Genomic Mutations and Susceptibility in 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: 25 September 2026 | Viewed by 115
Special Issue Editor
Special Issue Information
Dear Colleagues,
Predisposition to breast cancer has moved well beyond the binary lens of BRCA1/2 status. A richer, more stratified genomic landscape is emerging, one organized by penetrance level and increasingly sensitive to ancestry. To this end, rare mutations in BRCA1, BRCA2, TP53, PTEN, CDH1, and STK11 carry lifetime risks that approach 80%. Moderate-penetrance genes PALB2, ATM, and CHEK2 increase baseline risk, with PALB2, in particular, reaching BRCA-comparable thresholds in women with strong familial histories. Underpinning both tiers, polygenic risks are key to further individualize prediction. Hence, for this Special Issue, titled “Genomic Mutations and Susceptibility in Breast Cancer”, in the journal Genes, we are calling for papers to develop a deeper understanding on this topic.
Aside from inherited architecture, new dimensions of timing and equity are reshaping the field. Advances with whole-genome sequencing reveal that oncogenic alterations may be initiated decades before diagnosis, with evidences pointing to changes as early as puberty. Newly developed multi-ancestry ensemble models have greatly improved risk prediction for women. Therapeutically, acquired somatic mutations such as ESR1 emerging under endocrine pressure and PIK3CA are now actionable biomarkers guiding the use of SERDs and PI3K inhibitors. Together, these nuances push breast cancer risk assessment toward a more individualized, dynamic model that integrates inherited variants, polygenic scores, ancestry, and tumor evolution.
Dr. Balaji Virassamy
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 250 words) can be sent to the Editorial Office for assessment.
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
- genetic variants
- somatic mutation landscape
- morphological variation
- oncogenic timing
- next-generation sequencing
- targeted therapies
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.
Further information on MDPI's Special Issue policies can be found here.
