Precision Molecular Diagnostics and Biomarker-Driven Pathology in Breast and Gynecologic Cancers
A Special Issue of Cancers (ISSN 2072-6694).
Deadline for manuscript submissions: 31 March 2027 | Viewed by 42
Editor
Interests: molecular pathology; gynecological cancer; female reproductive tract; breast cancer
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Precision medicine has transformed the pathology of breast and gynecologic cancers, shifting diagnosis from morphology alone toward an integrated approach in which genomic, transcriptomic, and protein-based biomarkers guide classification, prognosis, and therapy selection. Germline and somatic tumor testing across these malignancies increasingly relies on comprehensive genomic profiling to identify actionable mutations, refine familial risk assessment, and match patients to targeted and immune-based treatments.
In breast cancer, molecular characterization extends well beyond estrogen receptor, progesterone receptor, and HER2 status. Intrinsic molecular subtyping and multigene expression assays now inform adjuvant treatment decisions, while germline and somatic BRCA1/2 alterations and broader homologous recombination deficiency guide the use of PARP inhibitors. PIK3CA, AKT1, and PTEN alterations have become therapeutically relevant, and the recognition of HER2-low and HER2-ultralow expression has redefined eligibility for antibody–drug conjugates such as trastuzumab deruxtecan. TROP2-directed therapy in triple-negative disease, PD-L1 assessment to guide immune checkpoint inhibitors, and ESR1 mutation detection in the metastatic and circulating-tumor-DNA setting illustrate how biomarker-driven pathology now shapes management at every stage.
For gynecologic cancers, parallel advances have modified diagnostic practice. In ovarian cancer, molecular profiling has identified key alterations such as TP53, BRCA1/2, and homologous recombination deficiency that are critical for guiding PARP inhibitors, and The Cancer Genome Atlas has defined a genomic landscape of recurrent somatic mutations and copy number changes informing targeted therapy. The molecular classification of endometrial cancer into four prognostic subtypes, now embedded in NCCN guidance, has moved into routine practice, with POLE mutation testing and HER2 assessment in serous carcinomas opening avenues for tailored and trastuzumab-based therapy. Cervical cancer management has benefited from PD-L1 immunohistochemistry to predict response to immune checkpoint inhibitors, and emerging data continue to refine the molecular understanding of vulvar and other less common gynecologic neoplasms.
Breast and gynecologic cancers are converging on a shared set of biomarkers and therapeutic targets—HER2, TROP2, and other antibody-conjugate antigens, homologous recombination status, PD-L1 expression, and POLE and PIK3CA alterations.
This Special Issue aims to bring together cutting-edge original research and reviews on precision molecular diagnostics and biomarker-driven pathology across breast and gynecologic malignancies, including but not limited to breast, ovarian, endometrial, cervical, and vulvar cancers.
Dr. Maria Olinca
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 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-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly 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 2900 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
- tumor genomics
- molecular diagnosis
- predictive biomarkers
- targeted therapies
- antibody–drug conjugates
- homologous recombination deficiency
- breast cancer
- gynecologic cancer
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