GÖZDE KURU TÜRKCAN, DEMET AKDENİZ ÖDEMİŞ, MUKADDES AVŞAR, ŞEREF BUĞRA TUNÇER, SEDA KILIÇ ERCİYAS, ÖZGE ŞÜKRÜOĞLU ERDOĞAN, DİDEM TAŞTEKİN, SENEM KARABULUT, ESRA KAYTAN, HÜLYA YAZICI
Turkish Journal of Oncology - 2019;34(4):283-290
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.
