DIPG International Prevalence of Germline Mutations (DIPG-M)

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mark pinese

Mark Pinese

Children's Cancer Institute
Sydney, Australia


About this


Diffuse intrinsic pontine gliomas and diffuse midline glioma are rare and hard to treat pediatric brain cancers. Research efforts must focus on better understanding these diseases. In this project, researchers will analyze genetic information about DIPG and DMG. They will look for germline variants, or variations of DNA, that are associated with both tumor types. The identification of such variants in childhood cancer is important not only for the assessment of patients but for the assessment of risk in family members as well. This study will address the current lack of knowledge related to germline risks in DIPG and DMG. This work has the potential to help make this type of risk assessment a standard practice in pediatric care. Researchers need data from cases that match specific criteria, patients with a diagnosis of DIPG or DMG including those with the H3K27M or other specific DNA variations. The large sample numbers made available through CBTN will be crucial to the success of this project, paving the way for new advances in the care of DIPG and DMG.

Ask The


Ask the scientists

What are the goals of this project?

The aims of this project involve gaining a better understanding of DIPG and DMG tumor variations and how that information could be used to inform treatment.

What is the impact of this project?

Understanding the germline variants present in these tumors could enhance the standard practice of care for patients fighting these diseases.

Why is the CBTN request important to this project?

Researchers need high quality samples to complete this work, samples made accessible through CBTN.

Explore the data in these informatics portals


Meet The


Mark Pinese, Mark Cowley, Mariz Wong-Erasmus, Marie Ganthier