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Five Italian Families with Two Mutations in BRCA Genes.
Vietri, Maria Teresa; Caliendo, Gemma; D'Elia, Giovanna; Resse, Marianna; Casamassimi, Amelia; Minucci, Pellegrino Biagio; Dello Ioio, Concetta; Cioffi, Michele; Molinari, Anna Maria.
Afiliación
  • Vietri MT; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Via L. De Crecchio, 80138 Naples, Italy.
  • Caliendo G; Unity of Clinical and Molecular Pathology, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
  • D'Elia G; Unity of Clinical and Molecular Pathology, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
  • Resse M; Unity of Clinical and Molecular Pathology, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
  • Casamassimi A; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Via L. De Crecchio, 80138 Naples, Italy.
  • Minucci PB; Unity of Clinical and Molecular Pathology, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
  • Dello Ioio C; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Via L. De Crecchio, 80138 Naples, Italy.
  • Cioffi M; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Via L. De Crecchio, 80138 Naples, Italy.
  • Molinari AM; Unity of Clinical and Molecular Pathology, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Genes (Basel) ; 11(12)2020 12 03.
Article en En | MEDLINE | ID: mdl-33287145
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Ováricas / Neoplasias Pancreáticas / Neoplasias de la Mama / Proteína BRCA1 / Proteína BRCA2 / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Genes (Basel) Año: 2020 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Ováricas / Neoplasias Pancreáticas / Neoplasias de la Mama / Proteína BRCA1 / Proteína BRCA2 / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Genes (Basel) Año: 2020 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza