Ludmil B. Alexandrov
Created the mathematical framework for extracting mutational signatures from cancer genomes and the COSMIC signature catalogue.
Overview
Ludmil Alexandrov developed the computational method that decomposes cancer genomes into mutational signatures and led the 2013 Nature analysis of 7,000 cancers and the 2020 Pan-Cancer Analysis of Whole Genomes catalogue, which together define the COSMIC signatures used to infer causes such as tobacco, UV and APOBEC. His laboratory studies signatures of environmental exposures and the origins of cancer in never-smokers.
| Title | Journal | Year |
|---|---|---|
| Signatures of mutational processes in human cancer | Nature | 2013 |
| The repertoire of mutational signatures in human cancer | Nature | 2020 |
Carrying a cancer mutation is normal; most mutant clones never become cancer. This means blood or tissue tests that look for driver mutations alone will produce false positives, and that the question of what tips a mutant clone into cancer (tissue environment, further hits, immune surveillance) is as important as the mutation itself.
There are not thousands of cancer genes, and any one patient's tumour is driven by only a few of them. That makes targeted sequencing panels sensible, but because most drivers are lost tumour suppressors, drugs exist for only a minority, which is why the same group turned to early detection.
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not linked directly; found by shared links- PersonSerena Nik-Zainal
Shares Cancer genome landscapes: about 140 driver genes, and each tumour needs only a handful, Whole-exome & whole-genome sequencing and the tags genomics, mutational-signatures.
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Shares Martincorena: normal sun-exposed skin is a patchwork of cancer-mutation clones, Cancer genome landscapes: about 140 driver genes, and each tumour needs only a handful.
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Shares Whole-exome & whole-genome sequencing and the tag genomics.