Recent years have seen tremendous progress in cancer genome sequencing. Since the completion of the Human Genome Project in 2003 many mutations have been identified that are associated with cancer, and targeted therapies have been developed as a result. On 2nd–3rd November 2012, BMC Medicine attended the Unanswered Questions in Cancer Sequencing symposium hosted by the Cancer Research UK Cambridge Research Institute. The meeting focused on recent progress in sequencing various cancer types, and each session concluded with a panel discussion on the questions that are yet to be addressed.
The first session, Cancer genome sequencing, opened with a discussion on exome sequencing of breast cancer by Mike Stratton, director of the Wellcome Trust Sanger Institute. Sean Grimmond from the University of Queensland highlighted progress made in pancreatic cancer genomics, and discussed how sequencing results are being applied in the clinic with the ongoing Individualised Molecular Pancreatic Cancer Therapy (IMPaCT) trial. Carlos López-Otín, co-director of the Chronic Lymphocytic Leukemia (CLL) genome project, described how the identification of genomic alterations in CLL will help to stratify patients and identify new therapeutic targets.
Ewan Birney, Associate Director of the European Bioinformatics Institute, chaired the second session entitled Challenges facing the computational biology of cancer sequencing. This session addressed challenges such as assessing the clinical relevance of sequence variants and cataloging genetic variants in the 1000 Genomes project. Elaine Mardis from Washington University in St. Louis gave a very interesting presentation on the use of deep digital sequencing to measure the mutation frequency of a tumor, which can be applied in the clinic to monitor the evolution of therapy resistance. A thought-provoking panel discussion followed on the difficulties associated with translating bioinformatic information into patient care, and the importance of sequencing tumors in an appropriate time frame to benefit patients.
Day two began with a discussion on strategies to overcome resistance to PI3 kinase-targeted breast cancer therapy by Lori Friedman from Genentech, which kicked off the third session on The impact of cancer sequencing on medicine. Peter Lichter gave an interesting presentation on sequencing pediatric brain tumors, highlighting how glioblastoma can be classified into different subgroups based on the mutations responsible. Nitzan Rosenfeld from the Cambridge Research Institute presented data on circulating tumor DNA as a blood-based biomarker for cancer progression, which could potentially lead to fewer invasive biopsies in the future. Bruce Ponder, director of the Cambridge Research Institute, concluded the session with an interesting discussion about how genetic information can be used to stratify women into high and low risk for breast cancer, which could have implications for whether they should undergo screening.
The final session, Functional Genomics of cancer, addressed genetic and genomic mechanisms of tumorigenesis and therapy resistance. Carlos Caldas, Editorial Board Member for BMC Medicine and Section Editor for BMC Cancer, presented very interesting data on the molecular profiling of breast cancer, and emphasized that patients’ molecular information should be taken into account in clinical trials.
The symposium brought together progress in genome sequencing across the different types of cancer, and many speakers highlighted the importance of monitoring patients’ molecular profiles in order to elucidate mechanisms of treatment resistance and identify new therapeutic targets. In recognition of these important advances, BMC Medicine continues to publish research, reviews and debates in our ongoing article collection, Personalized medicine: genes, biomarkers and tailored treatment.