Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool

Author:

Garutti Mattia1ORCID,Foffano Lorenzo12,Mazzeo Roberta12,Michelotti Anna12ORCID,Da Ros Lucia1,Viel Alessandra3,Miolo Gianmaria1ORCID,Zambelli Alberto45ORCID,Puglisi Fabio12ORCID

Affiliation:

1. CRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy

2. Department of Medicine, University of Udine, 33100 Udine, Italy

3. Unit of Oncogenetics and Genomics CRO Aviano, National Cancer Institute, IRCCS, 33081 Aviano, Italy

4. Medical Oncology and Hematology Unit, IRCCS—Humanitas Research Hospital, Rozzano, 20089 Milan, Italy

5. Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, 20072 Milan, Italy

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.

Funder

Italian Ministry of Health—Ricerca Corrente

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

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