Breast Cancer–Associated Abraxas Mutation Disrupts Nuclear Localization and DNA Damage Response Functions

Author:

Solyom Szilvia1,Aressy Bernadette2,Pylkäs Katri1,Patterson-Fortin Jeffrey23,Hartikainen Jaana M.45,Kallioniemi Anne6,Kauppila Saila7,Nikkilä Jenni1,Kosma Veli-Matti45,Mannermaa Arto45,Greenberg Roger A.28,Winqvist Robert1

Affiliation:

1. Laboratory of Cancer Genetics, Department of Clinical Genetics, Institute of Clinical Medicine and Biocenter Oulu, University of Oulu, Oulu University Hospital, Aapistie 5A, FI-90220 Oulu, Finland.

2. Department of Cancer Biology, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, 421 Curie Boulevard, Philadelphia, PA 19104–6160, USA.

3. University of Pennsylvania School of Veterinary Medicine, 3800 Spruce Street, Philadelphia, PA 19104–6160, USA.

4. School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, FI-70211 Kuopio, Finland.

5. Department of Clinical Pathology, Kuopio University Hospital, Biocenter Kuopio, Cancer Center of Eastern Finland, FI-70211 Kuopio, Finland.

6. Institute of Biomedical Technology, University of Tampere and Centre for Laboratory Medicine, Tampere University Hospital, FI-33014 Tampere, Finland.

7. Department of Pathology, University of Oulu, Oulu University Hospital, P.O. Box 5000, FI-90014 University of Oulu, Oulu, Finland.

8. Department of Pathology, Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104–6160, USA.

Abstract

A germline mutation in the Abraxas gene impairs BRCA1 DNA damage response function and is associated with familial breast cancer.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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