Textbook of Personalized Medicine - Second Edition [2015]

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number and sequence data also holds promise for determining whether particular
point mutations have a functional effect, the researchers noted. For example, if a
gene turns up with a deletion in one sample and a point mutation in another, it could
indicate that that point mutation is inactivating. Incorporating information on other
genome-wide changes such as translocations and epigenetic changes could provide
even greater insight into cancer, as will trying to determine the timing with which
genetic alterations occur in cells. These analyses could prove useful for cancer per-
sonalizing diagnosis and therapy. For example, two-thirds of the breast and colorec-
tal samples tested in the study contain alterations to four key signaling pathways,
suggesting that drugs targeting these pathways could prove useful for treating both
breast and colorectal cancers. Since several breast cancer samples tested contained
changes to DNA topological pathways, some of these tumors may be candidates for
topoisomerase-targeted therapies.


International Cancer Genome Consortium


In 2008, Research organizations from around the world launched the International
Cancer Genome Consortium (ICGC), which will have an impact on personalized
management of cancer. ICGC aims to generate high-quality genomic data on up to
50 types of cancer through efforts projected to take up to a decade. The web site
( http://www.icgc.org/ ) displays ICGC White Paper, detailing its policies and guide-
lines. ICGC invites research organizations in all nations. Current ICGC members
include:



  • Australia: National Health and Medical Research Council (Observer Status)

  • Canada: Genome Canada; Ontario Institute for Cancer Research

  • China: Chinese Cancer Genome Consortium

  • Europe: European Commission (Observer Status)

  • France: Institute National du Cancer

  • India: Department of Biotechnology, Ministry of Science & Technology

  • Japan: RIKEN; National Cancer Center

  • Singapore: Genome Institute of Singapore

  • United Kingdom: The Wellcome Trust; Wellcome Trust Sanger Institute

  • United States: NIH


Each ICGC member intends to conduct a comprehensive, high-resolution analy-
sis of the full range of genomic changes in at least one specifi c type or subtype of
cancer, with studies built around common standards of data collection and analysis.
Each project is expected to involve specimens from 500 patients and have an esti-
mated cost of $20 million. As part of its coordination efforts, the ICGC will gener-
ate a list of 50 cancer types and subtypes that are of clinical signifi cance around the
globe. ICGC members plan to assume responsibility for specifi c cancers, and one
of the ICGC’s roles would be to facilitate the exchange of information to avoid
duplication of participants’ efforts. The ICGC’s main criteria for prioritizing cancer
types include: impact, incidence, age of onset, mortality rates, and availability of


10 Personalized Therapy of Cancer
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