BRCA Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) BRCA2 Variant
This study indicates the <i>BRCA</i>2 c.7007G>C variant found in the Jewish community of Rome to be a founder variant. Finally, we underline a pressing need to address the increased risk of carrying <i>BRCA</i> mutations among individuals with Jewish heritage, and to enhance genetic counseling and screening efforts in ethnic minorities that are not otherwise routinely reached.
Authors
- Cristina Peconi (ORCID: https://orcid.org/0000-0002-6032-6497)
- Laura De Marchis (ORCID: https://orcid.org/0000-0003-2195-7955)
- Annarita Vestri (ORCID: https://orcid.org/0000-0002-6139-7174)
- Giulia Mammone (ORCID: https://orcid.org/0000-0001-8589-2148)
- Stefania Zampatti (ORCID: https://orcid.org/0000-0003-2502-7157)
- Emiliano Giardina (ORCID: https://orcid.org/0000-0002-2741-5009)
- Paolo Aretini (ORCID: https://orcid.org/0000-0003-1075-4319)
- Raffaele Madaio
- Ettore Capoluongo (ORCID: https://orcid.org/0000-0003-4402-8403)
- Angelo Minucci (ORCID: https://orcid.org/0000-0002-0833-4334)
- Alain Gelibter (ORCID: https://orcid.org/0000-0002-7832-5281)
- Daniele Guadagnolo (ORCID: https://orcid.org/0000-0003-4588-1131)
- Antonio Pizzuti (ORCID: https://orcid.org/0000-0003-3245-1925)
- Maria De Bonis (ORCID: https://orcid.org/0000-0001-5479-2144)
Institutions
- Azienda Ospedaliera San Giovanni Addolorata (IT)
- Casa Sollievo della Sofferenza (IT)
- Policlinico Umberto I (IT)
- Fondazione Pisa (IT)
- Agostino Gemelli University Polyclinic (IT)
- Azienda Ospedaliera S.Maria (IT)
- Fondazione Santa Lucia (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University of Naples Federico II (IT)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Cancers
- Published
- 2025-06-08
- DOI
- https://doi.org/10.3390/cancers17121906
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Sapienza Università di Roma