2Department of Clinical Oncology, Institute of Oncology, Istanbul University, İstanbul-Turkey
3Department of Radiation Oncology, Institute of Oncology, Istanbul University, İstanbul-Turkey DOI : 10.5505/tjo.2019.1948 OBJECTIVE
The aim of the present study was to identify the prevalence of PALB2 gene mutations in patients diagnosed with pancreatic cancer in Turkish population, and to investigate the role of PALB2 in the pathogenesis of the disease.
METHODS
Thirty patients diagnosed with pancreatic cancer and 30 healthy controls who had no cancer history in
their family and matched for age, gender, and ethnicity with the patients were analyzed in the study. The
exome regions of the PALB2 gene in the genomic DNA obtained from the peripheral blood samples of
the patients and controls were investigated by the Sanger sequencing method.
RESULTS
Evaluation of the obtained data showed that the alterations of c.29G>T, c.2737C>A, c.2773G>C, and
c.2840T>G were only identified in the group of patient; and the alteration of c.1676A>G was detected in
the homozygous formation in the case with a familial pancreatic cancer syndrome in the group of patient.
CONCLUSION
These alterations were suggested to be possibly important in the pathogenesis, and in the inheritance of
pancreatic cancer. Further study is needed with a large cohort to emphasize importance of alteration.