Abstract

PEREIRA, Flávio; TEIXEIRA, Manuel R.; RIBEIRO, Mário Dinis  and  BRANDAO, Catarina. Multi-Gene Panel Testing in Gastroenterology: Are We Ready for the Results?. GE Port J Gastroenterol [online]. 2021, vol.28, n.6, pp.403-409.  Epub Mar 30, 2022. ISSN 2341-4545.  https://doi.org/10.1159/000513966.

Genetic testing aims to identify patients at risk for inherited cancer susceptibility. In the last decade, there was a significant increase in the request of broader panels of genes as multi-gene panel testing became widely available. However, physicians may be faced with genetic findings for which there is lack of management evidence, despite some progress in understanding their clinical relevance. In this short review, we discuss the advantages and the drawbacks related to multi-gene panel testing in the setting of a Gastrointestinal Familial Cancer Risk clinic. We also summarize the available recommendations on management of pathogenic variant carriers.

Keywords : Multi-gene panel testing; Gastrointestinal cancer risk; Hereditary cancer; Genetic counselling.

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