Scientists track rare gene mutation to predict blood cancer in families

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Index cases: Inclusion Criteria: 1. Women or man aged ≥ 18 years old. 2. Personal history(s) of hemopathy or patient with hemopathy at the time of inclusion. 3. Patient with a tumor mutation of DDX41 with an allelic frequency (AF) ≥ 30% (with total depth of nucleotide position \>300x: provide tumor molecular analysis report). Special case of inclusion of deceased index cases: the DDX41 tumor mutation of interest must be accompanied by another somatic DDX41 mutation (the most frequent being p.R525H). Or patient known to be a constitutional carrier of a DDX41 mutation confirmed after oncogenetic consultation (in this case, provide constitutional analysis report). 4. Patient (or beneficiary) agreeing to release results of oncogenetic report. 5. Patient (or beneficiary) agrees to communicate the contact details of his relatives and that they may be contacted by mail to participate in the LUCID study. 6. Patient affiliated to a Social Health Insurance in France. 7. Patient able to participate and willing to give informed consent prior performance of any study-related procedures. Exclusion Criteria: 1. No history of hemopathy or no current hemopathy. 2. Patient (or beneficiary) unable to complete questionnaire for social or psychological reasons. 3. Patient who has forfeited his/her freedom by administrative or legal award or who is under legal protection (curatorship and guardianship, protection of justice). Related cases (Family member): Inclusion Criteria: 1. Women or man aged ≥ 18 years old. 2. Related to an index case included in the LUCID study. 3. Agreeing to carry out a scientific salivary test for the constitutional research of the DDX41 mutation. 4. Patient affiliated to a Social Health Insurance in France. 5. Patient able to participate and willing to give informed consent prior performance of any study-related procedures. Exclusion Criteria: 1. Not applicable from version 2 of the protocol. Related in the 4th or 5th degree to an index case included in the LUCID study. 2. Person already identified as an index case in the LUCID study. 3. Person unable to complete questionnaire for social or psychological reasons. 4. Person who has forfeited his/her freedom by administrative or legal award or who is under legal protection (curatorship and guardianship, protection of justice).