Human tumor genomics and zebrafish modeling identify SPRED1 loss as a driver of mucosal melanoma

Whole-exome sequencing of oral mucosal melanoma reveals mutational profile and therapeutic targets

(2018) Jiong Lyu et al.   JOURNAL OF PATHOLOGY

Mucosal melanomas in the racially diverse population of California

(2017) Lisa Altieri et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Whole-exome sequencing identifies recurrent SF3B1 R625 mutation and comutation of NF1 and KIT in mucosal melanoma

(2017) Jennifer D. Hintzsche et al.   MELANOMA RESEARCH

Whole-genome landscapes of major melanoma subtypes

(2017) Nicholas K. Hayward et al.   NATURE

BRAF, NRAS, KIT, TERT, GNAQ/GNA11 mutation profile analysis of head and neck mucosal melanomas: a study of 42 cases

(2017) Şule Öztürk Sari et al.   PATHOLOGY

Targeted next generation sequencing of mucosal melanomas identifies frequent NF1 and RAS mutations

(2017) Ioana Cosgarea et al.   Oncotarget

Vulvar and vaginal melanoma: A unique subclass of mucosal melanoma based on a comprehensive molecular analysis of 51 cases compared with 2253 cases of nongynecologic melanoma

(2016) June Y. Hou et al.   CANCER

GNAQ and GNA11 mutations occur in 9.5% of mucosal melanoma and are associated with poor prognosis

(2016) Xinan Sheng et al.   EUROPEAN JOURNAL OF CANCER

Nonoverlapping Clinical and Mutational Patterns in Melanomas from the Female Genital Tract and Atypical Genital Nevi

(2016) Oriol Yélamos et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

NTRK3 kinase fusions in Spitz tumours

(2016) Iwei Yeh et al.   JOURNAL OF PATHOLOGY

Identification of recurrent mutational events in anorectal melanoma

(2016) Hui Min Yang et al.   MODERN PATHOLOGY

The neurofibromin recruitment factor Spred1 binds to the GAP related domain without affecting Ras inactivation

(2016) Theresia Dunzendorfer-Matt et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing

(2016) Eric Talevich et al.   PLoS Computational Biology

A CRISPR/Cas9 Vector System for Tissue-Specific Gene Disruption in Zebrafish

(2015) Julien Ablain et al.   DEVELOPMENTAL CELL

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1

(2015) Yasuko Hirata et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Malignant Melanoma of Vulva and Vagina

(2015) Marjan Rouzbahman et al.   Journal of Lower Genital Tract Disease

Mutation scanning ofBRAF,NRAS,KIT,andGNAQ/GNA11in oral mucosal melanoma: a study of 57 cases

(2015) Jiong Lyu et al.   JOURNAL OF ORAL PATHOLOGY & MEDICINE

TERT promoter mutations in sinonasal malignant melanoma

(2015) Mattias Jangard et al.   MELANOMA RESEARCH

Low Mutational Burden of Eight Genes Involved in the MAPK/ERK, PI3K/AKT, and GNAQ/11 Pathways in Female Genital Tract Primary Melanomas

(2015) Kalliopi I. Pappa et al.   Biomed Research International

Quantifying tumor heterogeneity in whole-genome and whole-exome sequencing data

(2014) Layla Oesper et al.   BIOINFORMATICS

NRAS mutations are more prevalent than KIT mutations in melanoma of the female urogenital tract—A study of 24 cases from the Netherlands

(2014) Adriana C.H. van Engen-van Grunsven et al.   GYNECOLOGIC ONCOLOGY

KIT genetic alterations in anorectal melanomas

(2014) Raffaella Santi et al.   JOURNAL OF CLINICAL PATHOLOGY

Oncogenic mutations in melanomas and benign melanocytic nevi of the female genital tract

(2014) Diane Tseng et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Comparison of molecular abnormalities in vulvar and vaginal melanomas

(2014) Sebastian Aulmann et al.   MODERN PATHOLOGY

KIT, NRAS and BRAF mutations in sinonasal mucosal melanoma: a study of 56 cases

(2013) A Zebary et al.   BRITISH JOURNAL OF CANCER

Unexpected Distribution ofcKITandBRAFMutations among Southern Italian Patients with Sinonasal Melanoma

(2013) Maria Colombino et al.   DERMATOLOGY

Oncogene abnormalities in a series of primary melanomas of the sinonasal tract: NRAS mutations and cyclin D1 amplification are more frequent than KIT or BRAF mutations

(2013) Meriem Chraybi et al.   HUMAN PATHOLOGY

Imatinib for Melanomas Harboring Mutationally Activated or Amplified KIT Arising on Mucosal, Acral, and Chronically Sun-Damaged Skin

(2013) F. Stephen Hodi et al.   JOURNAL OF CLINICAL ONCOLOGY

Genome sequencing of mucosal melanomas reveals that they are driven by distinct mechanisms from cutaneous melanoma

(2013) Simon J Furney et al.   JOURNAL OF PATHOLOGY

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

Highly Recurrent TERT Promoter Mutations in Human Melanoma

(2013) F. W. Huang et al.   SCIENCE

Genome-Scale CRISPR-Cas9 Knockout Screening in Human Cells

(2013) Ophir Shalem et al.   SCIENCE

A Landscape of Driver Mutations in Melanoma

(2012) Eran Hodis et al.   CELL

A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1

(2012) I. B. Stowe et al.   GENES & DEVELOPMENT

Sinonasal mucosal melanoma: Molecular profile and therapeutic implications from a series of 32 cases

(2012) Mario Turri-Zanoni et al.   HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK

Frequency and Spectrum of BRAF Mutations in a Retrospective, Single-Institution Study of 1112 Cases of Melanoma

(2012) Wesley O. Greaves et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

(2012) Michael Krauthammer et al.   NATURE GENETICS

BRAF L597 Mutations in Melanoma Are Associated with Sensitivity to MEK Inhibitors

(2012) Kimberly Brown Dahlman et al.   Cancer Discovery

BRAF and GNAQ mutations in melanocytic tumors of the oral cavity

(2012) Yoram Cohen et al.   Oral Surgery Oral Medicine Oral Pathology Oral Radiology

KIT amplification and gene mutations in acral/mucosal melanoma in Korea

(2011) JINA YUN et al.   APMIS

Clinical presentation, histology, and prognoses of malignant melanoma in ethnic Chinese: A study of 522 consecutive cases

(2011) Zhihong Chi et al.   BMC CANCER

c-kit gene mutation and CD117 expression in human anorectal melanomas

(2011) Shujuan Ni et al.   HUMAN PATHOLOGY

KIT as a Therapeutic Target in Metastatic Melanoma

(2011) Richard D. Carvajal   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Phase II, Open-Label, Single-Arm Trial of Imatinib Mesylate in Patients With Metastatic Melanoma Harboringc-KitMutation or Amplification

(2011) Jun Guo et al.   JOURNAL OF CLINICAL ONCOLOGY

The histone methyltransferase SETDB1 is recurrently amplified in melanoma and accelerates its onset

(2011) Craig J. Ceol et al.   NATURE

GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers

(2011) Craig H Mermel et al.   GENOME BIOLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Analysis of c-KIT expression and KIT gene mutation in human mucosal melanomas

(2008) I Satzger et al.   BRITISH JOURNAL OF CANCER

Transparent Adult Zebrafish as a Tool for In Vivo Transplantation Analysis

(2008) Richard Mark White et al.   Cell Stem Cell