Clear cell renal cell carcinoma ontogeny and mechanisms of lethality

E Jonasch, CL Walker, WK Rathmell - Nature Reviews Nephrology, 2021 - nature.com
The molecular features that define clear cell renal cell carcinoma (ccRCC) initiation and
progression are being increasingly defined. The TRACERx Renal studies and others that …

The SWI/SNF complex in cancer—biology, biomarkers and therapy

P Mittal, CWM Roberts - Nature reviews Clinical oncology, 2020 - nature.com
Cancer genome-sequencing studies have revealed a remarkably high prevalence of
mutations in genes encoding subunits of the SWI/SNF chromatin-remodelling complexes …

[HTML][HTML] New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia

K Trpkov, O Hes, SR Williamson, AJ Adeniran… - Modern Pathology, 2021 - Elsevier
Abstract The Genitourinary Pathology Society (GUPS) reviewed recent advances in renal
neoplasia, particularly post-2016 World Health Organization (WHO) classification, to provide …

HIF-1α and HIF-2α differently regulate tumour development and inflammation of clear cell renal cell carcinoma in mice

R Hoefflin, S Harlander, S Schäfer, P Metzger… - Nature …, 2020 - nature.com
Mutational inactivation of VHL is the earliest genetic event in the majority of clear cell renal
cell carcinomas (ccRCC), leading to accumulation of the HIF-1α and HIF-2α transcription …

Deterministic evolutionary trajectories influence primary tumor growth: TRACERx renal

S Turajlic, H Xu, K Litchfield, A Rowan, S Horswell… - Cell, 2018 - cell.com
The evolutionary features of clear-cell renal cell carcinoma (ccRCC) have not been
systematically studied to date. We analyzed 1,206 primary tumor regions from 101 patients …

Biological Mechanisms and Clinical Significance of BAP1 Mutations in Human Cancer

M Carbone, JW Harbour, J Brugarolas, A Bononi… - Cancer discovery, 2020 - AACR
Among more than 200 BAP1-mutant families affected by the “BAP1 cancer syndrome,”
nearly all individuals inheriting a BAP1 mutant allele developed one or more malignancies …

Von Hippel–Lindau disease: insights into oxygen sensing, protein degradation, and cancer

WG Kaelin - The Journal of Clinical Investigation, 2022 - Am Soc Clin Investig
Germline loss-of-function mutations of the VHL tumor suppressor gene cause von Hippel–
Lindau disease, which is associated with an increased risk of hemangioblastomas, clear cell …

Roles and mechanisms of BAP1 deubiquitinase in tumor suppression

L Masclef, O Ahmed, B Estavoyer, B Larrivée… - Cell Death & …, 2021 - nature.com
The BAP1 gene has emerged as a major tumor suppressor mutated with various
frequencies in numerous human malignancies, including uveal melanoma, malignant …

PBRM1 loss defines a nonimmunogenic tumor phenotype associated with checkpoint inhibitor resistance in renal carcinoma

XD Liu, W Kong, CB Peterson, DJ McGrail… - Nature …, 2020 - nature.com
A non-immunogenic tumor microenvironment (TME) is a significant barrier to immune
checkpoint blockade (ICB) response. The impact of Polybromo-1 (PBRM1) on TME and …

Chromatin remodellers as therapeutic targets

HA Malone, CWM Roberts - Nature Reviews Drug Discovery, 2024 - nature.com
Large-scale cancer genome sequencing studies have revealed that chromatin regulators
are frequently mutated in cancer. In particular, more than 20% of cancers harbour mutations …