GI including GIST Book Section
| Author: | Vakiani, E. |
| Editors: | Tafe, L. J.; Arcila, M. E. |
| Article/Chapter Title: | GI including GIST |
| 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. © Springer Nature Switzerland AG 2020. |
| Keywords: | biomarkers; germline; gastrointestinal stromal tumors; gene amplification; microsatellite instability; gene therapy; genetic alterations; mapping; resistance mechanisms; molecular biomarker; gi cancer; pathogenics; sporadics |
| Book Title: | Genomic Medicine: A Practical Guide |
| ISBN: | 978-3-030-22921-4 |
| Publisher: | Springer |
| Publication Place: | Cham, Switzerland |
| Date Published: | 2020-01-01 |
| Start Page: | 103 |
| End Page: | 122 |
| Language: | English |
| DOI: | 10.1007/978-3-030-22922-1_7 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Book chapter: 7 -- Source: Scopus |
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