Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer |
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| Authors: | Hellebrand Heide Sutter Christian Honisch Ellen Gross Eva Wappenschmidt Barbara Schem Christian Deissler Helmut Ditsch Nina Gress Verena Kiechle Marion Bartram Claus R Schmutzler Rita K Niederacher Dieter Arnold Norbert Meindl Alfons |
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| Affiliation: | 1. Clinic of Gynaecology and Obstetrics, Division of Tumor Genetics, Technische Universit?t München, Munich, Germany;2. Institute of Human Genetics, University of Heidelberg, Germany;3. Department of Obstetrics and Gynaecology, Heinrich Heine Universit?t, Düsseldorf, Germany;4. Department of Obstetrics and Gynaecology, Division of Molecular Gynaeco‐Oncology, University of Cologne, Germany;5. UKSH Campus Kiel, Department of Obstetrics and Gynaecology, University of Kiel, Germany;6. Department of Obstetrics and Gynaecology, University of Ulm, Germany;7. Department of Obstetrics and Gynaecology, Ludwig‐Maximilians‐Universit?t München, Munich, Germany |
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| Abstract: | 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 analyzing 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 identified 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, favorable treatment options in familial breast cancer. |
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| Keywords: | Breast cancer DNA repair PALB2 Population Genetics |
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