Andy Futreal

Dr. Andy Futreal

Wellcome Trust Sanger Institute

Andy is Head of Cancer Genetics and Genomics at the Institute and is joint head of the Cancer Genome Project. His focus is on the molecular genetics of cancer and the identification of cancer-causing genes.

Andy's research interests are in investigating the molecular genetics of human disease, most specifically focused on cancer.

His work before coming to Wellcome Trust Sanger Institute was most heavily focused on identification of susceptibility genes for breast and ovarian cancers and on characterising somatic genetic alterations in breast cancer and gynaecologic malignancies. In addition to the main focus of work in the Cancer Genome Project on identification of somatic mutations in human cancer via large-scale genomic approaches, other interests included the application of molecular genetics to potential elucidation of therapeutic targets in cancer, the potential role of somatic genetics in patient stratification to conventional cancer therapies and the functional investigation of mutations identified in the Cancer Genome Project. Additionally, Andy has an ongoing interest in other human disease gene identification, in particular for X-linked diseases - currently under study in the lab. With regards to the X-linked disease project, the team has, to date, identified iDLG3, ZDHHC9, CUL4B, AP1S2, MED12, and RPS6KA3 as novel genes for X-linked mental retardation; FRMD7 mutations as causal in congenital nystagmus; and mutations in the EDA gene in X-linked dominant incisor hypodontia. In addition, Andy is interested in developing our platforms for investigating the genetic aetiology of rare, essentially orphan, monogenic disorders.

The Cancer Genome Project has been running now for seven years. In this time, the project has pioneered the use of large-scale exon resequencing as an approach to identifying cancer genes in various tumour types as exemplified by BRAF mutations in melanoma; colorectal and other cancers; ERBB2 mutations in non small-cell lung carcinoma; variant KRAS mutations in colorectal cancer; FBXW7 and PTEN mutations in T-cell acute lymphoblastic leukaemias. In addition, these efforts have begun to elucidate the complexity of cancer genomes at the sequence level and provided substantial evidence for there being a likely large number of relatively infrequently mutated genes which are contributing to cancer development. An example of this would be the contribution of FGFR2 point mutations in a variety of cancer types. All of these efforts will hopefully identify those genes and pathways which can be investigated for potential therapeutic exploitation. These efforts are also providing a solid base for developing larger-scale screens for mutations and, importantly, providing the framework for approaches that aim to re-sequence entire cancer genomes eventually providing for a nearly complete assessment of the complexity, challenges and potential opportunities to go from cancer genetics to cancer treatment.

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