[HTML][HTML] Homologous recombination repair deficiency: an overview for pathologists

KD Doig, AP Fellowes, SB Fox - Modern Pathology, 2023 - Elsevier
The repair of DNA double-stranded breaks relies on the homologous recombination repair
pathway and is critical to cell function. However, this pathway can be lost in some cancers …

Implementation of whole-genome and transcriptome sequencing into clinical cancer care

E Cuppen, O Elemento, R Rosenquist, S Nikic… - JCO Precision …, 2022 - ascopubs.org
PURPOSE The combination of whole-genome and transcriptome sequencing (WGTS) is
expected to transform diagnosis and treatment for patients with cancer. WGTS is a …

Pan-cancer whole-genome comparison of primary and metastatic solid tumours

F Martínez-Jiménez, A Movasati, SR Brunner… - Nature, 2023 - nature.com
Metastatic cancer remains an almost inevitably lethal disease,–. A better understanding of
disease progression and response to therapies therefore remains of utmost importance …

Expansion of cancer risk profile for BRCA1 and BRCA2 pathogenic variants

Y Momozawa, R Sasai, Y Usui, K Shiraishi… - JAMA …, 2022 - jamanetwork.com
Importance The clinical importance of genetic testing ofBRCA1andBRCA2in breast, ovarian,
prostate, and pancreatic cancers is widely recognized. However, there is insufficient …

[HTML][HTML] Single-cell genomic variation induced by mutational processes in cancer

T Funnell, CH O'Flanagan, MJ Williams, A McPherson… - Nature, 2022 - nature.com
How cell-to-cell copy number alterations that underpin genomic instability in human cancers
drive genomic and phenotypic variation, and consequently the evolution of cancer, remains …

Single duplex DNA sequencing with CODEC detects mutations with high sensitivity

JH Bae, R Liu, E Roberts, E Nguyen, S Tabrizi… - Nature Genetics, 2023 - nature.com
Detecting mutations from single DNA molecules is crucial in many fields but challenging.
Next-generation sequencing (NGS) affords tremendous throughput but cannot directly …

MutationalPatterns: the one stop shop for the analysis of mutational processes

F Manders, AM Brandsma, J de Kanter, M Verheul… - BMC genomics, 2022 - Springer
Background The collective of somatic mutations in a genome represents a record of
mutational processes that have been operative in a cell. These processes can be …

TP53-dependent toxicity of CRISPR/Cas9 cuts is differential across genomic loci and can confound genetic screening

MM Álvarez, J Biayna, F Supek - Nature communications, 2022 - nature.com
CRISPR/Cas9 gene editing can inactivate genes in a precise manner. This process involves
DNA double-strand breaks (DSB), which may incur a loss of cell fitness. We hypothesize that …

Comprehensive analysis of mutational signatures reveals distinct patterns and molecular processes across 27 pediatric cancers

V Thatikonda, SMA Islam, RJ Autry, BC Jones… - Nature cancer, 2023 - nature.com
Abstract Analysis of mutational signatures can reveal underlying molecular mechanisms of
the processes that have imprinted the somatic mutations found in cancer genomes. Here, we …

[HTML][HTML] Three-dimensional modelling of ovarian cancer: From cell lines to organoids for discovery and personalized medicine

C Yee, KA Dickson, MN Muntasir, Y Ma… - … in Bioengineering and …, 2022 - frontiersin.org
Ovarian cancer has the highest mortality of all of the gynecological malignancies. There are
several distinct histotypes of this malignancy characterized by specific molecular events and …