Oncol Case Rep J | Volume 1, Issue 1 | Case Report | Open Access

Searching for a Germline Etiology in Cancer: A Case Report of a Man with Synchronic Pancreatic and ColoRectal Cancer

Almudena Callejo Goena^1*, Sergio Carrera Revilla^1,2, 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

^*Correspondance to: Almudena Callejo Goena 

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Abstract

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

Keywords:

Pancreatic adenocarcinoma; Colorectal cancer; Hereditary cancer; Genetic testing; BRCA2

Citation:

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.