TY - JOUR
T1 - Spectrum of germline BRCA1 and BRCA2 variants identified in 2351 ovarian and breast cancer patients referring to a reference cancer hospital of Rome
AU - Santonocito, Concetta
AU - Rizza, Roberta
AU - Paris, Ida
AU - De Marchis, Laura
AU - Paolillo, Carmela
AU - Tiberi, Giordana
AU - Scambia, Giovanni
AU - Capoluongo, Ettore
AU - Capoluongo, Ettore Domenico
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - BRCA1/2
KW - Next‐generation sequencing
KW - Novel variants
KW - BRCA1/2
KW - Next‐generation sequencing
KW - Novel variants
UR - http://hdl.handle.net/10807/168235
U2 - 10.3390/cancers12051286
DO - 10.3390/cancers12051286
M3 - Article
SN - 2072-6694
VL - 12
SP - 1
EP - 19
JO - Cancers
JF - Cancers
ER -