Personalized genomic analyses for cancer mutation discovery and interpretation

Clinical Validation of KRAS, BRAF, and EGFR Mutation Detection Using Next-Generation Sequencing

(2014) Ming-Tseh Lin et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations

(2014) Cornelia Kraus et al.   INTERNATIONAL JOURNAL OF CANCER

RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group

(2014) Newton ACS Wong et al.   JOURNAL OF CLINICAL PATHOLOGY

Comprehensive molecular profiling of lung adenocarcinoma

(2014) Eric A. Collisson et al.   NATURE

Genetic landscape of esophageal squamous cell carcinoma

(2014) Yi-Bo Gao et al.   NATURE GENETICS

Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine

(2014) Eliezer M Van Allen et al.   NATURE MEDICINE

Comprehensive Genomic Analysis of Rhabdomyosarcoma Reveals a Landscape of Alterations Affecting a Common Genetic Axis in Fusion-Positive and Fusion-Negative Tumors

(2014) J. F. Shern et al.   Cancer Discovery

Comprehensive molecular characterization of clear cell renal cell carcinoma

(2013)   NATURE

Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing

(2013) Garrett M Frampton et al.   NATURE BIOTECHNOLOGY

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

(2013) Bryony A Thompson et al.   NATURE GENETICS

Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas

(2013) Yuchen Jiao et al.   NATURE GENETICS

Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia

(2013)   NEW ENGLAND JOURNAL OF MEDICINE

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Genomics Aids Lung Tumor Classification and Treatment

(2013)   Cancer Discovery

Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma

(2012) Mark Sausen et al.   NATURE GENETICS

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes

(2012) Zhi Jiang Zang et al.   NATURE GENETICS

Building a Cancer Phenotype Database

(2012)   Cancer Discovery

Circumventing Cancer Drug Resistance in the Era of Personalized Medicine

(2012) Levi A. Garraway et al.   Cancer Discovery

Targeted high throughput sequencing in clinical cancer Settings: formaldehyde fixed-paraffin embedded (FFPE) tumor tissues, input amount and tumor heterogeneity

(2011) Martin Kerick et al.   BMC Medical Genomics

Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing

(2011) Kim De Leeneer et al.   BREAST CANCER RESEARCH AND TREATMENT

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Integrated genomic analyses of ovarian carcinoma

(2011) D. Bell et al.   NATURE

Exome sequencing identifies GRIN2A as frequently mutated in melanoma

(2011) Xiaomu Wei et al.   NATURE GENETICS

DAXX/ATRX, MEN1, and mTOR Pathway Genes Are Frequently Altered in Pancreatic Neuroendocrine Tumors

(2011) Y. Jiao et al.   SCIENCE

Personalized Oncology Through Integrative High-Throughput Sequencing: A Pilot Study

(2011) S. Roychowdhury et al.   Science Translational Medicine

High-Throughput Detection of Actionable Genomic Alterations in Clinical Tumor Samples by Targeted, Massively Parallel Sequencing

(2011) Nikhil Wagle et al.   Cancer Discovery

A rapid, sensitive, reproducible and cost-effective method for mutation profiling of colon cancer and metastatic lymph nodes

(2010) Debora Fumagalli et al.   BMC CANCER

Targeted Cancer Therapies in the Twenty-First Century: Lessons From Imatinib

(2010) F Stegmeier et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Rapid targeted mutational analysis of human tumours: a clinical platform to guide personalized cancer medicine

(2010) Dora Dias-Santagata et al.   EMBO Molecular Medicine

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

CDD: a Conserved Domain Database for the functional annotation of proteins

(2010) A. Marchler-Bauer et al.   NUCLEIC ACIDS RESEARCH

Frequent Mutations of Chromatin Remodeling Gene ARID1A in Ovarian Clear Cell Carcinoma

(2010) Siân Jones et al.   SCIENCE

The Genetic Landscape of the Childhood Cancer Medulloblastoma

(2010) D. W. Parsons et al.   SCIENCE

Cancer-Specific High-Throughput Annotation of Somatic Mutations: Computational Prediction of Driver Missense Mutations

(2009) H. Carter et al.   CANCER RESEARCH

Wild-TypeKRASIs Required for Panitumumab Efficacy in Patients With Metastatic Colorectal Cancer

(2008) Rafael G. Amado et al.   JOURNAL OF CLINICAL ONCOLOGY

Comparative lesion sequencing provides insights into tumor evolution

(2008) S. Jones et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Core Signaling Pathways in Human Pancreatic Cancers Revealed by Global Genomic Analyses

(2008) S. Jones et al.   SCIENCE

An Integrated Genomic Analysis of Human Glioblastoma Multiforme

(2008) D. W. Parsons et al.   SCIENCE