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 …

[HTML][HTML] Mutational Signatures in Colorectal Cancer: Translational Insights, Clinical Applications, and Limitations

G Crisafulli - Cancers, 2024 - mdpi.com
Simple Summary This review provides a comprehensive overview of the current knowledge
on mutational signatures in colorectal cancer (CRC), highlighting their potential clinical …

Prognostic genome and transcriptome signatures in colorectal cancers

L Nunes, F Li, M Wu, T Luo, K Hammarström, E Torell… - Nature, 2024 - nature.com
Colorectal cancer is caused by a sequence of somatic genomic alterations affecting driver
genes in core cancer pathways. Here, to understand the functional and prognostic impact of …

[HTML][HTML] Genetic immune escape in cancer: timing and implications for treatment

F Martínez-Jiménez, D Chowell - Trends in Cancer, 2024 - cell.com
Genetic immune escape (GIE) alterations pose a significant challenge in cancer by enabling
tumors to evade immune detection. These alterations, which can vary significantly across …

Colorectal cancer patients-derived immunity-organoid platform unveils cancer-specific tissue markers associated with immunotherapy resistance

A Esposito, A Agostini, G Quero, G Piro, L Priori… - Cell Death & …, 2024 - nature.com
Colorectal cancer (CRC) is a devastating disease, ranking as the second leading cause of
cancer-related deaths worldwide. Immune checkpoint inhibitors (ICIs) have emerged as …

Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types from 10,983 cancer patients

A Everall, A Tapinos, A Hawari, A Cornish, A Sud… - medRxiv, 2023 - medrxiv.org
Whole genome sequencing (WGS) allows exploration of the complete compendium of
oncogenic processes generating characteristic patterns of mutations. Mutational signatures …

Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers

A Försti, F Ambrozkiewicz, M Marciniak… - … Journal of Cancer, 2025 - Wiley Online Library
A double primary colorectal cancer (CRC) in a familial setting signals a high risk of CRC. In
order to identify novel CRC susceptibility genes, we whole‐exome sequenced germline …

The ATOM-Seq sequence capture panel can accurately predict microsatellite instability status in formalin-fixed tumour samples, alongside routine gene mutation …

K Srihar, A Gusnanto, SD Richman, NP West… - Scientific Reports, 2024 - nature.com
Microsatellite instability (MSI) occurs across a number of cancers and is associated with
different clinical characteristics when compared to microsatellite stable (MSS) cancers. As …

A comprehensive comparison of tools for fitting mutational signatures

M Medo, CKY Ng, M Medová - Nature Communications, 2024 - nature.com
Mutational signatures connect characteristic mutational patterns in the genome with
biological or chemical processes that take place in cancers. Analysis of mutational …

[HTML][HTML] Estimating the Number of Polygenic Diseases Among Six Mutually Exclusive Entities of Non-Tumors and Cancer

CIE Smith, JA Burger, R Zain - International journal of molecular sciences, 2024 - mdpi.com
In the era of precision medicine with increasing amounts of sequenced cancer and non-
cancer genomes of different ancestries, we here enumerate the resulting polygenic disease …