PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo
2014; Elsevier BV; Volume: 16; Issue: 9 Linguagem: Inglês
10.1038/gim.2014.13
ISSN1530-0366
AutoresIrene Catucci, Paolo Peterlongo, Sara Ciceri, Mara Colombo, G. Pasquini, Monica Barile, Bernardo Bonanni, Paolo Verderio, Sara Pizzamiglio, Claudia Foglia, Anna Falanga, Marina Marchetti, Laura Galastri, T Bianchi, Chiara Corna, Fernando Ravagnani, Loris Bernard, Stefano Fortuzzi, Domenico Sardella, Giulietta Scuvera, Bernard Peissel, Siranoush Manoukian, Carlo Tondini, Paolo Radice,
Tópico(s)DNA Repair Mechanisms
ResumoPurposeMonoallelic germ-line deleterious mutations of PALB2 (partner and localizer of BRCA2) are associated with breast cancer risk and have been found in several populations, with carrier frequencies of ~1−2%. Initially, these mutations were considered to have moderate penetrance, but accumulating evidence now indicates that they are associated with much higher risk.MethodsIn this study, we sequenced the PALB2 coding regions unlinked to BRCA (breast cancer) genes in 575 probands from Italian breast cancer families recruited in Milan.ResultsWe found 12 carriers (2.1%) of deleterious mutations, and none of the mutations was found in 784 controls collected in Milan. One of these mutations, the c.1027C>T (p.Gln343X), was found to be recurrent in the province of Bergamo in northern Italy, being detected in 6/113 (5.3%) familial breast cancer cases and 2/477 (0.4%) controls recruited in this area (Fisher's exact test: P < 0.01).ConclusionsOur data provide confirmatory findings that, in the Italian population also, deleterious mutations of PALB2 are relatively frequent predisposing factors for breast cancer and may be associated with high risk of the disease.
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