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Molecular Genetics of Breast Cancer—Recent Progress
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Molecular Genetics of Breast Cancer—Recent Progress

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

Deadline for manuscript submissions: 20 September 2025 | Viewed by 4044

Special Issue Editor

Dr. Virginia Valentini

E-Mail Website
Guest Editor
Department of Molecular Medicine, Sapienza University of Rome, 00161 Rome, Italy
Interests: breast cancer; hereditary cancers; cancer genetics and genomics; mutational landscape of cancer; molecular epidemiology

Special Issue Information

Dear Colleagues,

Each year, about 30% of all newly diagnosed cancers in women are breast cancers. Breast cancer is likely to be caused by the concurrent effects of different risk factors, including genetic risk factors. On the other hand, this disease could be characterized as an evolutionary process driven by the accumulation of somatic mutations and clonal selection. Therefore, the genetic profiling of breast cancer is essential to improve our understanding of the molecular etiology of this disease. In this field, next-generation sequencing (NGS) technology allowed for not only the identification and validation of novel susceptibility genes, but also the identification of molecular biomarkers and therapeutic targets.

Expanded knowledge on the molecular genetics of breast cancer is the first step leading to the early diagnosis, preventative strategies and treatment personalization. This molecular characterization is also particularly essential in understudied groups of breast cancer patients, such as men affected by the disease.

This Special Issue will focus on the molecular genetics of breast cancer for improved risk assessment and personalized therapy. We invite researchers to submit original research articles describing novel data, methods, collaborative initiatives and reviews related to these topics.

We look forward to receiving your contributions.

Dr. Virginia Valentini
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

  • hereditary cancer
  • female breast cancer
  • male breast cancer
  • molecular oncology
  • cancer genetics
  • NGS of gene panels
  • transcriptomics
  • genetic predisposition to breast cancer
  • breast cancer risk
  • tumor profiling
  • predictive biomarkers
  • personalized treatment

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Published Papers (2 papers)

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25 pages, 3194 KiB  
Article
High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia
by Syuykum Shumilova, Anastasia Danishevich, Sergey Nikolaev, George Krasnov, Anna Ikonnikova, Darya Isaeva, Sergei Surzhikov, Alexander Zasedatelev, Natalia Bodunova and Tatiana Nasedkina
Int. J. Mol. Sci. 2024, 25(23), 12640; https://doi.org/10.3390/ijms252312640 - 25 Nov 2024
Viewed by 1097
Abstract
Assessments of breast cancer (BC) risk in carriers of pathogenic variants identified by gene panel testing in different populations are highly in demand worldwide. We performed target sequencing of 78 genes involved in DNA repair in 860 females with BC and 520 age- [...] Read more.
Assessments of breast cancer (BC) risk in carriers of pathogenic variants identified by gene panel testing in different populations are highly in demand worldwide. We performed target sequencing of 78 genes involved in DNA repair in 860 females with BC and 520 age- and family history-matched controls from Central Russia. Among BC patients, 562/860 (65.3%) were aged 50 years or less at the time of diagnosis. In total, 190/860 (22%) BC patients were carriers of 198 pathogenic/likely pathogenic (P/LP) variants in 30 genes, while among controls, 32/520 (6.2%) carriers of P/LP variants in 17 genes were identified. The odds ratio [95% confidence interval] was 16.3 [4.0–66.7] for BRCA1; 12.0 [2.9–45.9] for BRCA2; and 7.3 [0.9–56.7] for ATM (p < 0.05). Previously undescribed BRCA1/2, ATM, and PALB2 variants, as well as novel recurrent mutations, were identified. The contribution to BC susceptibility of truncating variants in the genes BARD1, RAD50, RAD51C, NBEAL1 (p. E1155*), and XRCC2 (p. P32fs) was evaluated. The BLM, NBN, and MUTYH genes did not demonstrate associations with BC risk. Finding deleterious mutations in BC patients is important for diagnosis and management; in controls, it opens up the possibility of prevention and early diagnostics. Full article
(This article belongs to the Special Issue Molecular Genetics of Breast Cancer—Recent Progress)
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9 pages, 1201 KiB  
Case Report
BRCA1 Intragenic Duplication Combined with a Likely Pathogenic TP53 Variant in a Patient with Triple-Negative Breast Cancer: Clinical Risk and Management
by Vuthy Ea, Claudine Berthozat, Hélène Dreyfus, Clémentine Legrand, Estelle Rousselet, Magalie Peysselon, Laura Baudet, Guillaume Martinez, Charles Coutton and Marie Bidart
Int. J. Mol. Sci. 2024, 25(11), 6274; https://doi.org/10.3390/ijms25116274 - 6 Jun 2024
Viewed by 1710
Abstract
For patients with hereditary breast and ovarian cancer, the probability of carrying two pathogenic variants (PVs) in dominant cancer-predisposing genes is rare. Using targeted next-generation sequencing (NGS), we investigated a 49-year-old Caucasian woman who developed a highly aggressive breast tumor. Our analyses identified [...] Read more.
For patients with hereditary breast and ovarian cancer, the probability of carrying two pathogenic variants (PVs) in dominant cancer-predisposing genes is rare. Using targeted next-generation sequencing (NGS), we investigated a 49-year-old Caucasian woman who developed a highly aggressive breast tumor. Our analyses identified an intragenic germline heterozygous duplication in BRCA1 with an additional likely PV in the TP53 gene. The BRCA1 variant was confirmed by multiplex ligation probe amplification (MLPA), and genomic breakpoints were characterized at the nucleotide level (c.135-2578_442-1104dup). mRNA extracted from lymphocytes was amplified by RT-PCR and then Sanger sequenced, revealing a tandem duplication r.135_441dup; p.(Gln148Ilefs*20). This duplication results in the synthesis of a truncated and, most likely, nonfunctional protein. Following functional studies, the TP53 exon 5 c.472C > T; p.(Arg158Cys) missense variant was classified as likely pathogenic by the Li-Fraumeni Syndrome (LFS) working group. This type of unexpected association will be increasingly identified in the future, with the switch from targeted BRCA sequencing to hereditary breast and ovarian cancer (HBOC) panel sequencing, raising the question of how these patients should be managed. It is therefore important to record and investigate these rare double-heterozygous genotypes. Full article
(This article belongs to the Special Issue Molecular Genetics of Breast Cancer—Recent Progress)
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