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Individual Co-166 was mutation screened for all fragments.
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These samples and 45 tumors from individuals carrying the BRCA2 999del5 mutation were screened for mutations in the CHK2 gene.
The semi-nested PCR products from samples without a truncating APC mutation were screened for mutations using denaturing high-pressure liquid chromatography (dHPLC) on a WAVE 3500 HT system (Transgenomic Inc., UK).
This study emphasizes the significance of mutation screening for diagnosis, risk-assessment, and mutation-site specific management in LQTS patients.
Since there was neither family history data of the patients nor germline mutation screening for MLH1 or MSH2, it is likely that some individuals with an early onset MSI CRC enrolled in this study harbored hereditary non polyposis tumors.
Because there was neither family history data of the patients nor germline mutation screening for MLH1 or MSH2, we cannot exclude the presence of hereditary non polyposis colorectal cancer in our series of tumors.
Mutation screening for BRCA1, BRCA2, PALB2, BRIP1, RAD50, and CDH1 was performed by direct sequencing.
Mutation screening for all three SNPs was performed by qPCR followed by high resolution melting analysis.
Mutation screening for BRCA1 and BRCA2 is not 100% sensitive and can vary depending on the mutation screening methods used.
Obviously, the clinical use of mutation screening for diagnostic purposes cannot be delayed until every mutation has been discovered.
Dideoxynucleotide sequencing of DNA or Sanger sequencing has been the gold standard for mutation screening for over two decades.
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