Limoncella of Mattinata, a rare and ancient Mediterranean citrus fruit, was investigated by sequence analysis of the ribosomal internal transcribed spacer regions, which assigns it as a variety of Citrus medica L. Morphological, chemical, and biomolecular approaches were used to characterize flavedo and albedo, parts usually rich of bioactive compounds. The morphological findings showed albedo and flavedo cellular structures as “reservoirs” of nutritional components. Both albedo and flavedo hydroalcoholic extracts were rich in polyphenols, but they were different in compounds and quantity. The flavedo is rich in p-coumaric acid and rutin, whereas the albedo contains high levels of hesperidin and quercitrin. Antioxidant, anti-inflammatory, and genoprotective effects for albedo and flavedo were found. The results confirmed the health properties of flavedo and highlighted that albedo is also a rich source of antioxidants. Moreover, this study valorizes Limoncella of Mattinata's nutritional properties, cueing its crops' repopulation.

(1) Background: the NGS based mutational study of hereditary cancer genes is crucial to design tailored prevention strategies in subjects with different hereditary cancer risk. The ease of amplicon-based NGS library construction protocols contrasts with the greater uniformity of enrichment provided by capture-based protocols and so with greater chances for detecting larger genomic rearrangements and copy-number variations. Capture-based protocols, however, are characterized by a higher level of complexity of sample handling, extremely susceptible to human bias. Robotics platforms may definitely help dealing with these limits, reducing hands-on time, limiting random errors and guaranteeing process standardization. (2) Methods: We implemented and validated the complete automation of the SOPHiA GENETICS’ CE-IVD Hereditary Cancer Solution™ (HCS) libraries preparation workflow on the Hamilton’s STARlet platform. (3) Results: We demonstrate that this automated workflow, used for more than 1000 samples achieved the same performances of manual setup in terms of coverages and reads uniformity, with extremely lower variability of reads mapping rate onto the regions of interest. (4) Conclusions: This automated solution offers same reliable and affordable NGS data, but with the essential advantages of a flexible, automated and integrated framework, minimizing possible human errors and depicting a laboratory’s walk-away scenario.

Next Generation Sequencing based cancer risk screening with multigene panels has become the most successful method for programming cancer prevention strategies. ATM germ-line heterozygosity has been described as able to increase tumor susceptibility. In particular, families that carry heterozygous germ-line variants of ATM gene show a 5- to 9-fold risk of developing breast cancer. Recent studies identified ATM as the second most mutated gene after CHEK2 in BRCA-negative patients. Nowadays, more than 170 potential missense variants and several truncating mutations have been identified in ATM gene. Here we present the molecular characterization a new ATM deletion, identified thanks to the CNV algorithm implemented in the NGS analysis pipeline. An automated workflow implementing the SOPHiA Genetics’ Hereditary Cancer Solution (HCS) protocol was used to generate NGS libraries that were sequenced on Illumina MiSeq Platform. NGS data analysis allowed to identify a new inactivating deletion of exons 19-27 of ATM gene. DNA breakpoint was characterized both at DNA and RNA level