期刊
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
卷 105, 期 42, 页码 16224-16229出版社
NATL ACAD SCIENCES
DOI: 10.1073/pnas.0808041105
关键词
amplification; copy number changes; Digital Karyotyping; high-density SNP arrays; homozygous deletion
资金
- Virginia and D. K. Ludwig Fund for Cancer Research
- National Institutes of Health [CA121113, CA 57345, CA 43460, CA 109274]
- National Cancer Institute Division of Cancer Prevention [HHSN261200433002C]
- Pew Charitable Trusts
- Avon Foundation
we have performed a genome-wide analysis of copy number changes in breast and colorectal tumors using approaches that can reliably detect homozygous deletions and amplifications. We found that the number of genes altered by major copy number changes, deletion of all copies or amplification to at least 12 copies per cell, averaged 17 per tumor. We have integrated these data with previous mutation analyses of the Reference Sequence genes in these same tumor types and have identified genes and cellular pathways affected by both copy number changes and point alterations. Pathways enriched for genetic alterations included those controlling cell adhesion, intracellular signaling, DNA topological change, and cell cycle control. These analyses provide an integrated view of copy number and sequencing alterations on a genome-wide scale and identify genes and pathways that could prove useful for cancer diagnosis and therapy.
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