Analysis of italian BRCA1/2 pathogenic variants identifies a private spectrum in the population from the Bergamo Province in northern Italy

Gisella Figlioli, Arcangela De Nicolo, Irene Catucci, Siranoush Manoukian, Bernard Peissel, Jacopo Azzollini, Benedetta Beltrami, Bernardo Bonanni, Mariarosaria Calvello, Davide Bondavalli, Barbara Pasini, Francesca Vignolo Lutati, Paola Ogliara, Monica Zuradelli, Valeria Pensotti, Giovanna De Vecchi, Sara Volorio, Paolo Verderio, Sara Pizzamiglio, Giuseppe MatulloSerena Aneli, Giovanni Birolo, Federica Zanardi, Carlo Tondini, Alberto Zambelli, Luca Livraghi, Michela Franchi, Paolo Radice, Paolo Peterlongo

Research output: Contribution to journalArticlepeer-review


Germline pathogenic variants (PVs) in the BRCA1 or BRCA2 genes cause high breast cancer risk. Recurrent or founder PVs have been described worldwide including some in the Bergamo province in Northern Italy. The aim of this study was to compare the BRCA1/2 PV spectra of the Bergamo and of the general Italian populations. We retrospectively identified at five Italian centers 1019 BRCA1/2 PVs carrier individuals affected with breast cancer and representative of the heterogeneous national population. Each individual was assigned to the Bergamo or non-Bergamo cohort based on self-reported birthplace. Our data indicate that the Bergamo BRCA1/2 PV spectrum shows less heterogeneity with fewer different variants and an average higher frequency compared to that of the rest of Italy. Consistently, four PVs explained about 60% of all carriers. The majority of the Bergamo PVs originated locally with only two PVs clearly imported. The Bergamo BRCA1/2 PV spectrum appears to be private. Hence, the Bergamo population would be ideal to study the disease risk associated with local PVs in breast cancer and other disease-causing genes. Finally, our data suggest that the Bergamo population is a genetic isolate and further analyses are warranted to prove this notion.

Original languageEnglish
Article number532
Pages (from-to)1-11
Number of pages11
Issue number3
Publication statusPublished - Feb 1 2021


  • Bergamo province
  • BRCA1
  • BRCA2
  • Breast cancer
  • Italy
  • Pathogenic variants
  • Spectrum

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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