By using direct sequencing, we performed a screen for germline mutations of PALB2 coding region and intron–exon boundaries in 97 BRCA1/2 negative MBCs, previouslyidentified in a population-based series of 108MBCsNo truncating mutations were found. A novel missense variant, I1180T, was identified in a young man diagnosed with BC at 42 years of age and with negative FH. In silico analysis (PolyPhen, SIFT, Align-GVGD and Pmut) showed that I1180T is likely to be deleterious, since it occurs in the WD40-4 conserved domain that regulates PALB2 interaction with BRCA2. This variant was not found in 90 male population controls analysed. Three additional missense variants (Q559R, E672Q and G998E) and one synonymous (T1100T) variant, all previouslyreported, were identified in our series.

PALB2 mutations in male breast cancer: a population-based study in Central Italy / Silvestri V; Rizzolo P; Zanna I; Falchetti M; Masala G; Bianchi S; Papi L; Giannini G; Palli D; Ottini L.. - In: BREAST CANCER RESEARCH AND TREATMENT. - ISSN 0167-6806. - STAMPA. - 122:(2010), pp. 299-301. [10.1007/s10549-010-0797-z]

PALB2 mutations in male breast cancer: a population-based study in Central Italy.

BIANCHI, SIMONETTA;PAPI, LAURA;
2010

Abstract

By using direct sequencing, we performed a screen for germline mutations of PALB2 coding region and intron–exon boundaries in 97 BRCA1/2 negative MBCs, previouslyidentified in a population-based series of 108MBCsNo truncating mutations were found. A novel missense variant, I1180T, was identified in a young man diagnosed with BC at 42 years of age and with negative FH. In silico analysis (PolyPhen, SIFT, Align-GVGD and Pmut) showed that I1180T is likely to be deleterious, since it occurs in the WD40-4 conserved domain that regulates PALB2 interaction with BRCA2. This variant was not found in 90 male population controls analysed. Three additional missense variants (Q559R, E672Q and G998E) and one synonymous (T1100T) variant, all previouslyreported, were identified in our series.
2010
122
299
301
Silvestri V; Rizzolo P; Zanna I; Falchetti M; Masala G; Bianchi S; Papi L; Giannini G; Palli D; Ottini L.
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/573707
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