Disease-Specific Gene Lists Working Group
Working Group Charter
Creation and Maintenance of Disease-Specific Gene Lists to Aid in Cancer Genome Interpretation
Work Product Category
Manuscript or Publication: Defining Protocol
Specific Aims for the Work Product
Defining a protocol for gene list creation and review
for genomic interpretation.
Genomic interpretive guides such as disease-specific gene lists have significantly decreased the amount of time required for interpreting complex cancer genomes by chromosomal microarray and other tests with broad genomic/transcriptomic coverage. Efficient bioinformatic workflows have allowed laboratories to scale up testing by streamlining analysis and variant interpretation. Publicly available resources have the greatest potential to benefit the laboratory community as a whole and could also improve consistency of variant interpretation between different laboratories performing oncology genetic testing. The utility of a publicly available gene list resource depends upon high quality curation that is maintained and updated over time. This manuscript will describe a process for creating and maintaining disease-specific gene lists, collaboratively developed by the Mayo Clinic Genomics of Oncology Annotation Team (GOAT) and the following CGC entities: CGC Education Committee, Breast Cancer Working Group, and Myeloid Malignancy Working Group. We will also outline a standardized approach to determine association of genes with individual tumor types, and define the evidence needed to support the role of individual genes in pathogenesis of specific neoplasms.
Resources developed using this protocol can be expected to contain information for each gene in a disease-specific context; including types of variants present within each gene, mechanism of pathogenicity, PMID references, and helpful interpretive comments regarding the clinical significance of gene alterations.
Working Group Members
Beth Pitel
Mayo Clinic
Xinjie Xu
Mayo Clinic
Hui Chen
MD Anderson Cancer Center
Katherine Geiersbach
Mayo Clinic
Patricia Greipp
Mayo Clinic
Jennelle C. Hodge
Indiana University
Xiaolin Hu
GeneDx
Anwar Iqbal
University of Rochester Medical Center
Rashmi Kanagal-Shamanna
MD Anderson Cancer Center
Gordana Raca
Children's Hospital Los Angeles
Deborah Ritter
Baylor College of Medicine
Shashirekha Shetty
UHCMC/Case Western Reserve Unviersity
Francesc Sole
Josep Carreras Leukaemia Research Institute
Madina Sukhanova
Northwestern University Feinberg School of Medicine
Tracy Tucker
Cancer Genetics & Genomics Laboratory, British Columbia Cancer
Ashwini Yenamandra
Vanderbilt University Medical Center
Xinjie XU
Mayo Clinic