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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

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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
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Ana-Maria Simundic Croatia
Tommaso Trenti Italy
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Biomedia srl
Via L. Temolo 4, 20126 Milano

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Giuseppe Agosta

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

BC: Articoli scritti da M. Nunziato

Strategie di sequenziamento: l’esempio del tumore testicolare in un trio familiare
Genome sequencing strategies: the example of testicular cancer in a familial trio
M. Nunziato  | 
<p>Testicular cancer is the most common malignancy in men under the age of 50. In 1972 for the first time, the carcinoma in situ was mentioned and in particular the tumor of mixed germ cells in situ; this type of tumor, in fact, originates in the testicles but can also be found in other parts of the body. The diagnosis of these tumors involves the use of instrumental tests, usually carried out together with some laboratory tests including the determination of tumor markers; these, when increased, can be of help in indicating the presence of the disease. In recent years, there has been a sharp increase in the number of testicular cancer cases diagnosed especially in young males all over the world. Although the understanding of the molecular causes underlying this neoplasm is very limited, Next Generation Sequencing (NGS) strategies can help to shed light on complex and multifactorial pathologies such as in the case of testicular cancer. In addition, a new nucleic acid sequencing strategy is gaining ground: the third generation Oxford Nanopore Technology (ONT), which, allows to obtain a &ldquo;picture&rdquo; of the DNA in each individual as complete as possible, by providing very long genome sequences. The aim of this paper is to illustrate how the use of combined nucleic acid sequencing strategies has allowed to analyze the presence of mutations in a family trio where the boy (proband) was affected by testicular neoplasia. The combined sequencing of the genome and the methyloma can be of help in understanding the possible causative or predisposing mutations.</p>
Biochimica Clinica ; 46(4) 331
Opinioni - Opinions
La Fibrosi Cistica: comorbidità, geni modificatori e medicina di precisione
Cystic Fibrosis: comorbidities, modifier genes and precision medicine
M. Nunziato  | 
<p>Cystic Fibrosis (CF) is a serious genetic disease, autosomal recessive, monogenic, which equally involves males and females mainly of Caucasian populations (1 affected for every 2500 - 3000 newborns). The first symptoms are evident from birth or within 2 years of age with respiratory infections and growth difficulties which are, at first, the most evident signs. The genetic basis of CF has been definitively clarified with the identification of the disease-gene in 1989, and more than 2000 different mutations are known, today, throughout the gene. The clinical characteristics of the disease are very heterogeneous, its phenotyping turns out to be, in fact, multi-organs. Given the great complexity of the phenotypes associated with CF and the presence of many comorbidities, the question whether genetics, and therefore the presence of modifying/modulating genes of the phenotype, could play a role in the manifestation and in the severity of symptoms is of fundamental importance. Several linkage and Genome Wide Association (GWAS) studies have been useful in this context and to date there are a number of evidences of the presence of CF modifier genes. Personalized medicine, a continuously developing field, has allowed the development of numerous therapeutic strategies, also directed towards specific genomic mutations.</p>
Biochimica Clinica ; 45(2) 168-175
Opinioni - Opinions
Il premio Nobel 2020 per la Chimica: dal “gene editing” al “gene drive”
Biochimica Clinica ; 44(4) 327-329
Editoriale - Editorial
La biologia molecolare clinica nella valutazione e prevenzione del rischio cardiologico nell’attività sportiva e nell’attività motoria intensa
Clinical molecular biology in the assessment and prevention of cardiological risk in case of participation in sports activity and intense physical activity
<p>We review the clinical molecular biology approach for the prevention of cardiological diseases, essentially via risk assessment at personal level by DNA analysis. Intense physical activity, particularly during athletic performances, can result in syncope or even cardiac arrest, often followed by sudden<br />cardiac death. An approach to the prevention of such tragic events is predictive medicine (presence of pathogenic mutations in cardiac genes), besides the conventional tools used in cardiology (mainly electro and echocardiogram under stress conditions). Accordingly, we list the major cardiac diseases and their related genes and derivative proteins which are instrumental for normal heart function. Alterations can occur in ion channel genes, in genes<br />encoding desmosomial and junctional proteins, sarcomeric and Z-disc proteins, proteins for the cytoskeleton at the nuclear envelope, and in genes encoding mitochondrial proteins. Thus, we constructed two sets of gene panels: one set to discriminate among confounding heart diseases, and another set based on a cost-benefit criterion according to the most or less frequent genes bearing pathogenic variants that entail a higher or lower predisposing risk. This<br />approach should be used to monitor pre-participation athletes and also amateurs who belong to families in which at least 1-2 subjects are affected by cardiac alterations. The risk should be identified with the aim to monitor subjects in order to prevent cardiac arrest and even sudden cardiac death.</p>
Biochimica Clinica ; 43(1) 024-043
Rassegne - Review
Il ruolo di tecniche di sequenziamento genico ad elevata produttività per la diagnosi molecolare dei tumori ereditari della mammella
Role of next generation sequencing technologies for the molecular diagnosis of hereditary breast cancers.
<p>Breast cancer (BC) is still the most common tumor in women worldwide. Up to 20-25% of all BCs are of hereditaryfamilial nature and can be related to germline predisposing-mutations of which the most relevant are present in the high penetrance-genes BRCA1 and BRCA2. These mutations escalate the lifetime risk of BCs and also of other cancers. Thus, their early identification in tumor-prone family members is important to improve the clinical management of patients and their families. In addition, despite their high penetrance, only a small fraction of patients carry BRCA1 or BRCA2 mutations. This suggests that familial BCs may be related to germline mutations in other high-, moderate- and low-penetrance cancer genes. Consequently, the request for laboratory methods able to detect cancer-related pathogenic mutations in a short time and with high accuracy and sensitivity is raised. Recent technological advances in next generation sequencing (NGS) methods development are showing their potential also in this field. Indeed, NGS-based approaches are now currently used for BRCA genes analysis superseding conventional approaches. Moreover, the possibility to simultaneously sequence a panel of target genes is effective to further investigate patients with a personal and/or family history suggestive for an inherited BCs but with no mutations after BRCA molecular test. Implementation of this second-level molecular screening in routine diagnostic workflow will increase the diagnostic sensitivity and improve the management of both patients and their families. In addition, these methodologies could lead to the identification of other BC-related genes, thereby increasing knowledge about hereditary BCs molecular bases.</p>
Biochimica Clinica ; 42(4) 285-293
Rassegne - Reviews
Indicazioni e limiti della diagnosi genetica preimpianto
Indications and limitations for preimplantation genetic diagnosis
<p>The preimplantation genetic diagnosis allows to identify genetic disease and chromosomal alterations in early stages of embryonic development, giving the opportunity to overcome the risk of transmitting an inherited disease and to improve the efficiency of in vitro fertilization techniques. In this paper, we provide an overview of indications and of the advantages and limits of techniques used to perform the preimplantation genetic diagnosis. We describe the multiplex-polymerase chain reaction (PCR) and the karyomapping for the genetic diagnosis of inherited disease as well as the comparative genomic hybridization array, the qualitative real-time PCR and the next generation sequencing for the screening of chromosomal aneuploidy.</p>
Biochimica Clinica ; 41(4) 314-321
Rassegne - Reviews