Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool.
Mattia GaruttiLorenzo FoffanoRoberta MazzeoAnna MichelottiLucia Da RosAlessandra VielGianmaria MioloAlberto ZambelliFabio PuglisiPublished in: Genes (2023)
Hereditary cancer syndromes account for nearly 10% of cancers even though they are often underdiagnosed. Finding a pathogenic gene variant could have dramatic implications in terms of pharmacologic treatments, tailored preventive programs, and familiar cascade testing. However, diagnosing a hereditary cancer syndrome could be challenging because of a lack of validated testing criteria or because of their suboptimal performance. In addition, many clinicians are not sufficiently well trained to identify and select patients that could benefit from a genetic test. Herein, we searched the available literature to comprehensively review and categorize hereditary cancer syndromes affecting adults with the aim of helping clinicians in their daily clinical practice through a visual tool.
Keyphrases
- genome wide
- dna methylation
- papillary thyroid
- copy number
- squamous cell
- lymph node metastasis
- clinical practice
- ejection fraction
- palliative care
- systematic review
- gene expression
- public health
- newly diagnosed
- end stage renal disease
- childhood cancer
- chronic kidney disease
- case report
- transcription factor
- smoking cessation
- body composition