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The Investigation of Genotype-Phenotype Relationship in Multiple Primary Malignant Neoplasia Patients

Neslihan Duzkale1,*, Emine Demıral2

1 Department of Medical Genetics, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey
2 Department of Medical Genetics, Istanbul Education and Research Hospital, Istanbul, Turkey

* Corresponding Author: Neslihan Duzkale. Email: email

Oncologie 2020, 22(4), 225-234.


Multiple primary malignant neoplasms (MPMN) are rare tumors that have attracted attention with increasing incidence rates in recent years and where cancer susceptibility genes may play a role in their etiology. In this study, it was aimed to determine the genotype-phenotype correlation in patients with MPMN. From January 2018 to January 2020, thirty patients were analyzed for 59 cancer susceptibility genes and diagnosed with MPMN, using a large multigene panel with Next Generation Sequencing technique (NGS) in Turkey. The mean age of first and second cancer diagnosis of cases were calculated as 42.5 and 49.9 (respectively). These primary cancers were frequently detected in the colon and breast, and the interval between diagnosis was 89 months. In 9 of the patients (30%); BRCA2, MSH6, MLH1, MUTYH, and ATM were detected as causal genes. Relatives with cancer of MPMN patients with causative gene carriers were detected in higher numbers than non-carrier. According to the logistic regression model applied, patients with at least 1 relatives with cancer were found to have a 0.38-fold increased risk of being a causal gene variant carrier. Hereditary cancer susceptibility genes may play an important role in the etiology of MPMN. In MPMN cases, detection of the causal gene by genetic analysis; It will enable not only to ensure a complete and accurate diagnosis of the sick individual and to plan the treatment properly, but also to include the carriers’ relatives in the intensive cancer screening, monitoring, and prevention program.


Cite This Article

Duzkale, N., Demıral, E. (2020). The Investigation of Genotype-Phenotype Relationship in Multiple Primary Malignant Neoplasia Patients. Oncologie, 22(4), 225–234.

cc This work is licensed under a Creative Commons Attribution 4.0 International License , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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