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Special Issue "BRCA-Associated Breast Cancer"
A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Molecular Cancer Biology".
Deadline for manuscript submissions: 15 December 2023 | Viewed by 3442
Special Issue Editors
Interests: cancer genetic counseling; breast cancer; hereditary syndromes
Interests: breast cancer; resistance; targeted therapy; biomarkers
Special Issues, Collections and Topics in MDPI journals
Interests: breast cancer; fertility preservation
Special Issues, Collections and Topics in MDPI journals
Special Issue in Cancers: Precision Medicine in Breast Cancer Treatment
Special Issue Information
In recent years, an increasing number of advancements have been made regarding BRCA-associated breast cancer. Advancements have been made concerning molecular diagnosis, genetic testing, the management of early or metastatic carcinoma, the management of long-survival patients for their risk of second primary tumors, surgical procedures, and clinical follow-up. Few data are available concerning the specific site of pathogenetic variants and the associated cancer spectrum. Variants of unknown significance foresee active research. Currently, fertility and fertility preservation in females with BRCA-associated breast cancer are highly relevant topics in this specific oncological field. I think that scientifically, this topic is very stimulating; for these reasons, I have decided to launch this Special Issue entitled “BRCA-associated breast cancer”.
We are pleased to invite you to contribute with original articles and real-world experiences. Reviews and systematic reviews are also welcome.
This Special Issue aims to report original research, and real-world experiences in this field, examining these topics from different perspectives, i.e., oncological, radiological, surgical, and psychological perspectives.
Research areas may include (but are not limited to) the following: molecular genetics and genetic testing, the clinical management of healthy at-risk subjects, the treatment of patients with BRCA-related breast cancer, surgical management, and fertility issues concerning carriers of BRCA pathogenetic variants.
We look forward to receiving your contributions.
Dr. Matilde Pensabene
Dr. Carmine De Angelis
Prof. Dr. Matteo Lambertini
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. 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 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.
- breast cancer
- risk reducing mastectomy
- genetic testing
The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.
Title: Biological Therapies Beyond PARP-Inhibitors in Advanced Breast Cancer Patients with Germline BRCA Mutations
Authors: M. Nerone1; F. Conforti2; L. Rossi1; V. Ratti1; R. Graffeo1
Affiliation: 1 Oncology Institute of Southern Switzerland, EOC, Bellinzona, Switzerland 2 Medical Oncology, Humanitas Gavazzeni Hospital, Bergamo, Italy
Abstract: The treatment landscape for advanced breast cancer (BC) has been expanding due to the development of biological drugs with demonstrated efficacy across all breast cancer subtypes. The role of poly (ADP-ribose) polymerase (PARP) inhibitors in advanced BC is well established for the treatment of pathogenic variants (PVs) germline BRCA-mutated (gBRCAm) HER2-negative BC, regardless of hormone receptor (HR) expression. Nevertheless, there is very little data on the efficacy of other drugs in the event of disease progression in patients with gBRCAm BC. This review provides an update on the efficacy of biological drugs, approved in the US and Europe, for the treatment of advanced BC, in gBRCAm BC patients. The efficacy of trastuzumab deruxtecan, an antibody-drug conjugate (ADC) targeting HER2 for Her-2 low breast cancer, has been increasingly described. Unfortunately, data on trastuzumab deruxtecan in HER2-positive or HER2-low metastatic BC harboring gBRCAm is lacking. Including germinal BRCA status in the subgroup analysis of the registration trials of this ADC would be of great interest, especially in the phase III trial DESTINY-breast04. This trial involved patients with HR-negative BC, which was classified as triple-negative, and now categorized as HER2-low, therefore there is a high probability that some women were gBRCA carriers and this data was not reported. In this review, we also explore the outcomes of germline BRCA PVs in the endocrine-sensitive disease treated with first line standard of care CDK4/6 inhibitors. Germinal BRCA status was not included in the subgroup analysis of the CDK4/6 registration trials. Three studies retrospectively showed a reduction in overall survival and progression free survival in gBRCAm patients compared to both BRCA wild type and the untested population. Regarding the efficacy of PI3Ka-Inhibitors, there are no subgroup or biomarker analyses in which germinal BRCA status was explored. However, the biological interactions between the PIK3CA/AKT/mTOR pathway and BRCA at a molecular level could help us to understand the activity of these drugs when used to treat BC in BRCA carriers. In conclusion, germline BRCA status will be available for a higher number of individuals with BC in the near future and data on the prognostic and predictive role of gBRCAm is needed in order to choose the best treatment.