Many types of tumors exhibit chromosomal losses or gains, as well as local
amplifications and deletions. Within any given tumor type, sample specific
amplifications and deletionsare also observed. Typically, a region that is
aberrant in more tumors,or whose copy number change is stronger, would be
considered as a more promising candidate to be biologically relevant to cancer.
We sought for an intuitive method to define such aberrations and prioritize
them. We define V, the volume associated with an aberration, as the product of
three factors: a. fraction of patients with the aberration, b. the aberrations
length and c. its amplitude. Our algorithm compares the values of V derived
from real data to a null distribution obtained by permutations, and yields the
statistical significance, p value, of the measured value of V. We detected
genetic locations that were significantly aberrant and combined them with
chromosomal arm status to create a succint fingerprint of the tumor genome.
This genomic fingerprint is used to visualize the tumors, highlighting events
that are co ocurring or mutually exclusive. We allpy the method on three
different public array CGH datasets of Medulloblastoma and Neuroblastoma, and
demonstrate its ability to detect chromosomal regions that were known to be
altered in the tested cancer types, as well as to suggest new genomic locations
to be tested. We identified a potential new subtype of Medulloblastoma, which
is analogous to Neuroblastoma type 1.Comment: 34 pages, 3 figures; to appear in Cancer Informatic