Somatic Mutation Panels: Time to clear their names

A 65 year old woman with a history of an ER+ PR+ HER2+ invasive ductal carcinoma of the right breast diagnosed at age 34, status-post lumpectomy/radiation/and chemotherapy presented to the Hematology Clinic with newly diagnosed chronic lymphocytic leukemia (CLL). Panel-based next generation sequencing (NGS) was conducted on the peripheral blood and revealed a TP53 (c.743G>A, p.R248Q) mutation with a variant allele fraction (VAF) of 45%. Due to anemia and constitutional symptoms, she began treatment with ibrutinib.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Tags: Review Article Source Type: research