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Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer

✍ Scribed by Heide Hellebrand; Christian Sutter; Ellen Honisch; Eva Gross; Barbara Wappenschmidt; Christian Schem; Helmut Deißler; Nina Ditsch; Verena Gress; Marion Kiechle; Claus R. Bartram; Rita K. Schmutzler; Dieter Niederacher; Norbert Arnold; Alfons Meindl

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
387 KB
Volume
32
Category
Article
ISSN
1059-7794

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✦ Synopsis

The Partner and Localizer of BRCA2 (PALB2) protein has been linked to Fanconi anemia and breast cancer predisposition. Here we present data of a comprehensive mutation screening of the PALB2 gene in 818 familial cases of breast cancer from Germany. By analysing the entire coding region of PALB2, we found seven truncating mutations (six of them novel) in families tested negative for BRCA1/2-mutations. In addition, two novel potentially disease causing missense mutations were found. Remarkably, only one mutation reported previously in other populations, was also identified in the German population. No PALB2 mutation carriers were identidfied in 450 unaffected controls. Thus, our observations indicate a low prevalence of deleterious PALB2 mutations and a specific mutation profile within the German population. As PALB2-deficient tumors were shown to be sensitive to Poly(ADP-ribose) Polymerase (PARP) inhibitors, our study has implications for newly developed, favourable treatment options in familial breast cancer. ©2011 Wiley-Liss, Inc.

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