Hereditary Nonpolyposis Colorectal Cancer (HNPCC)/Lynch Syndrome: Surveillance and Diagnostic strategies
Authors
Abstract:
Introduction: Hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) is an autosomal dominant genetic disease. The disease is caused by a mutation in one of four genes of the DNA mismatch repair system and increases the risk for various cancers, especially the uterine and colon cancers. The prevalence of this disease in the general population is about 1 in 500 and it causes about 2-3% of colorectal cancers. Lynch syndrome is diagnosed in two stages: 1) the person is suspected of having the disease (because a patient is unusually diagnosed with cancer at a young age), and 2) evidence of incomplete repair defect is seen in the tumor tissue (microsatellite instability). The detection of a pathogenic mutation confirms the diagnosis in these patients and enables predictive testing for other family members. Diagnostic evaluation of Lynch syndrome should be performed with appropriate genetic counseling. Systemic colonoscopy surveillance could identify colon cancers at an earlier stage before patients present clinical symptoms. Conclusion: Although many studies have been done, but the benefits of an individualized, risk-adapted surveillance strategy are still unclear. Until this is identified, Lynch syndrome patients and healthy carriers with causative mutations should be monitored by annual colonoscopy and annual gynecological examination (for women).
similar resources
Hereditary nonpolyposis colorectal cancer: diagnostic strategies and their implications.
OBJECTIVES Hereditary Nonpolyposis Colorectal Cancer (HNPCC) has been defined clinically and genetically. The disorder has traditionally been recognized in kindreds with a clustering of related cancers in association with mutations in DNA mismatch repair genes. HNPCC is associated with a substantially increased risk for several forms of malignancy but particularly colorectal and endometrial can...
full textLynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
BACKGROUND Preventive programs for individuals who have high lifetime risks of colorectal cancer may reduce disease morbidity and mortality. Thus, it is important to identify the factors that are associated with hereditary colorectal cancer and to monitor the effects of tailored surveillance. In particular, patients with Lynch syndrome, hereditary nonpolyposis colorectal cancer (HNPCC), have an...
full textHereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome.
BACKGROUND Hereditary nonpolyposis colorectal cancer HNPCC, Lynch syndrome) is a genetic disease of autosomal dominant inheritance. It is caused by a mutation in one of four genes of the DNA mismatch repair system and confers a markedly increased risk for various types of cancer, particularly of the colon and the endometrium. Its prevalence in the general population is about 1 in 500, and it ca...
full textHereditary nonpolyposis colorectal cancer.
Hereditary nonpolyposis colorectal cancer (HNPCC), or Lynch syndrome, is the most common form of hereditary colorectal cancer (CRC). A well-orchestrated cancer family history is essential for its diagnosis since, unlike its familial adenomatous polyposis (FAP) hereditary cancer counterpart, HNPCC lacks distinguishing clinical stigmata of its cancer genetic risk. Discoveries in the 1990s of germ...
full textMLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques
Over the past two decades, 33 cases of colonic adenocarcinomas have been diagnosed in rhesus macaques (Macaca mulatta) at the nonhuman primate colony of the Keeling Center for Comparative Medicine and Research at The University of Texas MD Anderson Cancer Center. The distinctive feature in these cases, based on PET/computed tomography (CT) imaging, was the presence of two or three tumor lesions...
full textMy Resources
Journal title
volume 29 issue 2
pages 3453- 3461
publication date 2021-04
By following a journal you will be notified via email when a new issue of this journal is published.
No Keywords
Hosted on Doprax cloud platform doprax.com
copyright © 2015-2023