Hereditary cancer syndromes (HCSs) are inherited disorders caused by germline pathogenic variants that lead to an increased risk of developing certain types of cancer, frequently at an earlier age than in the general population. They are typically inherited in an autosomal dominant manner, with a 50% risk of transmission to offspring. HCSs account for nearly 10% of cancers even though they are often underdiagnosed. The disease-causing variants usually occur in a single tumor suppressor gene, in a single oncogene involved in cell cycle regulation, or in the DNA damage repair mechanisms. Thanks to the enormous technological developments in the last decade more and more new information and genomic data are available for hereditary cancer syndromes. This facilitates the identification of pathogenic gene variants, which can have dramatic implications for pharmacological treatments, personalized prevention programs, and familiar cascade testing.

This Special Issue welcomes contributions that improve our understanding of the genetic defects and pathomechanisms underlying hereditary cancer syndromes. Moreover, we would like to focus on the specific issues related to the patient's management.

Potential areas of interest may include, but are not limited to:
● Genotype-phenotype analyses in hereditary cancer syndromes.
● Molecular targeted therapy.
● Specific issues of patients' care and management.
● Innovative therapies.
● Treatment strategies.
● Functional or animal studies related to this field.

Even though abstract submission is not mandatory, we encourage all interested researchers to submit an abstract before submitting their manuscript. Abstracts do not have to coincide with the final abstract of the manuscripts.For authors, please review the journal's information regarding Author Guidelines and Article Processing Charges, or direct any questions to the Editorial Office: por@por-journal.com.

Article types and fees

This Special Issue accepts the following article types, unless otherwise specified in the Special Issue description:

• Brief Research Report
• Case Report
• Commentary
• Guideline
• Hypothesis & Theory
• Letter to the Editor
• Mini Review
• Original Research
• Review
• ... View all formats

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Article types

This Special Issue accepts the following article types, unless otherwise specified in the Special Issue description:

• Brief Research Report
• Case Report
• Commentary
• Guideline
• Hypothesis & Theory
• Letter to the Editor
• Mini Review
• Original Research
• Review
• Systematic Review

Keywords: hereditary cancer syndromes, cancer predisposition syndromes, personalized therapy, germline pathogenic variants, NGS