The Genomics Education Programme is delighted to present a special three-part educational programme on how to read the cancer genome, presented by Professor Serena Nik-Zainal.
The second part of the series focuses on tertiary analysis beyond driver mutations and explores mutational signatures, including signature extraction and assignment.
In case you missed it - Part 1 is available to view here: • How to Read a Cancer G...
Professor Nik-Zainal is an NIHR research professor and an honorary consultant in clinical genetics. Professor Nik-Zainal is a celebrated leader in somatic cancer research and has spearheaded work into mutational signatures and their application to clinical practice.
TIMESTAMPS
00:00 Start
04:50 Overview and webinar one recap
06:28 What are cancer mutational signatures and why are they important?
09:04 Mathematical concepts to define mutational signatures
12:38 What do mutational signatures look like (with examples)?
16:15 Extracting and checking mutational signatures
20:23 Caveats to extraction
24:10 Assigning mutational signatures to samples
29:12 Examples
33:22 Clinically relevant signatures summary table
35:22 Mutational signatures: HR deficiency
41:17 Mutational signatures: MMR deficiency
45:12 Mutational signatures: POLE dysregulation
49:05 Mutational signatures: MBD4 mutated cancers
51:03 Mutational signatures: NTHL1 loss
51:18 Mutational signatures: Biallelic MUTYH mutation
55:10 Mutational signatures: Long tandem duplicators
56:12 Mutational signatures to watch out for
57:36 Acknowledgements and Q&A