Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
 free
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
 free
 free
 
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve
Pubget Overpricing |  
lüll
Feasibility of screening for Lynch syndrome among patients with colorectal cancer Hampel H; Frankel WL; Martin E; Arnold M; Khanduja K; Kuebler P; Clendenning M; Sotamaa K; Prior T; Westman JA; Panescu J; Fix D; Lockman J; LaJeunesse J; Comeras I; de la Chapelle AJ Clin Oncol 2008[Dec]; 26 (35): 5783-8PURPOSE: Identifying individuals with Lynch syndrome (LS) is highly beneficial. However, it is unclear whether microsatellite instability (MSI) or immunohistochemistry (IHC) should be used as the screening test and whether screening should target all patients with colorectal cancer (CRC) or those in high-risk subgroups. PATIENTS AND METHODS: MSI testing and IHC for the four mismatch repair proteins was performed on 500 tumors from unselected patients with CRC. If either MSI or IHC was abnormal, complete mutation analysis for the mismatch repair genes was performed. RESULTS: Among the 500 patients, 18 patients (3.6%) had LS. All 18 patients detected with LS (100%) had MSI-high tumors; 17 (94%) of 18 patients with LS were correctly predicted by IHC. Of the 18 probands, only eight patients (44%) were diagnosed at age younger than 50 years, and only 13 patients (72%) met the revised Bethesda guidelines. When these results were added to data on 1,066 previously studied patients, the entire study cohort (N = 1,566) showed an overall prevalence of 44 of 1,566 patients (2.8%; 95% CI, 2.1% to 3.8%) for LS. For each proband, on average, three additional family members carried MMR mutations. CONCLUSION: One of every 35 patients with CRC has LS, and each has at least three relatives with LS; all of whom can benefit from increased cancer surveillance. For screening, IHC is almost equally sensitive as MSI, but IHC is more readily available and helps to direct gene testing. Limiting tumor analysis to patients who fulfill Bethesda criteria would fail to identify 28% (or one in four) cases of LS.|*Genetic Testing[MESH]|*Immunohistochemistry[MESH]|*Microsatellite Instability[MESH]|Adaptor Proteins, Signal Transducing/genetics[MESH]|Adenosine Triphosphatases/genetics[MESH]|Adult[MESH]|Aged[MESH]|Colorectal Neoplasms, Hereditary Nonpolyposis/chemistry/*diagnosis/genetics[MESH]|Colorectal Neoplasms/chemistry/*diagnosis/genetics[MESH]|DNA Methylation[MESH]|DNA Mismatch Repair/*genetics[MESH]|DNA Mutational Analysis[MESH]|DNA Repair Enzymes/analysis/*genetics[MESH]|DNA-Binding Proteins/genetics[MESH]|Feasibility Studies[MESH]|Female[MESH]|Gene Expression Regulation, Enzymologic[MESH]|Gene Expression Regulation, Neoplastic[MESH]|Humans[MESH]|Male[MESH]|Mass Screening/*methods[MESH]|Middle Aged[MESH]|Mismatch Repair Endonuclease PMS2[MESH]|MutL Protein Homolog 1[MESH]|MutS Homolog 2 Protein/genetics[MESH]|Nuclear Proteins/genetics[MESH]|Ohio[MESH]|Predictive Value of Tests[MESH]|Promoter Regions, Genetic[MESH] |
