Expanding Horizons in Hereditary Breast Cancer: BRCA Genes and Beyond

Hereditary breast cancer due to genetic mutations accounts for 5% to 10% of breast cancers. Breast cancer is the most frequent type of cancer among women worldwide and the second leading cause of cancer deaths in women. More importantly, current evidence suggests that in women aged <45 years, breast cancer is the leading cause of cancer-related deaths. Although breast cancer is commonly sporadic, hereditary breast cancer arises in 5-10% of cases. The most common cause of hereditary breast cancer is an inherited mutation in the BRCA1 or BRCA2 gene. Other common hereditary breast cancer syndromes include Li‐Fraumeni syndrome, Cowden syndrome, Peutz‐Jeghers syndrome, and hereditary diffuse gastric cancer syndrome. Moreover, other high and medium penetrance genes, such as PALB2, ATM, CHECK2, BARD1 and RAD51D are associated with increased risk of breast cancer.

This Research Topic aims to present recent progress in hereditary breast cancer research taking into account the progress driven by the implementation of multi gene panel testing for hereditary breast cancer as well as by the introduction of PARP inhibitors. Currently, next-generation sequencing (NGS) technologies allow the analysis of a set of genes simultaneously, thus enabling sequencing of BRCA1/2 concomitantly with additional genes. Thus, the detection of germline pathogenic variants in BRCA1/2 and other breast cancer susceptibility genes has been risen exponentially. On the other hand, variants of unknown significance are occasionally detected that can hardly be appropriately interpreted. In the era of NGS and targeted treatments research questions evolve within the fields of genetic counselling, prevention, diagnosis, and management of familial and hereditary breast cancer.

We welcome Original Research, Review, Mini Review and Perspective articles on themes including, but not limited to:

• Indications for Genetic testing
• Handling of Variants of unknown significance
• Genetic counselling
• Surveillance strategies in individuals at risk
• Primary prevention in individuals at risk
• Surgery in hereditary reast cancer patients
• PARP inhibitors and BRCA1/2

Please note: manuscripts consisting solely of bioinformatics, computational analysis, or predictions of public databases which are not accompanied by validation (independent cohort or biological validation in vitro or in vivo) will not be accepted in any of the sections of Frontiers in Oncology.

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Case Report
• Clinical Trial
• Editorial
• FAIR² Data
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• ... View all formats

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Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Case Report
• Clinical Trial
• Editorial
• FAIR² Data
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• Review
• Study Protocol
• Systematic Review
• Technology and Code

Keywords: hereditary breast cancer, genetic testing, prevention, diagnosis, treatment

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.