Almudena Callejo Goena1*, Sergio Carrera Revilla1,2, Aintzane Sancho Gutiérrez1, Cristina Martínez Bouzas3, Silvia Ibáñez Alonso4, Eider Azkona Uribelarrea1, Ane Lopetegi Aizpurua1 and Guillermo López Vivanco1
1Department of Medical Oncology, Cruces University Hospital, Spain
2Department of Medical Oncology, Hereditary Cancer Genetic Counseling Unit, Cruces University Hospital, Spain
3Molecular Genetics Laboratory of Service of Biochemistry, Cruces University Hospital, Spain
4Department of Radiology, Cruces University Hospital, Spain
Pancreatic Cancer (PC) is an aggressive disease with a poor outcome, not only because of the advanced stage at the time of diagnosis in most cases but also because of the difficulty in achieving a complete resection in many cases, the low chemo sensitivity of this tumor and the lack of mutational drivers for a targeted therapy. Even if the sporadic PC is the most prevalent one, mostly due to different external factors such as cigarette smoking, alcohol abuse or diabetes, the hereditary PC, with rather well-defined germline pathogenic variants, exists. We must take this into account when considering the underlying etiology of the tumor and the therapeutic options in these patients. We describe a case report of a 56-year-old man simultaneously diagnosed with a Colorectal Cancer (CRC) and an advanced pancreatic adenocarcinoma, whose familial history made us suspect of a hereditary causative component, and in whom we found a pathogenic variant in the BRCA2 gene. The response to the chemotherapeutic treatment observed in this patient was also congruent with this genetic finding, and it could lead us to a more personalized treatment with platinum containing regimens or Poly-ADP Ribose Polymerases (PARP) inhibitors
Pancreatic adenocarcinoma; Colorectal cancer; Hereditary cancer; Genetic testing; BRCA2
Goena AC, Revilla SC, Gutiérrez AS, Bouzas CM, Alonso SI, Uribelarrea EA. Searching for a Germline Etiology in Cancer: A Case Report of a Man with Synchronic Pancreatic and Colo-Rectal Cancer. Oncol Case Report J. 2018; 1(1): 1006.