Toward a consensus in molecular diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome).
نویسندگان
چکیده
Lynch syndrome is the most common cause of inherited colorectal cancer, totaling 5 to 8% of all the cases with high susceptibility to this type of cancer and extracolonic cancer. It is related to germinal mutations taking place at mismatch repair genes. The diagnosis of Lynch syndrome is essential for both monitoring patients with this disease and detecting asymptomatic carriers, in order to establish appropriate clinical monitoring, preventive management and genetic counseling Although clinical criteria have been standardized by implementing Amsterdam I and II, as well as Bethesda guidelines, the detection rate of mutations in these genes only varies between 20% and 60%. The objective of this research was to review the state of the art regarding molecular diagnosis of Lynch syndrome; thus, a review of the literature published from 1995 to 2015 in PubMed database was performed by using the criteria “lynch syndrome molecular screening”. 19 articles were selected and reviewed, and the relevant bibliography related to such articles was also reviewed. This paper presents different approaches proposed by several researchers on molecular algorithms to improve the efficiency of Lynch syndrome diagnosis.
منابع مشابه
Hereditary Nonpolyposis Colorectal Cancer (HNPCC)/Lynch Syndrome: Surveillance and Diagnostic strategies
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...
متن کاملThe Lynch Syndrome: Melding Natural History and Molecular Genetics to Genetic Counseling and Cancer Control.
Hereditary nonpolyposis colorectal cancer (HNPCC), also referred to as Lynch syndromes I and II, is an autosomal, dominantly inherited disorder that accounts for approximately 5% of all colorectal cancers. While colorectal cancer is the most frequently occurring malignancy in HNPCC, other types of cancer occur with increased statistical significance. A better understanding of its natural histor...
متن کامل[Lynch syndrome: genetics and surgery].
Hereditary nonpolyposis colorectal cancer or Lynch Syndrome, caused by germinal mutations in mismatch deoxyribonucleic acid (DNA) repair genes, is the most common form of hereditary colorectal cancer. The identification of these individuals is not easy and is based on clinical and molecular criteria. A review is presented on the genetics and diagnosis in Lynch Syndrome, as well as on its surgic...
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ورودعنوان ژورنال:
- Journal of the National Cancer Institute
دوره 99 4 شماره
صفحات -
تاریخ انتشار 2007