PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.

doi:10.1038/gim.2014.13

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Article

PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2014

Catucci Irene, Peterlongo Paolo, Ciceri Sara, Colombo Mara, Pasquini Graziella, Barile Monica, Bonanni Bernardo, Verderio Paolo, Pizzamiglio Sara, Foglia Claudia, Falanga Anna, Marchetti Marina, Galastri Laura, Bianchi Tiziana, Corna Chiara, Ravagnani Fernando, Bernard Loris, Fortuzzi Stefano, Sardella Domenico, Scuvera Giulietta, Peissel Bernard, Manoukian Siranoush, Tondini Carlo, Radice Paolo

Abstract excerpt

PURPOSE: Monoallelic 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. METHODS: In this study, we sequenced the...

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PMID: 24556926
DOI: 10.1038/gim.2014.13

Genes

PALB2
BRCA2

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PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.PMID 24556926Read ↗

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