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Journal of Cancer Research and Clinical Oncology

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07-04-2023 | Pleural Mesothelioma | Research

Genetic analysis of familial predisposition in the pathogenesis of malignant pleural mesothelioma

Authors: Muhittin Akarsu, Güntülü Ak, Emine Dündar, Muzaffer Metintaş

Published in: Journal of Cancer Research and Clinical Oncology | Issue 10/2023

Abstract

Purpose

Mesothelioma is the primary tumor of the mesothelial cell membrane. The most important etiology is asbestos exposure. The development of malignant mesothelioma in very few of the population exposed to asbestos and its frequent occurrence in some families may be significant in terms of genetic predisposition. Again, the presence of relatives with mesothelioma who did not have asbestos contact strengthens this argument. This disease, which has limited treatment options and has a poor prognosis, revealing a genetic predisposition, if any, may prolong survival with early diagnosis and effective treatment.

Methods

Based on the genetic predisposition idea, we diagnosed and followed a total of ten individuals of relatives with mesothelioma. DNA was isolated from peripheral blood and whole genome sequencing analysis was done. Common gene mutations in ten individuals were filtered using bioinformatics. After this filter, from the remaining variants, very rare in the population and damaging mutations are selected.

Results

Eight thousand six hundred and twenty-two common variants have been identified in ten individuals with this analysis. In total, 120 variants were found on 37 genes in 15 chromosomes. These genes are PIK3R4, SLC25A5, ITGB6, PLK2, RAD17, HLA-B, HLA-DRB1, HLA-DQB1, GRM, IL20RA, MAP3K7, RIPK2, and MUC16.

Conclusion

Our finding, PIK3R4 gene, is directly associated with mesothelioma development. Twelve genes, which are associated with cancer, were detected in literature. Additional studies, which scan first-degree relatives of individual, are needed to find the specific gene region.

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Title: Genetic analysis of familial predisposition in the pathogenesis of malignant pleural mesothelioma
Authors: Muhittin Akarsu
Güntülü Ak
Emine Dündar
Muzaffer Metintaş
Publication date: 07-04-2023
Publisher: Springer Berlin Heidelberg
Keywords: Pleural Mesothelioma
Pleural Mesothelioma
Mesothelioma
Published in: Journal of Cancer Research and Clinical Oncology / Issue 10/2023
Print ISSN: 0171-5216
Electronic ISSN: 1432-1335
DOI: https://doi.org/10.1007/s00432-023-04730-1

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Abstract

Purpose

Methods

Results

Conclusion

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