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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
Maria Willrich USA
Paul Yip Canada

Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
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 F. Starnone

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