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Genetics and Genomics of Human Breast Cancer
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Genetics and Genomics of Human Breast Cancer

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (20 March 2025) | Viewed by 1612

Special Issue Editor

Prof. Dr. Peter Devilee

E-Mail Website
Guest Editor
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
Interests: familial breast cancer; breast cancer prevention; genetic predisposition; comprehensive risk assessment

Special Issue Information

Dear Colleagues,

The genetics and genomics of breast cancer cover a field of research that includes inherited predisposition to breast cancer as well as somatic genetic changes that determine the course of disease and response to therapies. Both fields have seen tremendous progress in the past two decades as a result of technological developments in microarray and nucleotide sequencing technologies, which have opened avenues towards personalised prevention and treatment strategies. This Special Issues invites papers that present original work in both areas, for example, describing new factors associated with breast cancer predisposition, or with therapeutic response, or new insights in the functional impact of genetic or genomic variation with respect to breast cancer development. Work describing statistical or bioinformatic analyses of complex genetic models or interactions, and their impact on risk assessment and disease management, is also welcome.

Prof. Dr. Peter Devilee
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. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). 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

  • breast cancer genetic predisposition
  • breast cancer genome analyses
  • genetics-driven personalised breast cancer prevention
  • genomics-driven personalised breast cancer treatment
  • breast cancer somatic genetic changes

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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Research

10 pages, 458 KiB  
Article
Clinicopathological Characteristics of Ovarian and Breast Cancer in PALB2, RAD51C, and RAD51D Germline Pathogenic Variant Carriers
by Jella-Rike J. A. H. Spijkervet, L. Lanjouw, L. P. V. Berger, M. D. Dorrius, B. van der Vegt and G. H. de Bock
Genes 2025, 16(5), 556; https://doi.org/10.3390/genes16050556 - 2 May 2025
Viewed by 404
Abstract
Background/Objectives: Germline pathogenic variants (GPVs) in PALB2, RAD51C, and RAD51D increase breast cancer (BC) and ovarian cancer (OC) risk. Limited data on clinicopathological characteristics of BC and OC in women with these GPVs hamper guideline development. Therefore, this study aims to [...] Read more.
Background/Objectives: Germline pathogenic variants (GPVs) in PALB2, RAD51C, and RAD51D increase breast cancer (BC) and ovarian cancer (OC) risk. Limited data on clinicopathological characteristics of BC and OC in women with these GPVs hamper guideline development. Therefore, this study aims to describe these characteristics in a consecutive series of female PALB2, RAD51C, and RAD51D GPV carriers. Methods: Women with a PALB2, RAD51C, or RAD51D GPV determined before July 2023 at the University Medical Center Groningen were included. Cancer diagnoses were obtained through linkage with the Dutch Nationwide Pathology Databank (Palga). Median onset age and histopathological subtypes were compared to the data of The Netherlands Cancer Registry (NCR). Results: Among 164 GPV carriers (125 PALB2, 30 RAD51C, and 9 RAD51D), 54 BC and 6 OC cases were identified. The median BC onset age was 52 (n = 50), 71 (n = 3), and 43 years (n = 1) for PALB2, RAD51C, and RAD51D, respectively, compared with 62 years in the NCR. No BC histological subtype differences were observed in PALB2 carriers. The populations of RAD51C and RAD51D carriers were too small to compare to NCR data. No OC cases occurred in PALB2 carriers. The median OC onset age was 66 (n = 4) and 56 years (n = 2) for RAD51C and RAD51D carriers, respectively, versus 67 years in the NCR. All RAD51D carriers had high-grade serous carcinoma, compared to 51.5% in the NCR. Conclusions: Differences in onset age and histological subtypes were observed between GPV carriers and national data. Further research on cancer characteristics is needed to optimize counseling and cancer prevention in these women. Full article
(This article belongs to the Special Issue Genetics and Genomics of Human Breast Cancer)
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8 pages, 263 KiB  
Article
Swedish Genome-Wide Haplotype Association Analysis Suggests Breast Cancer Loci with Varying Risk-Modifying Effects
by Litika Vermani, Elin Barnekow, Wen Liu, Camilla Wendt, Per Hall, Sara Margolin and Annika Lindblom
Genes 2024, 15(12), 1616; https://doi.org/10.3390/genes15121616 - 17 Dec 2024
Viewed by 656
Abstract
Background: To find support for risk-modifying genes in breast cancer, a haplotype GWAS in sporadic breast cancer cases was undertaken. The results were compared with the results from previous analyses in familial cases and all cases from the same Swedish cohort. Methods: In [...] Read more.
Background: To find support for risk-modifying genes in breast cancer, a haplotype GWAS in sporadic breast cancer cases was undertaken. The results were compared with the results from previous analyses in familial cases and all cases from the same Swedish cohort. Methods: In total, 2550 women with sporadic invasive breast cancer and 5021 healthy controls were included in a sliding-window haplotype GWAS using PLINK 1.07. Results: The analysis of sporadic cases confirmed the loci on chromosomes 10q26.13, 11q13.3, and 16q12.1 and suggested one novel locus on chromosome 12p11.21 (OR = 1.42 p = 4.55 × 10−8). A comparison between these loci and the same loci in the analyses of familial cases and all breast cancer cases was undertaken. Conclusions: Haplotype GWAS in sporadic cases of Swedish breast cancer cases supported known risk loci and suggested another risk locus. The loci identified in the analysis of sporadic and all breast cancer cases were suggested to act as modifiers of the risk of breast cancer. Haplotype analysis identified other loci with higher odds ratios than single-variant analysis. Further studies are needed to find out how to best include the findings in breast cancer prevention. Full article
(This article belongs to the Special Issue Genetics and Genomics of Human Breast Cancer)
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