Childhood Cancer Data Initiative (CCDI): Frameshift Mutation Profiling of Constitutional Mismatch Repair Deficiency Syndrome Patients

Samples from patients with Constitutional Mismatch Repair Deficiency Syndrome (CMMRD) were sequenced using the Archer NextSeq platform to detect frameshift mutations in cell-free DNA (cfDNA), matched tumor samples, and other tissue types. The goal of the study is to evaluate whether a frameshift mutation biomarker panel can be used for disease monitoring. Limited treatment information is included when available.

The listed genes represent those in which recurrent frameshift mutations were identified and evaluated as candidate biomarkers for disease monitoring in CMMRD.

• Study Design:
  • Case Set
• Study Type:
  • Case Set
  • Cohort
  • Sequencing
  • Tumor
• Total number of consented subjects: 8
• Subject Sample Telemetry Report (SSTR)

• BioProject
• PubMed
• MeSH
• Gene
• PMC

Inclusion Criteria:

1. Male or female
2. Any ages
3. Diagnosed CMMRD patient or carrier, or family member of CMMRD patient(s), or carrier of germline mutation(s) in one or more MMR genes (i.e., MSH2, MLH1, MSH6, and PMS2) confirmed by sequencing, or carrier of large germline deletion in the EPCAM gene confirmed by sequencing or Multiplex Ligation-dependent Probe Amplification (MLPA).

• Primary Phenotype: Turcot syndrome
• Neoplastic Syndromes, Hereditary
• DNA Mismatch Repair
• Microsatellite Instability
• Frameshift Mutation

• ASXL1
• JPH4
• CCDC73
• TAF1B
• RFC3
• GBP3
• SLC35F5
• PARP14
• CEP290
• KNOP1
• more ...

• Principal Investigator
  • Yurong Song. Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
• Co-Investigator
  • Robert H. Shoemaker. Division of Cancer Prevention at National Cancer Institute, Bethesda, Maryland, USA.
• Sequencing Centers
  • Ryan N. Baugher. Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
  • Todd B. Young. Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
• Research Methods
  • Brandon Somerville. Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
• Scientific Project Manager
  • Yuriko Mori. Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
• Collaborators
  • Kim E. Nichols. St. Jude Children’s Research Hospital, Memphis, Tennessee, USA.
  • Suzanne P. MacFarland. Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Garret M. Brodeur. Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • William D. Foulkes. McGill University, Montreal, Quebec, Canada.