A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families

Clin Chem Lab Med. 2020 May 12;59(3):e95-e98. doi: 10.1515/cclm-2020-0389. Print 2021 Feb 23.

¹ Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II - CEINGE, Biotecnologie Avanzate, Naples, Italy.
² Oncology Unit, Ospedale "Vito Fazzi" Lecce, Italy.
³ Medical Affairs Italy, Galapagos Biopharma, Milan, Italy.
⁴ Molecular and Genomic Diagnostics Laboratory, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
⁵ Pediatric Oncology Unit, Ospedale Vito Fazzi, Lecce, Italy.
⁶ Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Genetica Medica, Rome, Italy.
⁷ Istituto di MEdicina Genomica Univarsità Cattolica del Sacro Cuore, Rome, Italy.

No abstract available

Keywords: BRCA1/2; HBOC; founder mutation; novel mutations.

Publication types