hereditary cancer syndrome
Conditions
Interventions
whole genome sequence, RNAseq
Sponsors
Department of Clinical genetics, Juntendo University, Graduate School of medicine
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Patients who undergo genetic testing 1) Aged 18 or older 2) who undergo enetic testing which is provided by laboratory testing company, but can't be reached to final diagnosis as hereditary cancer syndrome 3) who undergo enogh explaination for this study and understand the significance of the research, expressing consent by their own will. Relatives of the subject who was diagnosed as VUS of responsible gene 1) Relatives within the second degree relatives of the subject with VUS 2) Aged 18 or older 3) Who undergo enogh explaination for this study and understand the significance of the research, expressing consent by their own will.
Exclusion criteria
Exclusion criteria: 1) Final diagnosis as hereditary cancer syndrome can be reached by routine genetic testing provided by laboratory testing company. 2) Person who lack consent ability to this study including genetic testing (Representative consenter is required). 3) Person that research representative decides to be inappropriate as a subject
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The detection rate of pathogenic variant by additional analysis in cases which genetic testing provided by laboratory testing company can't detect pathogenic variant, however, hereditary cancer syndrome is suspected due to clinical findings. | — |
Countries
Japan
Contacts
Public ContactMasami Arai
Juntendo University, Graduate School of Medicine Department of Clinical Genetics
Outcome results
None listed