This is a multicenter, interventional, historico-prospective cohort pilot study aimed at specifying the phenotype of subjects carrying a constitutional familial DDX41 mutation, with a view to eventually publishing oncogenetic recommendations for carriers of this mutation. The main objective of the LUCID project is to assess the cumulative risk of hematological diseases as a function of age in DDX41 germline mutation carriers. This study will be carried out in two stages: Stage 1: Inclusion of index cases in an oncogenetic consultation (salivary test, completion of an health self-questionnaire and collection of contact details for the related cases). Stage 2: Proposition of participation to family members, by correspondence, and determination of carrier or non-carrier status of the constitutional familial DDX41 mutation (based on a salivary test). A maximum of 210 index case patients and 700 family member will be included in this study.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
OTHER
Masking
NONE
Enrollment
910
* an health questionnaire will be completed in order to gather information on the participant's medical history and lifestyle. * a saliva sample will be taken (if applicable) so that a genetic analysis can be performed.
Chu de Bordeaux
Bordeaux, France
RECRUITINGChu de Limoges
Limoges, France
RECRUITINGInstitut Paoli-Calmettes
Marseille, France
RECRUITINGChu de Montpellier
Montpellier, France
RECRUITINGIUCT-O
Toulouse, France
RECRUITINGThe time to onset of hemopathy defined as the time between the date of birth and the date of diagnosis of an hemopathy.
Time frame: 74 months after the study start date
Post-transplant relapse-free survival defined as the time between the date of transplantation and the date of all-cause relapse or death.
Time frame: 74 months after the study start date
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