Approach to the genetic study of epithelial ovarian cancer

Hypothesis, objectives and methodology for the genetic study of epithelial ovarian cancer. Ovarian cancer is the gynaecological cancer with the highest mortality rate, with high-grade serous ovarian cancer accounting for 75% of this pathology, characterised by having an aggressive course and being diagnosed in advanced stages. One of the inclusion criteria according to the Spanish Society of Medical Oncology for high-risk hereditary breast and ovarian cancer syndrome (HOCCOS) is the diagnosis of non-mucinous high-grade epithelial ovarian cancer. HOCCOS has an autosomal dominant inheritance pattern in cancer susceptibility genes. Historically, the risk of SCMOH has been mainly linked to germline mutations in BRCA1/2. However, it is now also associated with tumour suppressor genes involved in DNA repair. High-grade ovarian cancer is evidenced by being genetically unstable and approximately 50% of these tumours present deficiency in DNA repair mechanisms by homologous recombination.