Key points are not available for this paper at this time.
The information between the phenotype and genotype in ovarian cancer (OC) carrying a BRCA mutation (BRCAmut) has been the subject of some publications in recent years. Rebbeck's work reports a mapping of the BRCA1 and 2 genes in which several areas are found that function as association clusters with a greater risk of suffering from OC. To date, it has not been reported whether the mutations that affect these areas have a prognostic impact on patients affected by BRCAmut CO or on the results of treatment with IPARP. 283 patients with ovarian cancer treated in our unit between 2011 and 2023 with a mutational study that includes the BRCA genes are reviewed. The clusters with higher risk of ovarian cancer are defined as follows: BRCA1: c.1380-4062aa BRCA2: c.3249-5681aa and c.6645-7471aa. In the log-rank test, there is a tendency towards significance (p: 0.071) of a worse prognosis of patients carrying mutations in the association cluster with OC. Among the patients who received iPARP, there were no statistically significant differences between both groups (p:0.69), although the number of patients in the group with mutations in the CO cluster was only 3 patients.Table: 61PPatients' clinical dataNumber of patients49Median age (years)55Histological types (N, %)High grade serous carcinoma42 (85,8%)High grade endometrioid carcinoma4 (8,2%)Mucinous carcinoma1 (2%)Carcinosarcoma1 (2%)Undifferentiated carcinoma1 (2%)Stage at diagnosisI4 (8,2%)II2 (4.1%)III29 (59,2%)IV14 (28,5%)BRCAmutBRCA127 (55,2%)Ovarian cluster6 (22,2%)BRCA222 (44,8%)Ovarian cluster1 (4,5%)iPARP treatment33 (67.3%)Olaparib28 (84.8%)Niraparib5 (15,2%) Open table in a new tab A trend towards significance is seen regarding the worse prognosis conferred by the BRCA mutation located in the OC association cluster. Treatment with iPARP seems to compensate for this point, at least partially. A larger number of patients is necessary to validate this hypothesis, for which national registry work launched in various countries, or even collaboration between them, can be a very useful tool.
Torres-Mozas et al. (Sat,) studied this question.