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. METHODS: In this cross-sectional study, a survey tool based on expert opinion was created to assess parents' views of components of the Day One Talk including its content, length, and setting, as well as whether the child should be present for the initial talk and which staff should be present for the talk. RESULTS: Sixty-two parents of children with newly diagnosed cancer participated. Ninety-seven percent believed that the Day One Talk is extremely important. Ninety percent believed that the word "cancer" should be used during the Day One Talk. Seventy-seven percent believed that the pediatric oncologist should provide specific numbers regarding cure rates for the patient's diagnosis. Eighty-four percent of parents do not believe that children younger than 14 should be present. CONCLUSIONS: These results suggest that parents of children with cancer have certain preferences regarding the Day One Talk. When conducting the Day One Talk, providers should elicit parent preferences regarding these issues in order to best meet families' needs.

Misidentification of MLL3 and other mutations in cancer due to highly homologous genomic regions.

The MLL3 gene has been shown to be recurrently mutated in many malignancies including in families with acute myeloid leukemia. We demonstrate that many MLL3 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. Genome-wide identification of pseudogene regions demonstrates that frequency of these homologous regions is increased with sequencing read lengths below 200 bps. To enable identification of poor quality sequencing variants in prospective studies, we generated novel genome-wide maps of regions with poor mappability that can be used in variant calling algorithms. Taken together, our findings reveal that pseudogene regions are a source of false-positive mutations in cancers.