Mutational landscape of ovarian carcinomas: An Australian study of 116 patients

Abstract

Understanding genetic biomarkers in ovarian cancer allows for access to targeted clinical management. This retrospective mutational analysis of 116 Australian patients with ovarian cancer complements the development of current knowledge on ovarian cancer biomarkers. In the 116 samples, nearly 500 variants were identified including 19 variants of strong clinical significance, 212 variants of potential clinical significance and 268 variants of uncertain clinical significance (VUS) as per the Association for Molecular Pathology (AMP) guidelines. The most frequently altered gene was TP53 which was altered in 75 % of tumours. Other commonly altered genes included PIK3CA, PTEN, ARID1A, KRAS and BRCA1. Moreover, the biggest differences in between mutational profile was observed in between tumour subtypes, more specifically in between HGSOC and endometrioid tumour. Minimal differences in mutational landscape were identified between primary and metastatic lesions, with only PTEN being significantly more prevalent in primary lesions. PTEN and ARID1A pathogenic variants were more frequently reported in younger patient group. These genetic markers could be used to support clinical care, providing information for diagnosis, prognosis and therapeutic option for the patient.