Mutational signatures: emerging concepts, caveats and clinical applications

G Koh, A Degasperi, X Zou, S Momen… - Nature Reviews …, 2021 - nature.com
Whole-genome sequencing has brought the cancer genomics community into new territory.
Thanks to the sheer power provided by the thousands of mutations present in each patient's …

[HTML][HTML] Genomic instability, inflammatory signaling and response to cancer immunotherapy

M Chen, R Linstra, MATM van Vugt - … et Biophysica Acta (BBA)-Reviews on …, 2022 - Elsevier
Genomic and chromosomal instability are hallmarks of cancer and shape the genomic
composition of cancer cells, thereby determining their behavior and response to treatment …

[HTML][HTML] Ovarian cancer mutational processes drive site-specific immune evasion

I Vázquez-García, F Uhlitz, N Ceglia, JLP Lim, M Wu… - Nature, 2022 - nature.com
High-grade serous ovarian cancer (HGSOC) is an archetypal cancer of genomic instability,,–
patterned by distinct mutational processes,, tumour heterogeneity,–and intraperitoneal …

Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme

A Sosinsky, J Ambrose, W Cross, C Turnbull… - Nature Medicine, 2024 - nature.com
Abstract The Cancer Programme of the 100,000 Genomes Project was an initiative to
provide whole-genome sequencing (WGS) for patients with cancer, evaluating opportunities …

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 …

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 …

Homologous recombination deficiency: concepts, definitions, and assays

MD Stewart, D Merino Vega, RC Arend… - The …, 2022 - academic.oup.com
Background Homologous recombination deficiency (HRD) is a phenotype that is
characterized by the inability of a cell to effectively repair DNA double-strand breaks using …

[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 …

The genomic and immune landscape of long-term survivors of high-grade serous ovarian cancer

DW Garsed, A Pandey, S Fereday, CJ Kennedy… - Nature …, 2022 - nature.com
Fewer than half of all patients with advanced-stage high-grade serous ovarian cancers
(HGSCs) survive more than five years after diagnosis, but those who have an exceptionally …