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Spectrum of Variants Detected in Cancer Susceptibility Genes Analyzed in Turkish Pancreatic Cancer Patients
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Original Article
VOLUME: 53 ISSUE: 1
P: 140-144
2020

Spectrum of Variants Detected in Cancer Susceptibility Genes Analyzed in Turkish Pancreatic Cancer Patients

Acta Haematol Oncol Turc 2020;53(1):140-144
DOI: 10.5505/aot.2020.82574
Taha Bahsi 1
Hanife Saat 2
1. SBÜ Dr. Abdurrahman Yurtaslan Ankara Oncology Training and Research Hosiptal, Medical Genetics, Ankara
2. SBÜ Ankara Dışkapı Yıldırım Beyazit Training and Research Hosiptal, Medical Genetics, Ankara
3.
No information available.
No information available
Received Date: 2020-03-27T13:05:24
Accepted Date: 2020-04-28T11:27:30
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Abstract

INTRODUCTION

Pancreatic cancer has the highest mortality among the all cancers. It is predicted that pancreatic cancer will be the most common cancer that causes death after lung cancer until 2030. BRCA1, BRCA2, CDKN2A, ATM, PALB2 and Lynch syndrome genes predispose to pancreatic cancer. It is important to know the pathogenic or VUS variants in these genes. In our study, we aimed to investigate variants in Turkish pancreatic cancer patients who are thought to have familial predisposition.

METHODS

The results of 16 patients who referred to for pancreatic cancer and had a family history of cancer history were analyzed retrospectively. DNA samples of the patients were sequenced by the next generation DNA sequence analysis method.

RESULTS

As a result of the study, no change was detected in 7 patients suggesting the cause of the disease. Five patients had unknown clinical significance (VUS) variant, three patients had pathogenic variant and one patient had likely pathogenic variant.

DISCUSSION AND CONCLUSION

In this study, we detected pathogenic variants in genes previously known to be associated with pancreatic cancer. We think that especially the variants in BRCA2, ATM and MEN1 gene have a strong relation with the pancreatic cancer. We think that in Turkish pancreatic cancer patients, such a study has not been done before and the new variants we have identified will contribute to the literature.