Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals

Concetta Santonocito, Margherita Scapaticci, Donatella Guarino, Andrea Bartolini, Angelo Minucci, Paola Concolino, Giovanni Scambia, Ida Paris, Ettore Domenico Capoluongo

Risultato della ricerca: Contributo in rivistaArticolo in rivista

6 Citazioni (Scopus)


Objectives: Breast and/or ovarian cancers are complex multifactorial diseases caused by interaction of both genetic and non-genetic factors and characterized by predisposition to inheritance. BRCA1 and BRCA2 genes are the most clinically involved with these kinds of cancer and the spectrum of variants affecting these genes is very wide. In fact, point variants, large or small insertions/deletions, genomic rearrangements can be found in these patients, although a large number of variants with uncertain biological and clinical significance continues to be identified. Next-generation sequencing (NGS) technology is actually the most powerful tool for the discovering of causative mutations and novel disease genes, moreover it allows to make a rapid diagnosis of genetic variants giving fast, inexpensive and detailed genetic information. Material and methods: In this study, we report the screening of BRCA1 and BRCA2 genes on 1400 consecutive Caucasian patients with breast and/or ovarian cancer history or family risk, attending the oncogenetic ambulatory at the Foundation Policlinico Agostino Gemelli in Rome. Results: We describe twenty-nine novel BRCA1 and BRCA2 variants detected in Italian individuals suffering from hereditary breast and ovarian cancer syndrome (HBOC). Conclusion: Data regarding novel variants can provide useful information not only at epidemiological but also at clinical level, allowing for the better managing of breast and ovarian cancer patients and their family members. (C) 2017 Elsevier Ltd. All rights reserved.
Lingua originaleEnglish
pagine (da-a)74-78
Numero di pagine5
Stato di pubblicazionePubblicato - 2017


  • BRCA1 gene
  • BRCA2 gene


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