APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients.

Misato TakaoTatsuro YamaguchiHidetaka EguchiTakeshi YamadaYasushi OkazakiNaohiro TomitaTadashi NomizuTomoyuki MommaTetsuji TakayamaKohji TanakayaKiwamu AkagiHideyuki Ishida

Published in: International journal of clinical oncology (2021)

We determined the detection rate of the APC germline variant by phenotype and identified APC mosaicism. Genetic testing of FAP patients is important because it can help with surgical decision-making, monitoring, and genetic counseling. Furthermore, genetic testing by NGS proved to be an effective method of detecting APC germline variants.

Keyphrases

dna repair
end stage renal disease
decision making
newly diagnosed
copy number
chronic kidney disease
prognostic factors
genome wide
gene expression
patient reported outcomes
oxidative stress
label free
men who have sex with men