#SKResearch developed novel strategies to help diagnose and treat rare #cancer syndrome #CMMRD . 🧬

In The Lancet Oncology, Dr. Uri Tabori and Dr. Anirban Das show that inherited gene variations determine type and severity of the condition.

Read ➡️ bit.ly/3W55mOa

Congratulations to our PhD candidate Ayse B Ercan! We are so proud to announce Ayse and the team's newest publication defining the landscape of CMMRD in The Lancet Oncology 🎉 Read with our 50-day free access link here: authors.elsevier.com/c/1iq635EIIgPd…

Incredible work by the team in describing the clinical features, cancer spectrum, and biology of CMMRD. Check it out!

Constitutional mismatch repair deficiency syndrome

👉Cumulative cancer incidence 90% by age 18
👉51% CNS, 22% GI, 18% haem
👉10 y survival: CNS 39%, GI 89%, haem 67%
👉Specific gene variants affected disease phenotype, outcome

thelancet.com/journals/lanon…

OncoAlert #GITwitter

NOW OF

An International Replication Repair Deficiency Consortium cohort study aims to describe the clinical spectrum, cancer biology, and impact of genetics on patient survival in constitutional mismatch repair deficiency.

thelancet.com/journals/lanon…

The International Replication Repair Deficiency Consortium is happy to share our newest report published in Cancer Discovery. Congratulations to Dr. Das, PhD student Nick Fernandez, and team on the fantastic work! Read here: aacrjournals.org/cancerdiscover…

Original Article: Dabrafenib plus Trametinib in Pediatric Glioma with BRAF V600 Mutations nej.md/3Rq4T6Q

#oncology

Congratulations to our PhD student, Ayse B Ercan, on her newest paper, 'The Clinical and Biological Landscape of Constitutional Mismatch Repair Deficiency: An IRRDC Study'👏🎉View the preprint here: ssrn.com/abstract=45552…

The International RRD Consortium proudly hosts our third educational series on February 15th at 1:30 PM EST. Join us for two exciting clinical updates and a panel discussion addressing frequently asked questions. All are welcome! Register here: eventbrite.ca/e/cmmrd-educat…

Hypermutation and microsatellite burden determine responses & long-term survival following PD-1 blockade in children and young adults with refractory cancers resulting from germline DNA replication repair deficiency Uri Tabori #Immunotherapy #Glioblastoma
nature.com/articles/s4159…

Nut allergies can be a source of worry, especially around #Halloween . Check out Layla’s story about her participation in a study, supervised by Dr. Julia Upton & the SickKids Food Allergy & Anaphylaxis Program team, which aims to take the fear out of food. instagram.com/p/CVngKxxr_RQ/

Surveillance has a marked survival benefit for those w/ #CMMRD , making surveillance adherence critical. Perhaps behavioral providers can play a role in promoting patient adherence #ThisIsHealthPsych #ThisIsPedsPsych

Survival benefit for individuals with constitutional mismatch repair deficiency undergoing surveillance fal.cn/3fp90 #CMMRD #JCO Uri Tabori The Hospital for Sick Children (SickKids)

Just published: latest manuscript from The Replication Repair Deficiency Consortium (IRRDC) ASCO Publications. 'Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance.' Open access. Thread ⤵️ ascopubs.org/doi/full/10.12…

Presentation by the excellent Ayse B Ercan from our group discussing the survival benefit of surveillance in individuals with constitutional mismatch repair deficiency syndrome #CMMRD . #SIOP20 #SIOP20 20

Ayse and Vanessa are our clinical sample managers and incredibly important members of the research team. They work with physicians and patients in our network to coordinate the donation of patient samples for our research and biobank. #WorldCancerDay #WorldCancerDay 2020