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Gene Mutations in Cancer
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Gene Mutations in Cancer

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 25 November 2025 | Viewed by 368

Special Issue Editor

Dr. Lucie Benešová

E-Mail Website
Guest Editor
Centre for Applied Genomics of Solid Tumors (CEGES), Genomac Research Institute, Drnovská 1112/60, 161 00 Prague, Czech Republic
Interests: gastrointestinal tumors; colorectal cancer; pancreatic cancer; cancer of the stomach; head and neck tumors; lung tumors and brain tumors; somatic mutations; circulating tumor DNA (ctDNA)

Special Issue Information

Dear Colleagues,

Current oncological research is based on the knowledge of somatic genetic alterations in the tumor tissue. This knowledge, in addition to providing scientists with an idea of ​​the cause of tumor formation, has the greatest benefit in that it can significantly influence the treatment of a particular tumor, or rather a patient. Specific genetic alterations can predict the patient's prognosis or allow the use of molecularly targeted therapy. A very promising area of ​​modern oncology research is the study of intratumor mutational heterogeneity, whether for understanding the complex functioning of the intratumor environment and its immense diversity or for determining the overall mutational burden in relation to predicting the response to immunotherapy. Another attractive approach is the use of specific genetic alterations to detect circulating tumor DNA (ctDNA), which occurs in the blood of cancer patients. Analysis of this so-called "liquid biopsy" allows non-invasive monitoring of the course of disease practically whenever needed.

This Special Issue welcomes all contributions (original articles and reviews) that support the latest trends in oncogenetic research, particularly those dealing with somatic genetic alterations, intratumor mutational heterogeneity, and liquid biopsy.

Dr. Lucie Benešová
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • oncogenetics
  • somatic mutations
  • intratumor mutational heterogeneity
  • tumor mutational burden
  • circulating tumor DNA
  • liquid biopsy

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Published Papers (1 paper)

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Research

17 pages, 732 KiB  
Article
Analysis of GEN1 as a Breast Cancer Susceptibility Gene in Polish Women
by Katarzyna Gliniewicz, Dominika Wokołorczyk, Wojciech Kluźniak, Klaudia Stempa, Tomasz Huzarski, Helena Rudnicka, Anna Jakubowska, Marek Szwiec, Joanna Jarkiewicz-Tretyn, Magdalena Cechowska, Paweł Domagała, Tadeusz Dębniak, Marcin Lener, Jacek Gronwald, Jan Lubiński, Steven A. Narod, Mohammad R. Akbari and Cezary Cybulski
Int. J. Mol. Sci. 2025, 26(13), 5991; https://doi.org/10.3390/ijms26135991 - 22 Jun 2025
Viewed by 228
Abstract
GEN1 is implicated in DNA damage repair, as are several other breast cancer susceptibility genes, and is included in several comprehensive next-generation sequencing (NGS) testing panels. To investigate the possible association of GEN1 variants with breast cancer risk, we sequenced this gene in [...] Read more.
GEN1 is implicated in DNA damage repair, as are several other breast cancer susceptibility genes, and is included in several comprehensive next-generation sequencing (NGS) testing panels. To investigate the possible association of GEN1 variants with breast cancer risk, we sequenced this gene in 617 Polish women with hereditary breast cancer (HBC) and 300 Polish cancer-free controls. No protein-truncating variants were detected in the conserved part of GEN1 (first 480 codons). Two frameshift variants were detected in the last exon of GEN1: c.2515_2519delAAGTT (p.Lys839Glufs*2) and c.1929_1932delAAAG (p.Lys645Cysfs*29). The p.Lys839Glufs*2 variant was detected in 21.1% of 617 HBC cases and 18.4% of 300 controls (p = 0.38). The p.Lys645Cysfs*29 variant was rare, seen in 0.6% of 617 HBC cases and 0.3% of 300 controls. The variant was then detected in 38 (0.24%) of 15,930 unselected breast cancer cases and 8 (0.17%) of 4702 cancer-free female controls from Poland (OR = 1.40, p = 0.49). Clinical characteristics of breast tumors in the 38 carriers of p.Lys645Cysfs*29 and 15,892 non-carriers were similar. Survival was similar among variant carriers and non-carriers (the age-adjusted HR = 0.87, p = 0.76). The wild-type GEN1 allele was retained in all five breast cancers of carriers of p.Lys645Cysfs*29. No cancer type was more frequent in the relatives of 35 p.Lys645Cysfs*29 variant carriers compared to the relatives of 14,592 non-carriers. We conclude that GEN1 is unlikely to be a high or moderate-risk breast cancer susceptibility gene. Our study has clinical implications for genetic counseling and suggests that GEN1 changes should be reclassified as variants of uncertain significance (VUS) when they are detected in clinical testing panels. Full article
(This article belongs to the Special Issue Gene Mutations in Cancer)
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