Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool

Genes (Basel). 2023 Apr 30;14(5):1025. doi: 10.3390/genes14051025.

Abstract

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.

Keywords: BRCA; Li–Fraumeni; breast cancer; cancer genetics; cancer predisposition syndromes; colon cancer; hereditary cancer syndromes; lynch syndrome; melanoma.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Humans
  • Neoplastic Syndromes, Hereditary* / diagnosis
  • Neoplastic Syndromes, Hereditary* / genetics

Grants and funding

This work was supported by the Italian Ministry of Health—Ricerca Corrente.