Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) beyond SMARCA4 Mutations: A Comprehensive Genomic Analysis

The ATPase module of mammalian SWI/SNF family complexes mediates subcomplex identity and catalytic activity–independent genomic targeting

(2019) Joshua Pan et al.   NATURE GENETICS

Assessment of tumor mutation burden calculation from gene panel sequencing data

(2019) Zhenwu Xu et al.   OncoTargets and Therapy

Clinical utility of SMARCA4 testing by immunohistochemistry in rare ovarian tumours

(2019) Catherine Genestie et al.   BRITISH JOURNAL OF CANCER

Ponatinib Shows Potent Antitumor Activity in Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT) through Multikinase Inhibition

(2018) Jessica D. Lang et al.   CLINICAL CANCER RESEARCH

Tazemetostat, an EZH2 inhibitor, in relapsed or refractory B-cell non-Hodgkin lymphoma and advanced solid tumours: a first-in-human, open-label, phase 1 study

(2018) Antoine Italiano et al.   LANCET ONCOLOGY

Comprehensive genomic profiling reveals inactivating SMARCA4 mutations and low tumor mutational burden in small cell carcinoma of the ovary, hypercalcemic-type

(2017) Douglas I. Lin et al.   GYNECOLOGIC ONCOLOGY

The histone methyltransferase EZH2 is a therapeutic target in small cell carcinoma of the ovary, hypercalcaemic type

(2017) Yemin Wang et al.   JOURNAL OF PATHOLOGY

Low-Dose Histone Deacetylase Inhibitor Treatment Leads to Tumor Growth Arrest and Multi-Lineage Differentiation of Malignant Rhabdoid Tumors

(2016) A. Muscat et al.   CLINICAL CANCER RESEARCH

Concurrent ARID1A and ARID1B inactivation in endometrial and ovarian dedifferentiated carcinomas

(2016) Mackenzie Coatham et al.   MODERN PATHOLOGY

Dual loss of the SWI/SNF complex ATPases SMARCA4/BRG1 and SMARCA2/BRM is highly sensitive and specific for small cell carcinoma of the ovary, hypercalcaemic type

(2015) Anthony N Karnezis et al.   JOURNAL OF PATHOLOGY

SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas

(2015) Francois Le Loarer et al.   NATURE GENETICS

SWI/SNF-mutant cancers depend on catalytic and non-catalytic activity of EZH2

(2015) Kimberly H Kim et al.   NATURE MEDICINE

The silencing of the SWI/SNF subunit and anticancer gene BRM in Rhabdoid tumors

(2015) Bhaskar Kahali et al.   Oncotarget

SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis

(2014) Martin Hasselblatt et al.   ACTA NEUROPATHOLOGICA

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4

(2014) Pilar Ramos et al.   NATURE GENETICS

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

(2014) Leora Witkowski et al.   NATURE GENETICS

Recurrent SMARCA4 mutations in small cell carcinoma of the ovary

(2014) Petar Jelinic et al.   NATURE GENETICS

Functional epigenetics approach identifies BRM/SMARCA2 as a critical synthetic lethal target in BRG1-deficient cancers

(2014) G. R. Hoffman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy

(2013) Cigall Kadoch et al.   NATURE GENETICS

Systematic evaluation of spliced alignment programs for RNA-seq data

(2013) Pär G Engström et al.   NATURE METHODS

Ovarian small cell carcinoma of hypercalcemic type – evidence of germline origin and smarca4 gene inactivation. a pilot study

(2013) Jolanta Kupryjańczyk et al.   POLISH JOURNAL OF PATHOLOGY

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

(2012) D. C. Koboldt et al.   GENOME RESEARCH

Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift

(2012) Pablo Cingolani et al.   Frontiers in Genetics

Malignant Rhabdoid Tumors Express Stem Cell Factors, Which Relate To the Expression of EZH2 and Id Proteins

(2011) Sriram Venneti et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Two novel BRM insertion promoter sequence variants are associated with loss of BRM expression and lung cancer risk

(2011) G Liu et al.   ONCOGENE

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies

(2010) C. O'Keefe et al.   BLOOD

Epigenetic Antagonism between Polycomb and SWI/SNF Complexes during Oncogenic Transformation

(2010) Boris G. Wilson et al.   CANCER CELL

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

(2010) A. McKenna et al.   GENOME RESEARCH

Small Cell Ovarian Carcinoma

(2010) Jesse Barondeau et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

The novel mouse Polo-like kinase 5 responds to DNA damage and localizes in the nucleolus

(2010) Zdenek Andrysik et al.   NUCLEIC ACIDS RESEARCH