Role of Genetics in Gynaecological Cancers

Abstract

Genetic testing for cancer susceptibility genes in gynaecologic oncology is expanding rapidly. All gynaecologists and gynaecological oncologists involved in the diagnosis and treatment of gynaecological cancer need to be able to understand the applicability and implications of genetics, counsel women about these issues and offer their patients genetic testing. Testing for cancer susceptibility genes at cancer diagnosis is now recommended for all women with ovarian cancer, endometrial cancer, and colorectal cancer. Identification of pathogenic variants (PVs) can affect treatment options for patients (for example PARPi therapy in women with ovarian cancer), as well enable cascade testing in their relatives. Unaffected individuals with PVs can avail of preventive therapy including risk reducing surgery, chemoprevention and screening for relevant cancers to reduce their cancer risk. Women can also make lifestyle, contraceptive and reproductive choices including pre-implantation genetic diagnosis impacting their cancer risk. In this chapter we discuss the common cancer susceptibility genes associated with women’s cancers, their cancer risks and risk management options; along with the cancer syndromes associated with gynaecological cancer. We also address the applicability of genetic testing at cancer diagnosis for women with ovarian and endometrial cancer and refer to the novel population testing approach now being implemented in the Jewish population.