Abstract
Objectives The causes of ovarian cancer (OC) have been confirmed to be closely related to genetic factors. Identifying sequence variants of hereditary ovarian cancer (HOC) susceptibility genes can increase clinical surveillance, facilitate early detection, and provide personalized treatment for patients. This study is aimed at investigating the variation frequency of HOC susceptibility genes in the Chinese population and providing information for the etiology and genetics of OC. Methods 118 epithelial OC patients were recruited in this clinical study. Variants of 18-gene panel were detected in blood samples by next-generation sequencing (NGS) technology. Results Overall, 36.44% (43/118) of patients carried at least one pathogenic variant. Among these, BRCA1 pathogenic variants were detected in 31 (26.27%) patients, and 5 (4.24%) patients carried pathogenic variants of BRCA2. Moreover, 27.12% (32/118) of patients carried variants of unknown significance (VUSs). Importantly, we detected eight variants that were not reported previously. Conclusions Our study enlarged the spectrum of HOC-associated gene sequence variants in the Chinese population and also proved the necessity of multigene testing in epithelial OC patients. The identification of patients with HOC will allow family members to undergo cascade testing where identification of unaffected carriers can facilitate early detection, risk reduction, or prevention of OC and ultimately improve long-term outcomes.
Highlights
The average annual ovarian cancer (OC) incidence rate was 9.5 per 100,000 women in 2013–2017 in Asians [1]
The National Comprehensive Cancer Network (NCCN) guidelines clearly indicate that high-penetrance OC susceptibility gene testing should be provided for patients with epithelial OC diagnosed at any age [11]
118 patients were screened for the presence of sequence variants in 18 HOCassociated genes
Summary
The average annual ovarian cancer (OC) incidence rate was 9.5 per 100,000 women in 2013–2017 in Asians [1]. The National Central Cancer Registry of China estimated that in 2015, approximately 52,100 people in China were newly diagnosed with OC, and 22,500 people died from the disease [2]. Due to the development of diagnostic capabilities, the number of newly diagnosed cases each year is increasing gradually. Epithelial cancers are most common among OC, accounting for 90% of all cases [3]. Based on tumor cell histology, epithelial carcinoma can be classified into serous (52%), endometrioid (10%), mucinous (6%), clear cell (6%), and unspecified subtypes. The 5% death rate makes it the fifth leading cause of cancer-related deaths in women [4].
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