Abstract
The hallmark of Lynch syndrome involves germline mutations of genes important in DNA mismatch repair. Affected family kindreds will have multiple associated malignancies, the most common of which is colorectal adenocarcinoma. Recently, evidence has shown that clinical diagnostic criteria provided by the Amsterdam Criteria and the Bethesda Guidelines must be linked with microsatellite instability testing to correctly diagnose Lynch syndrome. We present a case of metachronous colorectal adenocarcinomas in a patient less than 50 years of age, followed by a discussion of Lynch syndrome, with an emphasis on surveillance and prevention of malignancies.
Original language | English (US) |
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Pages (from-to) | 170-179 |
Number of pages | 10 |
Journal | Critical Reviews in Oncology/Hematology |
Volume | 93 |
Issue number | 3 |
DOIs | |
State | Published - Mar 1 2015 |
Externally published | Yes |
Keywords
- Colorectal cancer
- Hereditary gastrointestinal malignancies
- Lynch syndrome
- Microsatellite instability
- Mismatch repair
ASJC Scopus subject areas
- Hematology
- Oncology