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Open AccessArticle

Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study

1
Medical Oncology Division, S. Maria Hospital, 05100 Terni, Italy
2
Medical Oncology Division, S. Maria della Misericordia Hospital, 06132 Perugia, Italy
3
Umbria Cancer Registry, University of Perugia, 06129 Perugia, Italy
4
Department of Experimental Medicine, Public Health Section, University of Perugia, 06129 Perugia, Italy
*
Author to whom correspondence should be addressed.
These authors have contributed equally to this work.
Genes 2020, 11(8), 925; https://doi.org/10.3390/genes11080925
Received: 17 July 2020 / Revised: 5 August 2020 / Accepted: 6 August 2020 / Published: 12 August 2020
(This article belongs to the Section Human Genomics and Genetic Diseases)
Hereditary breast and ovarian cancers are mainly linked to variants in BRCA1/2 genes. Recently, data has shown that identification of BRCA variants has an immediate impact not only in cancer prevention but also in targeted therapeutic approaches. This prospective observational study characterized the overall germline BRCA variant and variant of uncertain significance (VUS) frequency and spectrum in individuals affected by breast (BC) or ovarian cancer (OC) and in healthy individuals at risk by sequencing the entire BRCA genes. Of the 363 probands analyzed, 50 (13.8%) were BRCA1/2 mutated, 28 (7.7%) at BRCA1 and 23 (6.3%) at BRCA2 gene. The variant c.5266dupC p.(Gln1756Profs) was the most frequent alteration, representing 21.4% of the BRCA1 variants and 12.0% of all variants identified. The variant c.6313delA p.(Ile2105Tyrfs) of BRCA2 was the most frequent alteration observed in 6 patients. Interestingly, two new variants were identified in BRCA2. In addition, 25 different VUS were identified; two were reported for the first time in BRCA1 and two in BRCA2. The number of triple-negative BCs was significantly higher in patients with the pathogenic BRCA1/2-variant (36.4%) than in BRCA1/2 VUS (16.0%) and BRCA1/2 wild-type patients (10.7%) (p < 0.001). Our study reveals that the overall frequency of BRCA germline variants in the selected high-risk Italian population is about 13.8%. We believe that our results could have significant implications for preventive strategies for unaffected BRCA-carriers and effective targeted treatments such as PARP inhibitors for patients with BC or OC. View Full-Text
Keywords: BRCA1/2 variant carrier; breast cancer; VUS; genetic testing; risk evaluation BRCA1/2 variant carrier; breast cancer; VUS; genetic testing; risk evaluation
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MDPI and ACS Style

Foglietta, J.; Ludovini, V.; Bianconi, F.; Pistola, L.; Reda, M.S.; Al-Refaie, A.; Tofanetti, F.R.; Mosconi, A.; Minenza, E.; Anastasi, P.; Molica, C.; Stracci, F.; Roila, F. Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study. Genes 2020, 11, 925. https://doi.org/10.3390/genes11080925

AMA Style

Foglietta J, Ludovini V, Bianconi F, Pistola L, Reda MS, Al-Refaie A, Tofanetti FR, Mosconi A, Minenza E, Anastasi P, Molica C, Stracci F, Roila F. Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study. Genes. 2020; 11(8):925. https://doi.org/10.3390/genes11080925

Chicago/Turabian Style

Foglietta, Jennifer; Ludovini, Vienna; Bianconi, Fortunato; Pistola, Lorenza; Reda, Maria S.; Al-Refaie, Antonella; Tofanetti, Francesca R.; Mosconi, Annamaria; Minenza, Elisa; Anastasi, Paola; Molica, Carmen; Stracci, Fabrizio; Roila, Fausto. 2020. "Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study" Genes 11, no. 8: 925. https://doi.org/10.3390/genes11080925

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