TY - JOUR
T1 - Genetic landscape of pancreatic adenocarcinoma patients
T2 - a pilot study from Pakistan
AU - Ali, Saleema Mehboob
AU - Adnan, Yumna
AU - Ahmad, Zubair
AU - Farooqui, Hasnain Ahmed
AU - Chawla, Tabish
AU - Ali, S. M.Adnan
N1 - Funding Information:
The study was funded by University Research Council, Aga Khan University Hospital (183027SUR).
Publisher Copyright:
© 2021, The Author(s), under exclusive licence to Springer Nature B.V.
PY - 2022/2
Y1 - 2022/2
N2 - 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.
AB - 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.
KW - Genes
KW - Molecular targeted therapies
KW - Pakistan
KW - Pancreatic adenocarcinoma
UR - http://www.scopus.com/inward/record.url?scp=85119884109&partnerID=8YFLogxK
U2 - 10.1007/s11033-021-06964-z
DO - 10.1007/s11033-021-06964-z
M3 - Article
C2 - 34812998
AN - SCOPUS:85119884109
SN - 0301-4851
VL - 49
SP - 1341
EP - 1350
JO - Molecular Biology Reports
JF - Molecular Biology Reports
IS - 2
ER -