MLPA). Constitutional RB1 variants were identified in 100% (25/25) of the bilateral cases, while several common previously reported RB1 mutations were also recorded. In addition, in Vietnamese patients with RB, nine novel RB1 mutations were identified. Children aged between 0-36 months were more likely to be RB1 carriers compared with those aged >36 months. The current findings indicated that the NGS method implemented in the Vinmec Hi-Tech Center was highly accurate, and age at diagnosis may be used to assess the risk of hereditary RB. Furthermore, the newly identified RB1 mutations may provide additional data to improve the current understanding of the mechanisms underlying RB1 inactivation and the development of rapid assays for detecting RB1 mutations. Overall, the present study suggested that NGS may be applied for detecting germline RB1 mutations in routine clinical practice.

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Results: Parity was associated with 78% decreased risk of cause-specific mortality in 243 women with germ cell tumors (GCTs); adjusted for age at diagnosis. Especially malignant teratomas seem to be less deadly among parous women. Among women diagnosed with malignant teratomas at age 30 years and older (n¼77), 6% of the parous women died of their disease, compared with 23% of the nulliparous women (p¼0.03). We found no evidence of associations between parity and cause-specific mortality among the 334 patients with sex cord-stromal tumors, nor among the 3214 patients with epithelial ovarian cancer; neither overall, nor by subtype. Table: 762P Associations between parity and cause-specific mortality among patients with ovarian germ cell tumors in Sweden 1990-2018. Hazard ratio (HR) and 95% confidence intervals (CIs) from Cox regression models, adjusted for age at diagnosis Parity (ever) n Mean age at diagnosis HR 95% CI (p-value) No 135 27 years 1.00 Ref Yes 108 38 years 0.22 0.07-0.62 (p¼0.005) Per birth 0.60 0.38-0.95 (p¼0.03) .Conclusions: In this large, population-based study, parity was associated with better prognosis in GCTs but not in the other ovarian cancer subtypes, potentially indicating that parous women develop less aggressive GCTs. Future research on how hormone exposure impact on GCT development may lead to better understanding of potential mechanisms affecting survival.Legal entity responsible for the study: The authors.

Methods: XmaI-RRBS dataset for 34 TNBC biopsies taken prior to NAC was used. Virtual amplicons were designed under the following criteria: at least two MSRE (BstHHI and/or HpaII) recognition sites within the amplicon, the amplicon length no more than 100 bp to provide high MSRE-qPCR efficiency, the average difference in the methylation level between adjacent CpG pairs no more than 10%. To select amplicons, MSRE sites were hierarchically clusterized with the distance metric of physical distance over the genome and the difference in their methylation level, followed by complete-linkage agglomeration to prevent lengthening of amplicons via chaining phenomenon. Diagnostic potential was assessed with cross-validated AUC. Markers with AUC 75% were selected to form panels.Results: Genes APCDD1L, RUSC1-AS1, MYO15B, EXOC2, THBS2, MXRA5, ANKRD64 were selected to form possible combinations of markers. Eventually, 120 combinations of amplicons panels that discriminate NAC response were obtained and top-10 are shown in the table.