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Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

EIC Assistant
Francesco Busardò

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
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Giuseppe Agosta

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Chiara Riva
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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091

BC: Articoli scritti da G. L. Scaglione

Shallow Whole Genome Sequencing (sWGS) pipeline for the assessment of Homologous Recombination Deficiency (HRD) score in Hereditary Breast and Ovarian Cancer (HBOC) patients
<p>Introduction: the Homologous Recombination Repair (HRR) system is essential for DNA repair and genomic stability. Homologous Recombination Deficiency (HRD) arises upon the inactivation of several genes involved in HRR, and it is commonly observed in breast and ovarian cancer. The detection of HRD is a valuable tool of clinical relevance, indicative of sensitivity to agnostic therapy and DNA damaging reagents.&nbsp;<br />Methods: shallow Whole Genome Sequencing (sWGS) was performed on 26 ovarian cancer (OC) samples divided into training (n=13) and test group (n=13). The training set included 7 somatic and 6 germline carrying BRCA+ve (n=8) and BRCA-ve (n=5) status. In particular, the BRCA+ve were 3/7 somatic and 5/6 germline samples; the BRCA-ve were 4/7somatic and 1/6 germline. All samples were prepared using the KAPA HyperPlus Library Preparation kit (Roche), pooled and sequenced on NextSeq550 Dx (Illumina). Large-Scale Transitions (LST) profiles were calculated using WGS data at low coverage (&lt;1x) using different sliding window sizes spanning 10-1 000 Kbases. The HRD score was estimated using our bioinformatics pipeline.&nbsp;<br />Results: the BRCA status was assessed in 22/26 OC samples, and the HRD score was evaluated in all somatic samples. In the test group, 7 BRCA+ve samples were classified as HRD+ve, 2 BRCA-ve were classified as HRD-ve, and 4 BRCA unknown samples were predicted as HRD+ve in two cases and HRD-ve in the other half.&nbsp;<br />Discussion: germline BRCA1/2 mutation status is currently the main genetic biomarker of HRD, but it has its drawbacks: HRD can be driven purely by somatic events. A bioinformatics pipeline to evaluate the HRR system status in breast and ovarian cancer has been completed; it is based on sWGS to support therapeutics and follow up strategies.</p><p>&nbsp;</p>
Biochimica Clinica ; 46(3) 218-224
Contributi Scientifici - Scientific Paper
Studio preliminare del microbiota intestinale, cutaneo e della mucosa orale in pazienti affetti da Pemfigo Volgare e Pemfigoide Bolloso
Preliminary study of the microbiome in the gut, skin and oral mucosa of patients affected by Pemphigus Vulgaris and Bullous Pemphigoid
<p>Introduction: the study of the human microbiome is one of the most dynamic current topics in biomedical research. A significant challenge in this field is the development of cost effective method for a robust interrogation of microbiota composition. Advances in next-generation sequencing (NGS) technologies have allowed for efficient and molecular-based analysisof microbial communities. Association between diseases and imbalance of the microbial populationsare today wellinvestigated.<br />Methods: Pemphigus Vulgaris (PV) and Bullous Pemphigoid (BP) are two rare autoantibody-mediated blisteringskin diseases. In this pilot study, we characterized the intestinal, cutaneous and oral mucosal microbiota compositionsin PV/BP patients, in order to evaluate the potential role of the bacterial composition in these dermatologicaldisorders. Particularly, we performed a high-throughput sequencing analysis of the V3-V4 hypervariable regions of16S rRNA for the evaluation of bacterial composition of stool, skin and oral mucosa samples in PV (n=12) and BP(n=8) patients.<br />Results: a similar composition of the intestinal microbiota was observed in PV and BP patients. The evaluation of skin lesions revealed a prevalence of Firmicutes phylum in both patients&rsquo; groups. In the cutaneous microbiota, we identified a significant decreased abundance of Bacteroidetes phylum compared to healthy controls.<br />Conclusions: the results obtained from our standardized NGS pipeline, reinforced by correlation with other clinical and biochemicalparameters, will contribute to clarify the mechanisms of these rare diseases.</p>
Biochimica Clinica ; 43(4) 406-412
Contributi Scientifici - Scientific Papers