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7 sie 2023 · In this study, we investigate the genomic sequences of 20,331 primary tumours representing 41 distinct human cancer types to identify and catalogue the driver mutations present in 727 known...
15 gru 2022 · The European Society for Medical Oncology Precision Medicine Working Group (ESMO PMWG) was reconvened to update its 2018/19 recommendations on follow-up of putative germline variants detected on tumour-only sequencing, which were based on an analysis of 17 152 cancers.
The differences in somatic aberrations between tumors can partially be explained by a patient’s germline variants, suggesting that germline variants influence the somatic mutational landscape of cancer. Germline variants are associated with patient outcome across a large array of cancers.
25 sie 2021 · Abstract. Over the course of an individual’s lifetime, normal human cells accumulate mutations 1. Here we compare the mutational landscape in 29 cell types from the soma and germline using...
5 lis 2021 · Comprehensive characterization with new ‘omic’ tools has produced landscape snapshots of somatic alterations in distinct cancers. The catalog of known cancer driver genes has led to an ...
17 lut 2020 · Germline variants are predictive of outcome in cancer patients and specific germline variants can improve patient outcome predictions beyond predictions made using clinical factors alone.
27 lis 2020 · By conducting a systematic analysis of germline genomes of 9712 cancer patients representing 22 common cancer types along with 16,670 noncancer individuals, we identified seven cancer-associated germline genomic patterns (CGGPs), which summarized trinucleotide mutational spectra of germline genomes.
