino Acids or their Adjacent Mutations in the Exonuclease Domains.

Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases M. Broman, A. Gehrig, G. Islander,

Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway Ginat Narkis,

A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla) Livia Pisciotta, MD, Cecilia.

Improved Detection of KIT Exon 11 Duplications in Formalin-Fixed, Paraffin-Embedded Gastrointestinal Stromal Tumors Jerzy Lasota, Bartosz Wasag, Sonja.

Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency Margarita Valdes-Flores Journal of Investigative.

X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1 Catarina M. Quinzii, Tuan H. Vu, K.

Homozygous Variegate Porphyria: Identification of Mutations on Both Alleles of the Protoporphyrinogen Oxidase Gene in a Severely Affected Proband Jorge.

Disruption of ERBB2IP Is not Associated with Dystrophic Epidermolysis Bullosa in Both Father and Son Carrying a Balanced 5;13 Translocation Margarita.

Recurrence of the T666M Calcium Channel CACNA1A Gene Mutation in Familial Hemiplegic Migraine with Progressive Cerebellar Ataxia A. Ducros, C. Denier,

Autosomal-Dominant Striatal Degeneration Is Caused by a Mutation in the Phosphodiesterase 8B Gene Silke Appenzeller, Anja Schirmacher, Hartmut Halfter,

A Usual Frameshift and Delayed Termination Codon Mutation in Keratin 5 Causes a Novel Type of Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Volume 130, Issue 1, Pages (January 2006)

Alireza Haghighi, Claire A. Scott, Daniel S

Normophosphatemic Familial Tumoral Calcinosis Is Caused by Deleterious Mutations in SAMD9, Encoding a TNF-α Responsive Protein Ilana Chefetz, Danny Ben.

Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene Daniel.

Figure 1 Pedigree and genetic findings

Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3 Abdul Noor, Christian Windpassinger, Irina Vitcu, Marija.

Volume 71, Issue 6, Pages (March 2007)

Volume 53, Issue 5, Pages (May 1998)

Multiple Endocrine Neoplasia Type 2B and Hirschsprung’s Disease

A novel homozygous FBXO43 mutation associated with male infertility and teratozoospermia in a consanguineous Chinese family Ying Ma, Ph.D., Ning Xie,

Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas Qilin Zhang, Cheng Peng,

Mutations in NEXN, a Z-Disc Gene, Are Associated with Hypertrophic Cardiomyopathy Hu Wang, Zhaohui Li, Jizheng Wang, Kai Sun, Qiqiong Cui, Lei Song, Yubao.

Figure 2 Compound heterozygous mutations in ADAM22

A Missense Mutation in a Highly Conserved Region of CASQ2 Is Associated with Autosomal Recessive Catecholamine-Induced Polymorphic Ventricular Tachycardia.

Alexandre Irrthum, Marika J

Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma Dewi Astuti,

KIT mutations in GISTs. A, amino acid sequence of KIT exon 11 mutations in clinical GIST biopsies. –, amino acids that are deleted; italicized amino acids,

Presentation transcript:

Volume 126, Issue 1, Pages 318-321 (January 2004) PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor Agnès Chompret, Caroline Kannengiesser, Michel Barrois, Philippe Terrier, Philippe Dahan, Thomas Tursz, Gilbert M. Lenoir, Brigitte Bressac-De Paillerets Gastroenterology Volume 126, Issue 1, Pages 318-321 (January 2004) DOI: 10.1053/j.gastro.2003.10.079

Figure 1 A family with multiple GISTs and a cosegregating PDGFRA germline mutation. (A) Family pedigree. Half-filled red symbols indicate family members with proven GIST, quarter-filled red symbols indicate family members with suspected GIST, and half-filled grey symbols indicate family members with unusually large hands. The index case, patient III-5, is marked with an arrow. Below the symbols are indicated: first, either age at death (d.67y), age at diagnosis of GIST (GIST 48y) or current age (52y); second, the PDGFRA germline mutational status: wild-type in blue for PDGFRA mutation noncarriers or D846Y in red for PDGFRA mutation carriers. (B) Microscopic findings of the gastric tumor; left, HES staining; middle, immunohistochemical expression of CD34; right, KIT expression. (C) Sequence chromatographs from PDGFRA showing on the left, a wild-type sequence; on the right, a 2675G>C germline transversion resulting in a D846Y substitution. (D) Alignment of KIT (upper) and PDGFRα (lower) amino acid sequences that are parts of the tyrosine kinase domains. Similarities between gene-coding sequences are indicated by black arrows: exon 17 and partial exon 18 of the KIT gene and exon 18 and partial exon 19 of the PDGFRA gene. Amino acids in red are highly conserved; amino acids in black are not conserved. Germline missense mutations targeting the aspartic acid residue corresponding to codon 820 of c-kit and to codon 846 of PDGFRα, respectively, are indicated in blue with an arrow. Gastroenterology 2004 126, 318-321DOI: (10.1053/j.gastro.2003.10.079)