Molecular Testing of Cancer by Integrated Genomic, Transcriptomic, and Proteomic Analysis

Complex, progressive, multigenic, somatic mutations of the genome are now widely accepted as
the primary driving force in the evolution of cancer initiation, growth, metastasis and
pharmacoresistance. Different types of tumors are associated with mutations in distinct sets
of genes, and there is a pressing need for a sequencing-based method of analyzing panels of
candidate genes that differ for each tumor type.

Traditional approaches to sequence analysis employing capillary electrophoresis-based Sanger
sequencing are widely used to guide therapy for patients with lung and colorectal cancer and
for melanoma, sarcomas, leukemias and lymphomas. This technology is limited in throughput,
scalability, speed, and resolution. The emerging technology such as next-generation
sequencing (NGS) - holds a number of advantages over traditional methods, including the
ability to fully sequence large numbers of genes in a single test and simultaneously detect
deletions, insertions, copy number alterations, translocations, and exome-wide base
substitutions in all known cancer-related genes.

Sequencing the whole genome is financially prohibitive for many potentially valuable
applications. One alternative to whole genome methods is target enrichment, such as exome
sequencing, which captures and sequences only protein coding regions. The exome represents
1-2% of the human genome; however contains the vast majority of disease causing alterations.
In addition to exome sequencing, full-length transcriptome (mRNA) sequencing offers a fast
and inexpensive alternative. It is an easier method to identify coding sequences and capture
variants in genes that are expressed, as well as to generate additional information, such as
gene expression level and splicing patterns.

The goal of this study is to investigate genomic, transcriptomic and proteomic alterations
in human solid cancers and hematologic malignancies.

Patients >18 y.o. diagnosed with cancer (including any solid tumor or hematologic
malignancy) or patients who are undergoing a procedure for the diagnosis of a presumed
cancer are eligible.

The research analysis will be performed by the department of pathology or the division of
hematology oncology. The body/blood tissue analyzed will be from extra tissue/blood that is
not needed for diagnosis or evaluation of the patient's cancer. All samples will be
de-identified. Samples will be stored for an indefinite period of time or until all samples
are utilized.

Inclusion Criteria:

- Documented informed consent

- Patient has either a suspected or confirmed solid tumor or hematological malignancy

- There is enough tissue or body fluid to allow for experimental study

- The patient is over the age of 18

Exclusion Criteria:

- The patient is unwilling or unable to provide informed consent