Patients with Lynch syndrome, one of the most common hereditary tumor predisposition syndromes, harbor an increased risk for a broad spectrum of especially gastrointestinal and gynecological tumors. Causative for the syndrome are variants in DNA mismatch repair genes, which are passed on to the offspring at a 50% chance (autosomal dominant inheritance). The tumor tissue of these patients usually shows microsatellite instability, which is of increasing relevance regarding prognosis and therapeutic decisions. The detection of a causative genetic variant in a patient enables predictive testing of family members to provide relief to noncarriers and provide carriers with intensified risk-adapted surveillance. In addition, chemoprevention with aspirin (acetylsalicylic acid) has been proven useful for chemoprevention in studies. Therefore, the diagnosis of Lynch syndrome is important for patients and their relatives.
Keyphrases
- end stage renal disease
- case report
- chronic kidney disease
- newly diagnosed
- ejection fraction
- peritoneal dialysis
- low dose
- prognostic factors
- genome wide
- public health
- copy number
- gene expression
- metabolic syndrome
- skeletal muscle
- patient reported outcomes
- coronary artery disease
- mitochondrial dna
- cell free
- atrial fibrillation
- insulin resistance
- circulating tumor
- cardiovascular events
- genetic diversity
- real time pcr