670 BRCA1–2 mutation prevalence in ovary epithelial cancer in Las Palmas

Abstract

<h3>Introduction/Background*</h3> Ovarian cancer represents 3% of all female tumors,with a high mortality rate since about 70% are diagnosed in advanced stages.At least 20% of ovarian cancers are inherited. Genes whose mutations are associated with an increased risk of ovarian cancer are BRCA1 and BRCA2. With all that,facing late diagnosis and poor prognosis,it is necessary to get a better understanding of the etiopathogenesis of ovarian cancer and to develop new and more efficient tools to prevent, detect and treat this disease. Genetics may be the way to do so. <h3>Methodology</h3> Retrospective study of patients diagnosed and treated for epithelial ovarian cancer in CHUIMI between 2006 and 2019. Different epidemiological variables and the BRCA 1 and BRCA 2 genetic study in germinal and somatic lines were collected. <h3>Result(s)*</h3> The total number of patients diagnosed with ovarian cancer was 524, with a mean age 57.9 years (range 17-88 years). 69.8% were in advanced stages at diagnosis (Stage I 23.9%, Stage II 6.3%, Stage III 54.1% and Stage IV 15.7%). 50.5% had a family history of cancer, of these, 76% were hereditary cancers (38% breast cancer (n = 98), 15.6% colon cancer (n = 40), 14.9% digestive cancer (n = 38 pancreas, gastric, intestine) and 6.2% ovarian cancer (n = 16). 11% had a personal history of cancer, the most frequent was breast cancer representing 4% (n = 21), followed by endometrial cancer. A germinal-somatic BRCA1/2 study was performed in 141 patients, a pathogenic variant was detected in 24% (n = 34); being more frequent in BRCA1, 66%. The mean age at diagnosis of patients with a pathogenic mutation was 53 years versus 55.1 years in negative BRCAs. <h3>Conclusion*</h3> We saw in our population a 24% of BRCA1/2 pathogenic variants in patients with epithelial ovarian cancer in advanced stages. This data is similar to what is published in the literature.The diagnosis of hereditary ovarian cancer allows us to implement more efficient measures to prevent cancer in family members. Knowing BRCA status is a very important factor to plan the therapeutic strategy in ovarian cancer.