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
- newly diagnosed
- healthcare
- mental health
- dna methylation
- peritoneal dialysis
- pulmonary embolism
- electronic health record
- prognostic factors
- big data
- machine learning
- escherichia coli
- single cell
- gene expression
- risk assessment
- health information
- data analysis
- deep learning
- transcription factor