The current practice of lynch syndrome diagnosis and management in Italy: A qualitative assessment

Alessia Tognetto, Roberta Pastorino*, Sergio Castorina, Daniele Filippo Condorelli, Andrea Decensi, Corrado De Vito, Antonio Magnano, Franco Scaldaferri, Paolo Villari, Maurizio Genuardi, Stefania Boccia

*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivistaArticolo in rivista

3 Citazioni (Scopus)


Background: Lynch syndrome (LS) is the most frequent form of hereditary colorectal cancer (CRC; up to 3-5% of the total CRC burden) and predisposes to the development of other cancers. Multidisciplinary diagnostic strategies are relevant both to the index cases and to their at-risk relatives, but their implementation is still limited. Our study aimed to explore LS testing practices in Italy. Methods: In order to ascertain the current practice of LS diagnosis and management, we conducted a qualitative assessment by sending a questionnaire to health care professionals at 4 Italian hospitals selected as "models" representing different hospital settings. Based on the surveys, we reconstructed the management pathways for CRC patients in terms of diagnostic strategies and health professionals involved. Results: Seven of the 8 invited professionals filled in the questionnaire. Noncompliance with the latest guidelines was reported, as no tumor "screening" was performed on CRC cases. The lack of a structured multidisciplinary team who manages CRC patients from risk assessment to diagnosis and follow-up was reported. The availability of professionals and laboratory technologies differ widely between hospitals. As for cascade testing of at-risk relatives, a systematic and active approach was absent in all the considered hospitals. Conclusions: Our study shows that no structured and standardized pathways for the diagnosis and management of LS patients are currently in place in Italy. We envisage that by extending our research to further experiences and countries, an increasing awareness of the topic can be translated into a health gain for hereditary CRC patients and their at-risk relatives.
Lingua originaleEnglish
pagine (da-a)189-207
Numero di pagine19
RivistaPublic Health Genomics
Stato di pubblicazionePubblicato - 2020


  • Cancer genetics
  • Carrier screening
  • Genetic testing
  • Hereditary colorectal cancer
  • Lynch syndrome
  • Molecular genetics


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