High Rate of Actionable Variants Identifed by Multigene Testing for Pancreas Cancer Patients in a High Risk Clinic

2018 ◽  
Vol 113 (Supplement) ◽  
pp. S14-S15
Author(s):  
Gina Wideroff ◽  
Daniel A. Sussman ◽  
Peter J. Hosein ◽  
Rachel Silva-Smith ◽  
Talia Donenberg
2017 ◽  
Vol 5 (10) ◽  
pp. 184-196 ◽  
Author(s):  
Salha Mohammed Bujassoum ◽  
HekmetAbubaker Bugrein ◽  
Reem Jawad Al-Sulaiman ◽  
Hafedh Ghazouani

Introduction: Approximately 5%-10% of breast cancer is hereditary and BRCA1 and BRCA2 genes are responsible for most of the cases. In the State of Qatar, the cancer genetics program was established at National Center of Cancer Care and Research on 2013 which is considered the first of its kind in the region dedicated exclusively to providing genetic counseling, risk assessment and management of high risk patients and their families. In this study, we aim to describe our experience with the hereditary cancer and high risk clinic from the period of March 2013 until December 2016.Methods: In this retrospective study, a total of 697 patients were evaluated at the high risk clinic between March 2013 to December 2016. High risk patients were either placed under surveillance or offered genetic testing for the BRCA genes. Results: A total of 697 patients were evaluated at the high risk clinic in which 347 patients were considered eligible for high risk screening. 167 patients pursued genetic testing and 64 patients (38%) had BRCA mutations with BRCA1 being the most common, while 72 patients (43%) were BRCA negative. A total of 31 patients (19%) had variants of unknown significance in the BRCA genes. Most of the BRCA positive patients 63% were affected with either breast and/or ovarian cancers and were within younger age group, while 38% were unaffected. 55% of those BRCA positive affected patients had triple negative breast cancer. The prevalence of BRCA mutations among Qatari breast cancer patients reaches up to 10% while it reaches approximately 3.5% among non-Qatari breast cancer patients. Conclusion: Our program is an example of a well-established and multidisciplinary service targeted toward prevention and personalized medicine in high risk patients that goes in line with Qatar’s 2022 vision of achieving excellence in cancer care. From our unique experience, we show that BRCA mutations are prevalent among Qatari breast cancer patients reaching approximately 10% which can partially explain the young onset diagnosis of breast cancer in Qatar. With the higher awareness about our service and the recent establishment of BRCA testing at HMC, it is believed that the prevalence of BRCA is going to increase. In addition, with the introduction of multigene panel at our clinic, we believe that it will provide us with new perspective on all hereditary cancers. Our data registry on hereditary cancer syndromes will open windows for future research on cancer prevention and targeted therapies.


2007 ◽  
Vol 177 (4S) ◽  
pp. 130-130
Author(s):  
Markus Graefen ◽  
Jochen Walz ◽  
Andrea Gallina ◽  
Felix K.-H. Chun ◽  
Alwyn M. Reuther ◽  
...  

2005 ◽  
Vol 173 (4S) ◽  
pp. 222-222 ◽  
Author(s):  
Adam S. Kibel ◽  
Joel Picus ◽  
Michael S. Cookson ◽  
Bruce Roth ◽  
David F. Jarrard ◽  
...  

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