{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,4]],"date-time":"2026-01-04T10:36:25Z","timestamp":1767522985449,"version":"3.40.4"},"reference-count":14,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["GE Port J Gastroenterol"],"published-print":{"date-parts":[[2021]]},"abstract":"<jats:p>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. <\/jats:p>","DOI":"10.1159\/000513966","type":"journal-article","created":{"date-parts":[[2021,2,4]],"date-time":"2021-02-04T22:01:36Z","timestamp":1612476096000},"page":"403-409","source":"Crossref","is-referenced-by-count":3,"title":["Multi-Gene Panel Testing in Gastroenterology: Are We Ready for the Results?"],"prefix":"10.1159","volume":"28","author":[{"given":"Fl\u00e1vio","family":"Pereira","sequence":"first","affiliation":[]},{"given":"Manuel\u00a0R.","family":"Teixeira","sequence":"additional","affiliation":[]},{"given":"M\u00e1rio","family":"Dinis\u00a0Ribeiro","sequence":"additional","affiliation":[]},{"given":"Catarina","family":"Brand\u00e3o","sequence":"additional","affiliation":[]}],"member":"127","published-online":{"date-parts":[[2021,2,4]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","unstructured":"O\u2019Leary E, Iacoboni D, Holle J, Michalski ST, Esplin ED, Yang S, et al. 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Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1 [Internet]. Nat Genet. 2012 May;44(6):699\u2013703.","DOI":"10.1038\/ng.2263"},{"key":"ref11","doi-asserted-by":"publisher","unstructured":"Clarke E, Green RC, Green JS, Mahoney K, Parfrey PS, Younghusband HB, et al. Inherited deleterious variants in GALNT12 are associated with CRC susceptibility. Hum Mutat. 2012 Jul;33(7):1056\u20138.","DOI":"10.1002\/humu.22088"},{"key":"ref12","doi-asserted-by":"publisher","unstructured":"Beard C, Purvis R, Winship IM, Macrae FA, Buchanan DD. Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene [Internet]. Fam Cancer. 2019 Jul;18(3):311\u20135.","DOI":"10.1007\/s10689-019-00120-0"},{"key":"ref13","doi-asserted-by":"publisher","unstructured":"Terradas M, Munoz-Torres PM, Belhadj S, Aiza G, Navarro M, Brunet J, et al. Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes. Hum Mutat. 2019 Nov;40(11):1910\u201323.","DOI":"10.1002\/humu.23853"},{"key":"ref14","doi-asserted-by":"publisher","unstructured":"Aslanian HR, Lee JH, Canto MI. AGA Clinical Practice Update on Pancreas Cancer Screening in High-Risk Individuals: expert Review [Internet]. 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