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Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool.
Garutti, Mattia; Foffano, Lorenzo; Mazzeo, Roberta; Michelotti, Anna; Da Ros, Lucia; Viel, Alessandra; Miolo, Gianmaria; Zambelli, Alberto; Puglisi, Fabio.
Afiliação
  • Garutti M; CRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy.
  • Foffano L; CRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy.
  • Mazzeo R; Department of Medicine, University of Udine, 33100 Udine, Italy.
  • Michelotti A; CRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy.
  • Da Ros L; Department of Medicine, University of Udine, 33100 Udine, Italy.
  • Viel A; CRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy.
  • Miolo G; Department of Medicine, University of Udine, 33100 Udine, Italy.
  • Zambelli A; CRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy.
  • Puglisi F; Unit of Oncogenetics and Genomics CRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy.
Genes (Basel) ; 14(5)2023 04 30.
Article em En | MEDLINE | ID: mdl-37239385
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndromes Neoplásicas Hereditárias / Predisposição Genética para Doença Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndromes Neoplásicas Hereditárias / Predisposição Genética para Doença Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article