PALB2 mutations in German and Russian patients with bilateral breast cancer
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Natalia Bogdanova Anna P. Sokolenko Aglaya G. Iyevleva Svetlana N. Abysheva Magda Blaut Michael Bremer Hans Christiansen Margret Rave-Fr
- چاپ و سال / کشور: 2010
Description
Since germline mutations in the PALB2 (Partner and Localizer of BRCA2) gene have been identified as breast cancer (BC) susceptibility alleles, the geographical spread and risks associated with PALB2 mutations are subject of intense investigation. Patients with bilateral breast cancer constitute a valuable group for genetic studies. We have thus scanned the whole coding region of PALB2 in a total of 203 German or Russian bilateral breast cancer patients using an approach based on high-resolution melting analysis and direct sequencing of genomic DNA samples. Truncating PALB2 mutations were identified in 4/203 (2%) breast cancer patients with bilateral disease. The two nonsense mutations, p.E545X and p.Q921X, have not been previously described whereas the two other mutations, p.R414X and c.509_510delGA, are recurrent. Our results indicate that PALB2 germline mutations account for a small, but not negligible, proportion of bilateral breast carcinomas in German and Russian populations.
Breast Cancer Res Treat (2011) 126:545–550 DOI 10.1007/s10549-010-1290-4 Received: 16 November 2010 / Accepted: 2 December 2010 / Published online: 17 December 2010
