BACKGROUND: Pancreatic adenocarcinoma is one of the most aggressive malignancies with extremely low survival rate. Studies have shown that the exploration of key genes can provide a basis for targeted treatment of these patients. The genomic architecture of the Pakistani pancreatic adenocarcinoma patients remains unexplored. Keeping the scenario in place, the current study aims to analyse 88 cancer related genes in Pakistani pancreatic adenocarcinoma patients in order to elucidate candidate gene(s) for targeted molecular therapy. METHODS AND RESULTS: A total 18 patients were included in the study initially and FFPE tumor samples were obtained. After confirmation of diagnosis and appropriate tumor content, DNA was extracted. Based on the quality and quantity of the extracted DNA, six pancreatic adenocarcinoma tumor samples were selected. Following to this, all the samples were subjected to targeted sequencing (Axen Cancer Panel 1). Variant detection was done and clinical significance of identified variants was assessed using ClinVar database. Targeted sequencing of tumor samples revealed a total of 29 alterations in the coding region of various genes. Among these five pathogenic variants were found in KRAS, BRCA1, TP53 and APC genes. CONCLUSION: This is the first study that explores genes involved in pancreatic adenocarcinoma from the Pakistani population. Results obtained from the pilot study can guide us about the key genetic players in the Pakistani pancreatic adenocarcinoma population. This can lead to our better understanding of the molecular targeted therapies for these patients and designing future researches on larger sample size.
BACKGROUND: Pancreatic adenocarcinoma is one of the most aggressive malignancies with extremely low survival rate. Studies have shown that the exploration of key genes can provide a basis for targeted treatment of these patients. The genomic architecture of the Pakistani pancreatic adenocarcinoma patients remains unexplored. Keeping the scenario in place, the current study aims to analyse 88 cancer related genes in Pakistani pancreatic adenocarcinoma patients in order to elucidate candidate gene(s) for targeted molecular therapy. METHODS AND RESULTS: A total 18 patients were included in the study initially and FFPE tumor samples were obtained. After confirmation of diagnosis and appropriate tumor content, DNA was extracted. Based on the quality and quantity of the extracted DNA, six pancreatic adenocarcinoma tumor samples were selected. Following to this, all the samples were subjected to targeted sequencing (Axen Cancer Panel 1). Variant detection was done and clinical significance of identified variants was assessed using ClinVar database. Targeted sequencing of tumor samples revealed a total of 29 alterations in the coding region of various genes. Among these five pathogenic variants were found in KRAS, BRCA1, TP53 and APC genes. CONCLUSION: This is the first study that explores genes involved in pancreatic adenocarcinoma from the Pakistani population. Results obtained from the pilot study can guide us about the key genetic players in the Pakistani pancreatic adenocarcinoma population. This can lead to our better understanding of the molecular targeted therapies for these patients and designing future researches on larger sample size.
Authors: Thierry Conroy; Pascal Hammel; Mohamed Hebbar; Meher Ben Abdelghani; Alice C Wei; Jean-Luc Raoul; Laurence Choné; Eric Francois; Pascal Artru; James J Biagi; Thierry Lecomte; Eric Assenat; Roger Faroux; Marc Ychou; Julien Volet; Alain Sauvanet; Gilles Breysacher; Frédéric Di Fiore; Christine Cripps; Petr Kavan; Patrick Texereau; Karine Bouhier-Leporrier; Faiza Khemissa-Akouz; Jean-Louis Legoux; Béata Juzyna; Sophie Gourgou; Christopher J O'Callaghan; Claire Jouffroy-Zeller; Patrick Rat; David Malka; Florence Castan; Jean-Baptiste Bachet Journal: N Engl J Med Date: 2018-12-20 Impact factor: 91.245
Authors: Jordan D Berlin; Yang Feng; Paul Catalano; James L Abbruzzese; Philip A Philip; Robert R McWilliams; Andrew M Lowy; Al B Benson; A William Blackstock Journal: Oncology Date: 2017-10-18 Impact factor: 2.935
Authors: Ashton A Connor; Robert E Denroche; Gun Ho Jang; Mathieu Lemire; Amy Zhang; Michelle Chan-Seng-Yue; Gavin Wilson; Robert C Grant; Daniele Merico; Ilinca Lungu; John M S Bartlett; Dianne Chadwick; Sheng-Ben Liang; Jenna Eagles; Faridah Mbabaali; Jessica K Miller; Paul Krzyzanowski; Heather Armstrong; Xuemei Luo; Lars G T Jorgensen; Joan M Romero; Prashant Bavi; Sandra E Fischer; Stefano Serra; Sara Hafezi-Bakhtiari; Derin Caglar; Michael H A Roehrl; Sean Cleary; Michael A Hollingsworth; Gloria M Petersen; Sarah Thayer; Calvin H L Law; Sulaiman Nanji; Talia Golan; Alyssa L Smith; Ayelet Borgida; Anna Dodd; David Hedley; Bradly G Wouters; Grainne M O'Kane; Julie M Wilson; George Zogopoulos; Faiyaz Notta; Jennifer J Knox; Steven Gallinger Journal: Cancer Cell Date: 2019-01-24 Impact factor: 31.743
Authors: Philippe Rougier; Hanno Riess; Robert Manges; Petr Karasek; Yves Humblet; Carlo Barone; Armando Santoro; Sylvie Assadourian; Laurence Hatteville; Philip A Philip Journal: Eur J Cancer Date: 2013-04-30 Impact factor: 9.162