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Five Italian Families with Two Mutations in BRCA Genes

1
Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, Via L. De Crecchio, 80138 Naples, Italy
2
Unity of Clinical and Molecular Pathology, University of Campania “Luigi Vanvitelli”, 80138 Naples, Italy
3
Oncology Unit, Hospital “Andrea Tortora,” ASL Salerno, 84016 Pagani, Italy
*
Author to whom correspondence should be addressed.
Genes 2020, 11(12), 1451; https://doi.org/10.3390/genes11121451
Received: 12 November 2020 / Revised: 27 November 2020 / Accepted: 1 December 2020 / Published: 3 December 2020
(This article belongs to the Section Human Genomics and Genetic Diseases)
Double heterozygosity (DH) in BRCA1 and BRCA2 genes and double mutation (DM) in BRCA1 or BRCA2 are extremely rare events in the general population, and few cases have been reported worldwide so far. Here, we describe five probands, all women, with breast and/or ovarian cancer and their families. Particularly, we identified two probands with DH in the BRCA1/2 genes with a frequency of 0.3% and three probands with DM in the BRCA2 gene with a frequency of 0.5%. The DH BRCA1 c.547+2T>A (IVS8+2T>A)/BRCA2 c.2830A>T (p.Lys944Ter) and BRCA1 c.3752_3755GTCT (p.Ser1253fs)/BRCA2 c.425+2T>C (IVS4+2T>C) have not been described together so far. The DM in BRCA2, c.631G>A (p.Val211Ile) and c.7008-2A>T (IVS13-2A>T), found in three unrelated probands, was previously reported in further unrelated patients. Due to its peculiarity, it is likely that both pathogenic variants descend from a common ancestor and, therefore, are founder mutations. Interestingly, analyzing the tumor types occurring in DH and DM families, we observed ovarian cancer only in DH families, probably due to the presence in DH patients of BRCA1 pathogenic variants, which predispose one more to ovarian cancer onset. Furthermore, male breast cancer and pancreatic cancer ensued in families with DM but not with DH. These data confirm that BRCA2 pathogenic variants have greater penetrance to develop breast cancer in men and are associated with an increased risk of pancreatic cancer. View Full-Text
Keywords: double heterozygosity (DH); double mutations (DM); BRCA1; BRCA2; hereditary breast and ovarian cancer double heterozygosity (DH); double mutations (DM); BRCA1; BRCA2; hereditary breast and ovarian cancer
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MDPI and ACS Style

Vietri, M.T.; Caliendo, G.; D’Elia, G.; Resse, M.; Casamassimi, A.; Minucci, P.B.; Dello Ioio, C.; Cioffi, M.; Molinari, A.M. Five Italian Families with Two Mutations in BRCA Genes. Genes 2020, 11, 1451. https://doi.org/10.3390/genes11121451

AMA Style

Vietri MT, Caliendo G, D’Elia G, Resse M, Casamassimi A, Minucci PB, Dello Ioio C, Cioffi M, Molinari AM. Five Italian Families with Two Mutations in BRCA Genes. Genes. 2020; 11(12):1451. https://doi.org/10.3390/genes11121451

Chicago/Turabian Style

Vietri, Maria T.; Caliendo, Gemma; D’Elia, Giovanna; Resse, Marianna; Casamassimi, Amelia; Minucci, Pellegrino B.; Dello Ioio, Concetta; Cioffi, Michele; Molinari, Anna M. 2020. "Five Italian Families with Two Mutations in BRCA Genes" Genes 11, no. 12: 1451. https://doi.org/10.3390/genes11121451

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