Mitochondrial DNA copy number in human disease: the more the better?

R Filograna, M Mennuni, D Alsina, NG Larsson - FEBS letters, 2021 - Wiley Online Library
Most of the genetic information has been lost or transferred to the nucleus during the
evolution of mitochondria. Nevertheless, mitochondria have retained their own genome that …

DNA methylation profiling: an emerging paradigm for cancer diagnosis

A Papanicolau-Sengos, K Aldape - Annual Review of Pathology …, 2022 - annualreviews.org
Histomorphology has been a mainstay of cancer diagnosis in anatomic pathology for many
years. DNA methylation profiling is an additional emerging tool that will serve as an adjunct …

Towards a general-purpose foundation model for computational pathology

RJ Chen, T Ding, MY Lu, DFK Williamson, G Jaume… - Nature Medicine, 2024 - nature.com
Quantitative evaluation of tissue images is crucial for computational pathology (CPath) tasks,
requiring the objective characterization of histopathological entities from whole-slide images …

Signatures of copy number alterations in human cancer

CD Steele, A Abbasi, SMA Islam, AL Bowes… - Nature, 2022 - nature.com
Gains and losses of DNA are prevalent in cancer and emerge as a consequence of inter-
related processes of replication stress, mitotic errors, spindle multipolarity and breakage …

Single-cell analyses of renal cell cancers reveal insights into tumor microenvironment, cell of origin, and therapy response

Y Zhang, SP Narayanan, R Mannan… - Proceedings of the …, 2021 - National Acad Sciences
Diverse subtypes of renal cell carcinomas (RCCs) display a wide spectrum of
histomorphologies, proteogenomic alterations, immune cell infiltration patterns, and clinical …

Pan-cancer image-based detection of clinically actionable genetic alterations

JN Kather, LR Heij, HI Grabsch, C Loeffler, A Echle… - Nature cancer, 2020 - nature.com
Molecular alterations in cancer can cause phenotypic changes in tumor cells and their
microenvironment. Routine histopathology tissue slides, which are ubiquitously available …

[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 …

[HTML][HTML] Oncogenic signaling pathways in the cancer genome atlas

F Sanchez-Vega, M Mina, J Armenia, WK Chatila… - Cell, 2018 - cell.com
Genetic alterations in signaling pathways that control cell-cycle progression, apoptosis, and
cell growth are common hallmarks of cancer, but the extent, mechanisms, and co …

[HTML][HTML] Cell-of-origin patterns dominate the molecular classification of 10,000 tumors from 33 types of cancer

KA Hoadley, C Yau, T Hinoue, DM Wolf, AJ Lazar… - Cell, 2018 - cell.com
We conducted comprehensive integrative molecular analyses of the complete set of tumors
in The Cancer Genome Atlas (TCGA), consisting of approximately 10,000 specimens and …

The Cancer Genome Atlas of renal cell carcinoma: findings and clinical implications

WM Linehan, CJ Ricketts - Nature Reviews Urology, 2019 - nature.com
Abstract The Cancer Genome Atlas (TCGA) characterized the somatic genetic and genomic
alterations in renal cell carcinoma (RCC) encompassing the major RCC histological …