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Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool

Garutti M.
•
Foffano L.
•
Mazzeo R.
altro
Puglisi F.
2023
  • journal article

Periodico
GENES
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.
DOI
10.3390/genes14051025
Archivio
https://hdl.handle.net/11390/1252145
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85160372882
https://ricerca.unityfvg.it/handle/11390/1252145
Diritti
open access
Soggetti
  • BRCA

  • breast cancer

  • cancer genetic

  • cancer predisposition...

  • colon cancer

  • hereditary cancer syn...

  • Li–Fraumeni

  • lynch syndrome

  • melanoma

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