Breast Cancer Working Group
Working Group Charter
Clinical Utility of Genome Wide Copy Number Analysis for Breast Cancer: A Consensus Statement from the Cancer Genomics Consortium
Work Product Category
Manuscript or Publication: Statement of Clinical Utility/Review of genetic/genomic abnormalities and their clinical significance
Specific Aims for the Work Product
Serve as a resource for clinically relevant (actionable) genomic abnormalities in breast cancer, focusing on abnormalities with greatest implications for diagnosis, treatment, and prognosis
Develop and disseminate educational materials for the Cancer Genomics Consortium
Provide a forum for ongoing discourse on the importance of genomic methods for investigating breast cancers; hypothesis generation; identify gaps in the literature to address in future manuscripts, web presentations, conferences
Current DNA based copy number analysis of breast cancer in the clinical laboratory is largely limited to in situ hybridization (ISH) assays for detection of HER2 (ERBB2) amplification; these assays are performed according to guidelines from a joint ASCO/CAP expert panel (Wolff, Hammond et al. 2007; Wolff, Hammond et al. 2013). In addition to standard biomarker testing (ER, PR, HER2, Ki-67/ proliferation index), commercial RNA expression assays are currently employed in the clinical setting for a subset of patients with early stage breast cancer to determine the risk of recurrence. Early genomic studies used RNA expression profiling to define distinct intrinsic subtypes of breast cancer (Perou, Sorlie et al. 2000), forming the basis for the commercial genomic assays (OncoType Dx, Prosigna, and others) in use today. In the past five years, genomic studies of very large breast cancer cohorts have indicated a broader landscape of DNA copy number changes in breast cancer, further refining the molecular subgroups and prognostic implications of genomic abnormalities (Cancer Genome Atlas 2012; Curtis, Shah et al. 2012; Pereira, Chin et al. 2016). However, a relatively limited repertoire of DNA based genomic assays is available for clinical testing of breast cancer samples, even though it is well recognized that breast cancer is primarily driven by copy number changes at the DNA level. Filling the gap between basic science and clinical practice will require building a framework for genome wide copy number analysis of breast cancers in the clinical laboratory setting.
Working Group Members
Hui Chen
University of Texas
MD Anderson Cancer Center
Katherine Geiersbach
Mayo Clinic
Constance Albarracin
University of Texas MD Anderson Cancer Center
Evin Gulbahce
University of Utah
Emilie Lalonde
London Health Sciences Center
Jun Liao
Columbia University Irving Medical Center
Yajuan J. Liu
University of Washington School of Medicine
Morteza Seifi
University of Wisconsin
Patricija Zot
Mayo Clinic
Adam Smith
University Health Network