2024, Volume 17, Issue 6, pp 564 – 573

Somatic and germline mutations in endometrial cancer

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Authors and Affiliations

Corresponding author Simona Raluca Iacoban Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania E-mail: simona@iacoban.ro

Authors have contributed equally

Abstract

Endometrial cancer is a complex disease influenced by both somatic and germline mutations. While individual mutations in genes such as PTEN, PIK3CA, and members of the DNA mismatch repair (MMR) system have been extensively studied, comprehensive analyses comparing somatic and germline mutations within the same cohort are limited. This study compares these mutations using whole exome sequencing (WES) data from tumor and blood samples in patients with endometrial cancer. Thirteen female patients with histologically confirmed endometrial cancer were selected. Tumor tissues and matched blood samples were collected and subjected to WES at the CeGaT laboratory, followed by bioinformatics analysis and annotation using the Geneyx platform. WES revealed significant somatic and germline DNA mutations, with key pathogenic variants identified in genes such as PTEN, PIK3CA, TP53, MLH1, and MSH2. Comparative analysis showed distinct and overlapping mutation profiles, highlighting the importance of integrating somatic and germline data in endometrial cancer research.

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About this article

PMC ID: 11407495
PubMed ID: 39296440
DOI: 10.25122/jml-2024-0313

Article Publishing Date (print): 6 2024
Available Online: 

Journal information

ISSN Printing: 1844-122X
ISSN Online: 1844-3117
Journal Title: Journal of Medicine and Life

Copyright License: Open Access

This article is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use and redistribution provided that the original author and source are credited.


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