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Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor

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Abstract

We report on three brothers affected by pancreatic tumors, all due to different causes, including mutations associated with two different cancer predisposition syndromes in the same individual. In the index patient a germline mutation both in the APC and BRCA2 gene was identified while one affected brother showed the BRCA2 mutation only and another brother is supposed to have developed pancreatic cancer due to multiple non-genetic risk factors. We outline the impact of a double germline mutation in two tumor predisposition genes in one individual and proven heterogeneity of multiple cases of pancreatic tumors in one family. With the growing implementation of next generation sequence based panel testing for multiple genes involved in tumor predisposition syndromes, relevant variants in two (or more) genes will be found more frequently. This family illustrates the importance of family studies, especially when using gene panel tests.

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Author notes

    Authors and Affiliations

    1. Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 440, 69120, Heidelberg, Germany

      Caroline Goehringer, Christian Sutter & Ute Moog

    2. Department of Applied Tumor Biology, Institute of Pathology, Heidelberg University, Im Neuenheimer Feld 220/221, 69120, Heidelberg, Germany

      Matthias Kloor & Johannes Gebert

    3. Department of Surgery, Philipps-University Marburg, Baldingerstraße, 35043, Marburg, Germany

      Emily P. Slater

    4. Department of Psychosomatic and General Clinical Medicine, Heidelberg University, Im Neuenheimer Feld 410, 69120, Heidelberg, Germany

      Monika Keller

    5. Department of General Surgery, Heidelberg University, Im Neuenheimer Feld 110, 69120, Heidelberg, Germany

      Irmgard Treiber

    6. Department of General, Visceral, Transplantation, Vascular and Thoracic Surgery, Hospital of the University of Munich, Marchioninistraße 15, 81377, Munich, Germany

      Petra Ganschow

    7. Faculty of Medicine and Health Sciences, University of Oldenburg, Carl-von-Ossietzky-Str. 9-11, 26129, Oldenburg, Germany

      Martina Kadmon

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    1. Caroline Goehringer
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    Correspondence to Caroline Goehringer.

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    Caroline Goehringer and Christian Sutter have been contributed equally to this work.

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    Goehringer, C., Sutter, C., Kloor, M. et al. Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor. Familial Cancer 16, 303–309 (2017). https://doi.org/10.1007/s10689-016-9952-y

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