Integrated mutational landscape analysis of uterine leiomyosarcomas

The repertoire of mutational signatures in human cancer

(2020) Ludmil B. Alexandrov et al.   NATURE

Distinct Classes of Complex Structural Variation Uncovered across Thousands of Cancer Genome Graphs

(2020) Kevin Hadi et al.   CELL

Leiomyoma with KAT6B-KANSL1 fusion: case report of a rapidly enlarging uterine mass in a postmenopausal woman

(2019) Alessandra J. Ainsworth et al.   Diagnostic Pathology

SigProfilerMatrixGenerator: a tool for visualizing and exploring patterns of small mutational events

(2019) Erik N. Bergstrom et al.   BMC GENOMICS

SvABA: genome-wide detection of structural variants and indels by local assembly

(2018) Jeremiah A. Wala et al.   GENOME RESEARCH

Strelka2: fast and accurate calling of germline and somatic variants

(2018) Sangtae Kim et al.   NATURE METHODS

Integrative genomic and transcriptomic analysis of leiomyosarcoma

(2018) Priya Chudasama et al.   Nature Communications

Pisces: an accurate and versatile variant caller for somatic and germline next-generation sequencing data

(2018) Tamsen Dunn et al.   BIOINFORMATICS

Loss of ATRX/DAXX expression and alternative lengthening of telomeres in uterine leiomyomas

(2018) Terhi V. Ahvenainen et al.   CANCER

Discovery and Characterization of Recurrent, Targetable ALK Fusions in Leiomyosarcoma

(2018) Lara E. Davis et al.   MOLECULAR CANCER RESEARCH

Mutational landscape of primary, metastatic, and recurrent ovarian cancer reveals c-MYC gains as potential target for BET inhibitors

(2018) Charles Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Integrated genome analysis of uterine leiomyosarcoma to identify novel driver genes and targetable pathways

(2017) Tine Cuppens et al.   INTERNATIONAL JOURNAL OF CANCER

A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer

(2017) Paz Polak et al.   NATURE GENETICS

Chromosome 1q21.3 amplification is a trackable biomarker and actionable target for breast cancer recurrence

(2017) Jian Yuan Goh et al.   NATURE MEDICINE

Accelerating Discovery of Functional Mutant Alleles in Cancer

(2017) Matthew T. Chang et al.   Cancer Discovery

ATRX and DAXX: Mechanisms and Mutations

(2017) Michael A. Dyer et al.   Cold Spring Harbor Perspectives in Medicine

Alternative Lengthening of Telomeres and Loss of DAXX/ATRX Expression Predicts Metastatic Disease and Poor Survival in Patients with Pancreatic Neuroendocrine Tumors

(2016) Aatur D. Singhi et al.   CLINICAL CANCER RESEARCH

Transcript-level expression analysis of RNA-seq experiments with HISAT, StringTie and Ballgown

(2016) Mihaela Pertea et al.   Nature Protocols

Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12

(2016) Netta Mäkinen et al.   PLoS Genetics

The Role of ATRX in the Alternative Lengthening of Telomeres (ALT) Phenotype

(2016) João Amorim et al.   Genes

Switch telomerase to ALT mechanism by inducing telomeric DNA damages and dysfunction of ATRX and DAXX

(2016) Yang Hu et al.   Scientific Reports

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

MED12somatic mutations in fibroadenomas and phyllodes tumours of the breast

(2015) Salvatore Piscuoglio et al.   HISTOPATHOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Novel KAT6B-KANSL1 Fusion Gene Identified by RNA Sequencing in Retroperitoneal Leiomyoma with t(10;17)(q22;q21)

(2015) Ioannis Panagopoulos et al.   PLoS One

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

MED12 and HMGA2 mutations: two independent genetic events in uterine leiomyoma and leiomyosarcoma

(2014) Elizabeth Bertsch et al.   MODERN PATHOLOGY

Mitogen-Activated Protein Kinase Kinase 4 (MAP2K4) Promotes Human Prostate Cancer Metastasis

(2014) Janet M. Pavese et al.   PLoS One

The Vigorous Immune Microenvironment of Microsatellite Instable Colon Cancer Is Balanced by Multiple Counter-Inhibitory Checkpoints

(2014) Nicolas J. Llosa et al.   Cancer Discovery

MSIsensor: microsatellite instability detection using paired tumor-normal sequence data

(2013) Beifang Niu et al.   BIOINFORMATICS

Mutational heterogeneity in cancer and the search for new cancer-associated genes

(2013) Michael S. Lawrence et al.   NATURE

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

(2013) Alberto Magi et al.   GENOME BIOLOGY

DELLY: structural variant discovery by integrated paired-end and split-read analysis

(2012) T. Rausch et al.   BIOINFORMATICS

Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer

(2012) K Kämpjärvi et al.   BRITISH JOURNAL OF CANCER

Loss of ATRX or DAXX expression and concomitant acquisition of the alternative lengthening of telomeres phenotype are late events in a small subset of MEN-1 syndrome pancreatic neuroendocrine tumors

(2012) Roeland F de Wilde et al.   MODERN PATHOLOGY

MED12 mutations in leiomyosarcoma and extrauterine leiomyoma

(2012) Gloria Ravegnini et al.   MODERN PATHOLOGY

A novel deletion of theMEN1gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype

(2011) Hussein Raef et al.   CLINICAL ENDOCRINOLOGY

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

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Strong Smooth Muscle Differentiation Is Dependent on Myocardin Gene Amplification in Most Human Retroperitoneal Leiomyosarcomas

(2009) G. Perot et al.   CANCER RESEARCH

Clinical management of uterine sarcomas

(2009) Frédéric Amant et al.   LANCET ONCOLOGY

DNA Polymerase POLN Participates in Cross-Link Repair and Homologous Recombination

(2009) G.-L. Moldovan et al.   MOLECULAR AND CELLULAR BIOLOGY

Mutant p53 Gain-of-Function in Cancer

(2009) M. Oren et al.   Cold Spring Harbor Perspectives in Biology

Multiple Endocrine Neoplasia Type 1 with Multiple Leiomyomas Linked to a Novel Mutation in the MEN1 Gene

(2008) Heekyoung Choi et al.   YONSEI MEDICAL JOURNAL