How is genomics used to diagnose and monitor ovarian cancer?

David A. Fishman, MD
Gynecologic Oncology
Genomics is a branch of biotechnology that focuses on deoxyribonucleic acid (DNA) sequencing and genetic mapping of a specific organism using high-speed genetics and molecular biology techniques. In ovarian cancer research, genomics seeks to determine the presence of single gene products or genetic mutations conferring increased risk of developing malignancy, whether inherited or acquired.

Genomics may quantitatively evaluate genetic expression, such as using antibody micro-arrays (a method to evaluate a myriad of genes). It also seeks polymorphisms that may be associated with differential response to therapy (e.g., breast cancer gene 1 [BRCA1] or breast cancer gene 2 [BRCA2]). DNA sequencing is a genomic tool that is used in cancer research. It facilitates discovery of new biomarkers (cellular, biochemical and molecular characteristics used in screening, early diagnosis, prognosis, tracking treatment response or recurrence of disease) with potential in disease diagnosis as well as characterization of mutations in genes of interest.

Furthermore, sequencing of diagnostic markers is part of clinical patient management in finding variants in DNA sequences, as well as gene insertions or deletions that are specific to the tumor. Others include single nucleotide polymorphism (SNP) arrays, differential methylation hybridization (DMH), and comparative genomic hybridization (CGH). Tools evaluating gene expression profiles, specifically complementary DNA (cDNA) microarrays and oligonucleotide arrays, have been the preferred method of studying ovarian cancer of late stages.

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