e12548 Background: Germline genetic testing referral of HBOC syndrome and relevant cancer patients is being undertaken using criteria that maximize the probability of finding a disease-causing variant and its actionability. In young onset breast cancer (BC, ≤50 y), invasive epithelial non-mucinous ovarian cancer, metastatic or node positive prostate cancer and exocrine pancreatic cancer, germline genetic testing is universally accepted. Genetic testing in older onset BC patients (>50 y) uses strict clinical criteria like triple negative phenotype or bilateral BC and the presence of family history (FH). This study investigated genetic differences between young- and older-onset HBOC patients to estimate whether the threshold of the likelihood of finding a disease-causing variant can be lowered. Methods: In this study we characterized the mutational landscape of a total of 7.694 suspected HBOC related syndrome individuals, that were referred- regardless of age and FH- for multigene genetic testing using NGS technology, during the period 2020-2024 in GENEKOR MEDICAL S.A. Among the examined individuals, 1,677 (21.8%) were carriers of a pathogenic/likely pathogenic variant and the reason of referral was breast cancer in 90.6%, ovarian cancer in 14.7%, pancreatic cancer in 3.50% and prostate cancer in 1.5% of the cases. Results: Among young BC patients the highest proportion of pathogenic variants were identified in BRCA1 (21%), CHEK2 (17.2%), BRCA2 (14.5%), ATM (5.5%) and PALB2 (3.8%), while FH does not change the landscape of genes mutated. In older BC patients the percentages were modified as following: BRCA2 (14.6%), CHEK2 (14.2%), BRCA1 (13.4%), PALB2 (3.8%) and ATM (5.6%). Even without FH, pathogenic variants, were still detected but in slightly lower percentages in the following genes CHEK2 (7.7%), BRCA1 (7.7%) and PALB2 (7.7%) in this cohort. Conclusions: The results of this study provide some evidence that the mutational landscape among young-onset BC patients is not different from those of older-onset BC patients, even when taking FH into account. Following strictly the age limit cut-off combined with FH as proposed by international guidelines would result in overlooking 1% of gene-testing positive BC patients and defective management of their families.
At the moment, there are no available data or studies exploring the production of naphtha boiling range hydrocarbons via hydroprocessing of pretreated residual lipids. To that aim, this study targets the production of naphtha, jet and diesel boiling range hydrocarbons via hydroprocessing of refined waste cooking oils utilizing solar hydrogen. The technology was first optimized in a TRL-3 plant. A heteroatom removal catalyst and a saturation catalyst were combined with an isomerization and hydrocracking catalyst to upgrade lipids. The results show that the severity of the process plays an important role in the yields of the fuels. Higher naphtha yields were observed at 663 K, 13.78 MPa and a liquid hourly space velocity of 0.33 h−1, leading to the production of a fuel consisting of 34 wt% naphtha, 23 wt% jet and 42 wt% diesel boiling range hydrocarbons. Subsequently, the technology was validated and demonstrated in an industrially relevant unit (TRL-5). The results from the fuel characterization show that the diesel fraction can be used as a high-quality road transport drop-in fuel, as it is characterized by a high cetane index (~96) and a high flash point (414 K). Although jet and naphtha meet most commercial fuel specifications, further optimization of the process is necessary to meet fuel standards. In conclusion, the current work provides novel data relevant to industrial applications for road, aviation and maritime fuel production via hydroprocessing of refined waste cooking oil.
