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The International BMMRD Consortium

Refer a patient

Dear Colleagues, welcome to the Consortium and thank you for contacting us!

We will be happy to answer any of your questions regarding the diagnosis, management and surveillance of the patients with BMMRD as well as to guide you through the process of enrolling your patient to the Consortium.

There are several steps to enroll you patient to the consortium:

  1. Please contact us at BBMRD@Sickkids.ca or Melissa Edwards at melissa.edwards@sickkids.ca to get the copies of the consent forms and ROI.
  2. Tissue requirements
    After obtaining consents from the patient you wish to register with the Consortium we are asking for:
    1. Blood sample from the patient and each of the consented family members to test for the germline mutation and to establish the lymphoblast line for the functional assay.
      The blood collection kit, which includes specific tubes, will be sent to you. Please refer to the protocol for blood collection and shipping.
    2. Tumor tissue from any tumor which is available – for whole exome sequencing and determining the mutation load:
      • Fresh frozen tumor.
        This is preferable for sequencing and RNA analysis. If fresh frozen is not available, FFPE block or 30 shavings of 10 micron can be used to attempt sequencing.
      • Importantly, FFPE block or 15 unstained slides in addition to the sample required for sequencing should be sent for immunostaining which include MMR specific markers and immune markers for potential future therapy.
    3. Any polyp and normal tissue if available are welcome. These tissues will be used in research setting to further understand the difference in the tumor mutational burden and other aspects.
      Tissue format: fresh frozen tumor (preferred) or FFPE (as in 2 above).
    4. If skin biopsy is done, attempting to establish the fibroblast cell line is highly encouraged.
    5. Tissue samples from any subsequent surgeries will be highly beneficial.  Tissue format: fresh frozen tumor (preferred) or FFPE (as in 2 above).

Please refer to the shipping checklist for shipping the tissues.

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