Misidentification of and other mutations in cancer due to highly homologous genomic regions.

The gene has been shown to be recurrently mutated in many malignancies including in families with acute myeloid leukemia. We demonstrate that many variant calls made by exome sequencing are false positives due to misalignment to homologous regions, including a region on chr21, and can only be validated by long-range PCR. Numerous other recurrently mutated genes reported in COSMIC and TCGA databases have pseudogenes and cannot also be validated by conventional short read-based sequencing approaches.

Day One Talk: parent preferences when learning that their child has cancer.

Purpose: The discussion that occurs between a pediatric oncologist and a family when they first learn about their child's new diagnosis of cancer is known as the "Day One Talk." Few studies have addressed parent preferences when learning that their child has been diagnosed with cancer. The objective of this study is to assess what information parents of children with newly diagnosed cancer believe is important to learn during the Day One Talk.