The Wellcome Trust Limited

Genome Research Limited

Mike Stratton

Richard Marais

Andy Futreal

Richard Wooster

Chris Marshall

Dominik Glodzik

Serena Nik-zainal

Richard Malcolm Marais

Serena Nik-Zainal

Richard M Institute Of Cancer Research Marais

Chris Institute Of Cancer Research Marshall

The present invention provides a method of detecting mutational signatures in a DNA sample. The invention relates to method of detecting signatures arising from rearrangements in the DNA in the sample and determining the contributions of known rearrangement signatures to said rearrangements. In particular embodiments, the contributions are determined by computing the cosine similarity between the rearrangement mutations in said catalogue and the rearrangement mutational signatures. The rearrangement signatures are classified based on whether they are clustered or not, whether they are tandem duplications, deletions, inversions or translocations and on the basis of their size.

Method of detecting a mutational signature in a sample

The invention relates to mutations in B-Raf gene products. The mutations described are identified in human tumors of natural origin. These mutations are associated with cancerous phenotypes and can be used as a basis for the diagnosis of cancer, cancerous cells or a predisposition to cancer in human subjects, and the development of anti-cancer therapeutics.

Methods for detection of the oncogenic T1796A B-Raf mutation

B-raf polynucleotides

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Hinxton, United Kingdom

Mike Stratton