Over the past 4 years, nearly 100 exome sequencing studies have revealed the high frequency of mutations in the genes encoding the subunits of ATP-dependent chromatin …
A Italiano, JC Soria, M Toulmonde, JM Michot… - The Lancet …, 2018 - thelancet.com
Background Activating enhancer of zeste homolog 2 (EZH2) mutations or aberrations of the switch/sucrose non-fermentable (SWI/SNF) complex (eg, mutations or deletions of the …
Introduction Highly aggressive thoracic neoplasms characterized by SMARCA4 (BRG1) deficiency and undifferentiated round cell or rhabdoid morphology have been recently …
WG McCluggage, N Singh, CB Gilks - Histopathology, 2022 - Wiley Online Library
An updated World Health Organization (WHO) classification of female genital tumours was published in autumn 2020. We discuss the major new additions to and changes from the …
K Mardinian, JJ Adashek, GP Botta, S Kato… - Molecular cancer …, 2021 - AACR
The SWI/SNF chromatin remodeling complex, via nucleosome topology modulation, regulates transcription. The SMARCA4 (BRG1) subunit codes for the ATPase energy engine …
H LaDuca, EC Polley, A Yussuf, L Hoang… - Genetics in …, 2020 - nature.com
Purpose Despite the rapid uptake of multigene panel testing (MGPT) for hereditary cancer predisposition, there is limited guidance surrounding indications for testing and genes to …
H Hampel, RL Bennett, A Buchanan, R Pearlman… - Genetics in …, 2015 - Elsevier
Disclaimer: The practice guidelines of the American College of Medical Genetics and Genomics (ACMG) and the National Society of Genetic Counselors (NSGC) are developed …
Ovarian cancer is the fifth cause of cancer-related death in women and comprises a histologically and genetically broad range of tumours, including those of epithelial, sex cord …
F Le Loarer, S Watson, G Pierron, VT de Montpreville… - Nature …, 2015 - nature.com
While investigating cohorts of unclassified sarcomas by RNA sequencing, we identified 19 cases with inactivation of SMARCA4, which encodes an ATPase subunit of BAF chromatin …