Germline mutations in critical high penetrance genes are responsible for cancer susceptibility, accounting for 5–10% of the incident tumours, which are therefore referred to as “hereditary tumours.” Individuals carrying inheritable mutations in these loci have a strongly increased risk of early onset neoplastic syndromes in several family members with a typical autosomal dominant pattern of inheritance. In some populations, specific mutant alleles recur with a higher carrier frequency because of a founder effect.

For several syndromes the causal genes have been identified. The most frequent syndromes include hereditary breast-ovarian cancer (HBOC), hereditary nonpolyposis colorectal cancer (Lynch syndrome), familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), neurofibromatosis type (NF1), and so forth. Examples of more rare syndromes are Li-Fraumeni syndrome, Cowden disease, von Hippel-Lindau syndrome, and so forth.

We invite investigators working in the field of familial cancer syndromes to contribute original research articles as well as review articles, which ideally should cover, whenever possible, the biological roles of the genes involved in cancer predisposition, tumor pathology, patient approach (genetic counseling and tools for risk assessment), technologies available for genetic analysis and early detection (automation and high-throughput sequencing), and novel therapeutic strategies (personalized medicine and gene-targeted therapies). Review articles should provide a comprehensive overview of the current knowledge, as well as outline the challenges and the open issues in the field. Potential topics include, but are not limited to:

• HBOC, Lynch syndrome, FAP, MAP, and Li-Fraumeni syndrome
• Studies aimed to further understanding the role of the cancer susceptibility genes in cell functions and organism development
• Recently elucidated molecular pathways involved in tumorigenesis of familial cancer syndromes
• Mutational analysis and population specific data
• Results from novel analytical technologies
• Genotype-phenotype correlations studies
• Morphopathological correlations studies
• Results emerging from animal models
• Advances and future directions on the pathways to individualized approaches for the early detection, treatment, and prevention

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