Individuals are invited to participate in this study if they have a suspected DICER1-related tumor, and/or have been identified to carry a DICER1 germline mutation. Clinical DICER1 germline genetic testing and genetic counseling can typically be organized through a referral to a local Cancer Genetics service. Individuals who are found to carry germline DICER1 mutations are eligible for our research study. Alternatively, we offer research genetic testing for the DICER1 gene at no cost through our coordinating site’s laboratory in Montreal. Individuals who consent to participate in this study will provide a sample from which germline DNA can be extracted (saliva or blood). Saliva kits can be sent by our team to the consulting physician or directly to the participant’s home. These can be returned once filled using regular mail with provided pre-addressed and pre-paid envelopes. DNA will be extracted at the coordinating site and DICER1 mutation screening will be performed. Signed consent forms (provided by our group upon request) must be returned to our research group for all study participants.
A database containing anonymized patient information and an inventory of samples available for research will be accessible via the “DICER1 Database” tab to users with login credentials, which can be requested here.
We are eager to receive samples from patients who you suspect may carry a DICER1 mutation or who have a confirmed DICER1 mutation. Please click on enrollment below and fill out the form. One of our staff members will contact you within 2-3 business days with further instructions. Read our shipping instructions section for more information about sending your samples. The sample requirements section contains more information relevant to the specimen.
**Please note that we will pay all shipping costs**
- Source of germline DNA: Saliva collection kits can be provided to participants, to be used to provide a germline DNA sample.
- Alternatively, we would accept 2 x 5 mL of blood collected in EDTA (purple top) tubes (shipped at room temperature or on ice packs), or previously extracted germline DNA. For the latter, we would require approximately 1 microgram of DNA in a minimum volume of 10 microlitres.
- Tumor tissue: The following is the order of priority:
- Frozen tissue: Tissue should be cryo-preserved immediately upon collection using a solution containing 10% DMSO (dimethyl sulfoxide) and 10% FBS (fetal bovine serum). We can provide reagents free of charge if they are not easily obtainable at your institution. Frozen tissue should be shipped on dry ice overnight to our Montreal site, where tissues will be banked until needed. For circumstances in which cryo-preservation is not possible, snap-frozen tissue with liquid nitrogen will be accepted, shipped on dry ice.
- Formalin-Fixed, Paraffin-Embedded (FFPE) tumor block(s).
- FFPE slides: If a full tumor block is not available to be sent, we request at minimum 10 unstained slides at 10 microns, and 5 unstained slides at 4 microns (and an accompanying haematoxylin and eosin-stained slide, if available).
- Blood LCLs: Blood collected in 2 x ACD tubes (yellow top) should be shipped overnight at room temperature by FedEx.
If you are shipping samples at room temperature from an institution in Canada, click here.
If you are shipping samples at room temperature from an institution outside of Canada, click here.
If you are shipping samples on dry ice from Canada or from outside of Canada, please contact firstname.lastname@example.org for detailed shipping instructions and assistance with coordination.
PLEASE NOTE: In order to ensure that we receive your samples in a timely manner, and to foresee any problems with the shipment that may occur, we require the tracking number of the package so that we can track it to Montreal, QC and avoid unnecessary delays.
- Please contact email@example.com for copies of the consent form for this study.