In: NEOPLASMA, vol. 55, no. 6
M. Gerykova-Bujalkova - T. Krivulcik - Z. Bartosova
Detaily:
Rok, strany: 2008, 463 - 471
O článku:
Germline defects in the DNA mismatch repair genes MLH1 and MSH2 are the major cause of hereditary nonpolyposis
colon cancer (HNPCC), also called Lynch syndrome. Detection of inherited pathogenic change in their DNA sequence in
HNPCC families allows for identification of asymptomatic individuals who require appropriate medical surveillance. However,
evaluation of clinical significance of identified DNA alteration is not always straight-forward and some changes maybe
classified incorrectly depending on the method used. The aim of this review is to summarize rationale, practice and pitfalls
in the characterization of substitutions localized in the exons and outline new experimental and in silico approaches used to
determine mutation consequence. Our survey of variants identified in MLH1 and MSH2 genes which were confirmed to
cause splicing defect but often appear characterized as missense, nonsense or silent mutations in various databases and
publications as well as a list of true missense mutations may serve as a valuable aid for laboratories providing HNPCC
diagnosis.
Key words: MLH1, MSH2, HNPCC, MMR, mutation analysis, in silico assays
Ako citovať:
ISO 690:
Gerykova-Bujalkova, M., Krivulcik, T., Bartosova, Z. 2008. Novel approaches in evaluation of pathogenicity of single-base exonic
germline changes involving the mismatch repair genes MLH1 and MSH2
in diagnostics of Lynch syndrome. In NEOPLASMA, vol. 55, no.6, pp. 463-471. 0028-2685.
APA:
Gerykova-Bujalkova, M., Krivulcik, T., Bartosova, Z. (2008). Novel approaches in evaluation of pathogenicity of single-base exonic
germline changes involving the mismatch repair genes MLH1 and MSH2
in diagnostics of Lynch syndrome. NEOPLASMA, 55(6), 463-471. 0028-2685.