Genomic Applications in Gynecologic Malignancies

Abstract

Genomic approaches implemented in clinical practice to date for patients with gynecological cancers have been limited to human papillomavirus DNA testing, which is considered the molecular genetic basis of most cervical carcinomas, and to the identification of specific gene mutations associated with hereditary gynecological cancer syndromes such as BRCA1 and BRCA2 germline mutations in ovarian cancer patients. Over the past years, however, the advent of high-throughput genomic technologies allowed for substantial advances in our understanding of the molecular underpinning of sporadic gynecological malignancies, in particular of ovarian and uterine cancer, the two most frequently diagnosed malignancies of the female reproductive tract in the Western world. Genomic approaches applied to the study of these cancers have the potential to improve not only disease classification and diagnostic reproducibility but may also lead to the identification of novel prognostic and predictive subclasses of these diseases as well as novel therapeutic targets, ultimately providing an opportunity for the realization of precision medicine. This chapter focuses on recent advances in our understanding of endometrial carcinoma and uterine mesenchymal tumors with an emphasis on sarcomas, which are likely to affect clinical care in the near future, and we discuss the integration of genomic tests in the diagnostic armamentarium of these cancers.