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

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

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

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 PALB2 coding regions unlinked to BRCA (breast cancer) genes in 575 probands from Italian breast cancer families recruited in Milan.Results:We 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).Conclusions:Our 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.Genet Med 16 9, 688-694.

Original languageEnglish
Pages (from-to)688-694
Number of pages7
JournalGenetics in Medicine
Volume16
Issue number9
DOIs
Publication statusPublished - Sep 11 2014

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Mutation
Breast Neoplasms
Viverridae
Penetrance
Germ-Line Mutation
Neoplasm Genes
Causality
Italy
Population
Familial Breast Cancer

Keywords

  • association study
  • breast cancer risk
  • familial breast cancer cases
  • PALB2
  • recurrent mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Medicine(all)

Cite this

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

In: Genetics in Medicine, Vol. 16, No. 9, 11.09.2014, p. 688-694.

Research output: Contribution to journalArticle

Catucci, I, Peterlongo, P, Ciceri, S, Colombo, M, Pasquini, G, Barile, M, Bonanni, B, Verderio, P, Pizzamiglio, S, Foglia, C, Falanga, A, Marchetti, M, Galastri, L, Bianchi, T, Corna, C, Ravagnani, F, Bernard, L, Fortuzzi, S, Sardella, D, Scuvera, G, Peissel, B, Manoukian, S, Tondini, C & Radice, P 2014, 'PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo', Genetics in Medicine, vol. 16, no. 9, pp. 688-694. https://doi.org/10.1038/gim.2014.13
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. / PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo. In: Genetics in Medicine. 2014 ; Vol. 16, No. 9. pp. 688-694.
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T1 - PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo

AU - Catucci, Irene

AU - Peterlongo, Paolo

AU - Ciceri, Sara

AU - Colombo, Mara

AU - Pasquini, Graziella

AU - Barile, Monica

AU - Bonanni, Bernardo

AU - Verderio, Paolo

AU - Pizzamiglio, Sara

AU - Foglia, Claudia

AU - Falanga, Anna

AU - Marchetti, Marina

AU - Galastri, Laura

AU - Bianchi, Tiziana

AU - Corna, Chiara

AU - Ravagnani, Fernando

AU - Bernard, Loris

AU - Fortuzzi, Stefano

AU - Sardella, Domenico

AU - Scuvera, Giulietta

AU - Peissel, Bernard

AU - Manoukian, Siranoush

AU - Tondini, Carlo

AU - Radice, Paolo

PY - 2014/9/11

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N2 - 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 PALB2 coding regions unlinked to BRCA (breast cancer) genes in 575 probands from Italian breast cancer families recruited in Milan.Results:We 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).Conclusions:Our 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.Genet Med 16 9, 688-694.

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