Demet AKDENİZ ÖDEMİŞ, Özge ŞÜKRÜOĞLU ERDOĞAN, Esra KAYTAN, Mukaddes AVŞAR, Didem TAŞTEKİN, Gözde KURU TÜRKCAN, Seda KILIÇ ERCİYAS, Senem KARABULUT, Şeref Buğra TUNÇER, Hülya YAZICI

The Association of Pancreatic Cancer and PALB2 Gene Mutations in the Turkish Population

OBJECTIVEThe 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.METHODSThirty patients diagnosed with pancreatic cancer and 30 healthy controls who had no cancer history intheir family and matched for age, gender, and ethnicity with the patients were analyzed in the study. Theexome regions of the PALB2 gene in the genomic DNA obtained from the peripheral blood samples ofthe patients and controls were investigated by the Sanger sequencing method.RESULTSEvaluation of the obtained data showed that the alterations of c.29G>T, c.2737C>A, c.2773G>C, andc.2840T>G were only identified in the group of patient; and the alteration of c.1676A>G was detected inthe homozygous formation in the case with a familial pancreatic cancer syndrome in the group of patient.CONCLUSIONThese alterations were suggested to be possibly important in the pathogenesis, and in the inheritance ofpancreatic cancer. Further study is needed with a large cohort to emphasize importance of alteration.

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