Molecular profiling has transformed the understanding and management of breast cancer, revealing its heterogeneity as a collection of distinct biological entities. This approach enables the characterization of tumors beyond traditional histopathological features, facilitating personalized treatment strategies based on genetic and molecular signatures. In hereditary cases, such as those linked to BRCA1/2 pathogenic variants, molecular profiling aids in risk assessment and informs targeted therapies. In addition to molecular analysis, functional assays have a role in evaluating the biological significance of variants of uncertain significance (VUS). For sporadic cases, it enhances prognostication and guides therapeutic decisions, ensuring that treatments align with the tumor's unique molecular characteristics, ultimately improving patient outcomes.
The primary goal of our special issue is to enhance the understanding and application of molecular profiling in breast cancer, focusing on both hereditary and sporadic cases. This collection aims to address critical challenges, including tumor heterogeneity and the integration of molecular data into clinical practice. By presenting innovative research and expert perspectives, we seek to highlight the role of molecular profiling in developing personalized treatment strategies and improving risk assessment. Furthermore, we will explore emerging technologies and methodologies that advance our knowledge of breast cancer biology, promoting collaboration among researchers, clinicians, and policymakers. Ultimately, this special issue aspires to bridge the gap between preclinical discoveries and clinical applications, thereby improving therapeutic outcomes for patients with breast cancer.
This research topic welcomes original research articles, case reports, reviews, and clinical trials in the following areas:
• Identification of molecular alterations in hereditary breast cancer
• Innovative strategies for molecular profiling of breast cancers
• Functional assays to evaluate the biological significance of VUS
• Genomic characterization of breast cancers for personalized medicine
• Insights into the molecular and cellular mechanisms of breast cancer oncogenesis
• Manuscripts on evaluating germline mutations via molecular profiling, ethical aspects of genetic testing in research and practice, and the importance of informed consent.
This Research Topic will also explore the distinct implications of germline and somatic mutational findings in cancer, emphasizing their differing relevance to targeted therapies. Additionally, it will address the evaluation of germline mutations identified through molecular profiling rather than traditional genetic counselling and testing. Ethical considerations, including the need for informed consent in genetic testing for research and clinical practice, will also be a focal point.
Please note: Manuscripts consisting solely of bioinformatics, computational analysis, or predictions of public databases which are not accompanied by validation (independent clinical or patient cohort, or biological validation in vitro or in vivo, which are not based on public databases) are not suitable for publication in this journal.
Keywords: Breast cancer, Hereditary Breast and Ovarian Cancer, Sporadic breast cancer, Molecular characterization, Next-Generation Sequencing Functional Analysis
Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.
