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GI Including GIST

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Genomic Medicine

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Abstract

Several molecular tests are performed routinely for the management of the upper GI adenocarcinomas and colorectal cancer (CRC), including testing for microsatellite instability, KRAS and BRAF mutations and HER2 gene amplifications. Other molecular biomarkers are emerging as clinically important as new resistance mechanisms are identified and/or as new targeted therapies are developed. In gastrointestinal stromal tumors (GISTs), molecular tests are critical to classify GISTs in distinct groups that can be matched to specific therapies. Although the majority of molecular tests aim at the detection of sporadic genetic alterations, germline testing for pathogenic genetic aberrations is also very important in patients with a family history and/or early onset of cancer. This chapter discusses established and emerging molecular biomarkers in CRC, upper GI adenocarcinomas, and GISTs. It also summarizes common hereditary GI cancer syndromes and the genetic alterations that underlie them.

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Author information

Authors and Affiliations

  1. Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY, USA

    Efsevia Vakiani

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  1. Efsevia Vakiani
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Correspondence to Efsevia Vakiani .

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Editors and Affiliations

  1. Dartmouth–Hitchcock Medical Center, Lebanon, NH, USA

    Laura J. Tafe

  2. Memorial Sloan Kettering Cancer Center, New York, NY, USA

    Maria E. Arcila

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Vakiani, E. (2020). GI Including GIST. In: Tafe, L., Arcila, M. (eds) Genomic Medicine. Springer, Cham. https://doi.org/10.1007/978-3-030-22922-1_7

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  • DOI: https://doi.org/10.1007/978-3-030-22922-1_7

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-22921-4

  • Online ISBN: 978-3-030-22922-1

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