Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor |
| |
| Authors: | Caroline Goehringer Christian Sutter Matthias Kloor Johannes Gebert Emily P. Slater Monika Keller Irmgard Treiber Petra Ganschow Martina Kadmon Ute Moog |
| |
| Affiliation: | 1.Institute of Human Genetics,Heidelberg University,Heidelberg,Germany;2.Department of Applied Tumor Biology, Institute of Pathology,Heidelberg University,Heidelberg,Germany;3.Department of Surgery,Philipps-University Marburg,Marburg,Germany;4.Department of Psychosomatic and General Clinical Medicine,Heidelberg University,Heidelberg,Germany;5.Department of General Surgery,Heidelberg University,Heidelberg,Germany;6.Department of General, Visceral, Transplantation, Vascular and Thoracic Surgery,Hospital of the University of Munich,Munich,Germany;7.Faculty of Medicine and Health Sciences,University of Oldenburg,Oldenburg,Germany |
| |
| 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. |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
