Abstract:
:Several population-based and family-based studies have demonstrated that germline mutations of the PALB2 gene (Partner and Localizer of BRCA2) are associated with an increased risk of breast cancer. Distinct mutation frequencies and spectrums have been described depending on the population studied. Here we describe the first complete PALB2 coding sequence screening in the French population. We screened the complete coding sequence and intron-exon boundaries of PALB2, using the EMMA technique, to assess the contribution of pathogenic mutations in a set of 835 familial breast cancer cases and 662 unrelated controls from the French national study GENESIS and the Paul Strauss Cancer Centre, all previously tested negative for BRCA1 and BRCA2 pathogenic mutations. Our analysis revealed the presence of four novel deleterious mutations: c.1186insT, c.1857delT and c.2850delC in three cases, c.3418dupT in one control. In addition, we identified two in-frame insertion/deletion, 19 missense substitutions (two of them predicted as pathogenic), 9 synonymous variants, 28 variants located in introns and 2 in UTRs, as well as frequent variants. Truncating PALB2 mutations were found in 0.36% of familial breast cancer cases, a frequency lower than the one detected in comparable studies in other populations (0.73-3.40%). This suggests a small but significant contribution of PALB2 mutations to the breast cancer susceptibility in the French population.
journal_name
Breast Cancer Res Treatjournal_title
Breast cancer research and treatmentauthors
Damiola F,Schultz I,Barjhoux L,Sornin V,Dondon MG,Eon-Marchais S,Marcou M,GENESIS Study Investigators.,Caron O,Gauthier-Villars M,de Pauw A,Luporsi E,Berthet P,Delnatte C,Bonadona V,Maugard C,Pujol P,Lasset C,Longy Mdoi
10.1007/s10549-015-3625-7subject
Has Abstractpub_date
2015-12-01 00:00:00pages
463-71issue
3eissn
0167-6806issn
1573-7217pii
10.1007/s10549-015-3625-7journal_volume
154pub_type
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journal_title:Breast cancer research and treatment
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