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Open AccessArticle

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome

1
Molecular and Genomic Diagnostics Laboratory, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
2
Department of Biochemistry Catholic University of Rome, 00168 Rome, Italy
3
Division of Gynecologic Oncology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
4
Division of Medical Oncology A, Policlinico Umberto I, Sapienza University of Rome, 00168 Rome, Italy
5
Department of Clinical and Experimental Medicine, University of Foggia, 71121 Foggia, Italy
6
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università Federico II, 80131 Naples, Italy
7
CEINGE, Advanced Biotechnology, 80131 Naples, Italy
*
Author to whom correspondence should be addressed.
Shared first position.
Cancers 2020, 12(5), 1286; https://doi.org/10.3390/cancers12051286
Received: 7 April 2020 / Revised: 13 May 2020 / Accepted: 16 May 2020 / Published: 19 May 2020
Pathogenic variants (PVs) carriers in BRCA1 or BRCA2 are associated with an elevated lifetime risk of developing breast cancer (BC) and/or ovarian cancer (OC). The prevalence of BRCA1 and BRCA2 germline alterations is extremely variable among different ethnic groups. Particularly, the rate of variants in Italian BC and/or OC families is rather controversial and ranges from 8% to 37%, according to different reports. By In Vitro Diagnostic (IVD) next generation sequencing (NGS)-based pipelines, we routinely screened thousands of patients with either sporadic or cancer family history. By NGS, we identified new PVs and some variants of uncertain significance (VUS) which were also evaluated in silico using dedicated tools. We report in detail data regarding BRCA1/2 variants identified in 517 out of 2351 BC and OC patients. The aim of this study was to report the incidence and spectrum of BRCA1/2 variants observed in BC and/or OC patients, tested in at Policlinico Gemelli Foundation Hospital, the origin of which is mainly from Central and Southern Italy. This study provides an overview of the variant frequency in these geographic areas of Italy and provides data that could be used in the clinical management of patients. View Full-Text
Keywords: next-generation sequencing; novel variants; BRCA1/2 next-generation sequencing; novel variants; BRCA1/2
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MDPI and ACS Style

Santonocito, C.; Rizza, R.; Paris, I.; De Marchis, L.; Paolillo, C.; Tiberi, G.; Scambia, G.; Capoluongo, E. Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome. Cancers 2020, 12, 1286.

AMA Style

Santonocito C, Rizza R, Paris I, De Marchis L, Paolillo C, Tiberi G, Scambia G, Capoluongo E. Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome. Cancers. 2020; 12(5):1286.

Chicago/Turabian Style

Santonocito, Concetta; Rizza, Roberta; Paris, Ida; De Marchis, Laura; Paolillo, Carmela; Tiberi, Giordana; Scambia, Giovanni; Capoluongo, Ettore. 2020. "Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome" Cancers 12, no. 5: 1286.

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