Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of CDKN2A: a case report.
Yoshimi KiyozumiHiroyuki MatsubayashiAkiko TodakaRyo AshidaSeiichiro NishimuraNobuhiro KadoSatomi HigashigawaRina HaradaEiko IshiharaYasue HoriuchiGoichi HondaHirotsugu KenmotsuMasakuni SerizawaKenichi UrakamiPublished in: Hereditary cancer in clinical practice (2024)
In current Japanese precision medicine, comprehensive genetic analysis can reveal rare genetic syndromes and offer us the opportunity to provide health management for patients and their relatives. However, gene-specific issues are raised in terms of the evaluation of a variant's pathogenicity and the extent of surveillance of the at-risk organs due to a lack of genetic and clinical data concerning CDKN2A variant carriers in Japan.
Keyphrases
- genome wide
- copy number
- public health
- end stage renal disease
- ejection fraction
- healthcare
- newly diagnosed
- chronic kidney disease
- dna methylation
- prognostic factors
- peritoneal dialysis
- mental health
- gene expression
- electronic health record
- early onset
- big data
- risk assessment
- single cell
- escherichia coli
- machine learning
- health information
- biofilm formation