Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.

Yoshimi KiyozumiHiroyuki MatsubayashiYasue HoriuchiSatomi HigashigawaTakuma OishiMasato AbeSumiko OhnamiKenichi UrakamiTakeshi NagashimaMasatoshi KusuharaHidehiko MiyakeKen Yamaguchi

Published in: Cancer medicine (2019)

Universal sequencing of g.MMR genes demonstrated sundry benign variants, but only a small proportion of cancer patients had pathogenic variants. Pathogenicity evaluation using the ClinVar database agreed with MSI, MMR immunohistochemistry, and BRAF sequencing.

Keyphrases

copy number
single cell
genome wide
genome wide identification
dna methylation
emergency department
staphylococcus aureus
gene expression
cystic fibrosis
oxidative stress
pseudomonas aeruginosa