ABSTRACT
Purpose@#BRCA1 and BRCA2 are among the most important genes involved in DNA repair via homologous recombination (HR). Germline BRCA1/2 (gBRCA1/2)-related cancers have specific characteristics and treatment options but conducting gBRCA1/2 testing and interpreting the genetic imprint are sometimes complicated. Here, we describe the concordance of gBRCA1/2 derived from a panel of clinical tumor tissues using next-generation sequencing (NGS) and genetic aspects of tumors harboring gBRCA1/2 pathogenic variants. @*Materials and Methods@#Targeted sequencing was performed using available tumor tissue from patients who underwent gBRCA1/2 testing. Comparative genomic analysis was performed according to gBRCA1/2 pathogenicity. @*Results@#A total of 321 patients who underwent gBRCA1/2 testing were screened, and 26 patients with gBRCA1/2 pathogenic (gBRCA1/2p) variants, eight patients with gBRCA1/2 variants of uncertain significance (VUS; gBRCA1/2v), and 43 patients with gBRCA1/2 wild-type (gBRCA1/2w) were included in analysis. Mutations in TP53 (49.4%) and PIK3CA (23.4%) were frequently detected in all samples. The number of single-nucleotide variants (SNVs) per tumor tissue was higher in the gBRCA1/2w group than that in the gBRCA1/2p group (14.81 vs. 18.86, p=0.278). Tumor mutation burden (TMB) was significantly higher in the gBRCA1/2w group than in the gBRCA1/2p group (10.21 vs. 13.47, p=0.017). Except for BRCA1/2, other HR-related genes were frequently mutated in patients with gBRCA1/2w. @*Conclusion@#We demonstrated high sensitivity of gBRCA1/2 in tumors analyzed by NGS using a panel of tumor tissues. TMB value and aberration of non-BRCA1/2 HR-related genes differed significantly according to gBRCA1/2 pathogenicity in patients with breast cancer.
ABSTRACT
BACKGROUND: This study was undertaken to determine current practice for preoperative anxiety reduction in Korean children. METHODS: An email survey of all members (n = 158) of the Korean Society of Pediatric Anesthesiologists was conducted from November 2014 to January 2015 to assess current practice, preferences, and general opinions regarding pharmacological and non-pharmacological interventions performed to alleviate preoperative anxiety in children prior to general anesthesia. RESULTS: Forty-one anesthesiologists completed the survey; a response rate of 26%. Only 4.9% of respondents undertook anxiety reduction according to a written hospital policy, and 95.1% did not. Most respondents (70.7%) performed anxiolytic intervention guided by informally standardized hospital protocol. In clinical practice, 90% of respondents used pharmacological and/or non-pharmacological intervention to alleviate anxiety in children. Nearly half of the respondents (53.7%) used premedication to reduce anxiety, and midazolam was most frequently used. Parental presence during induction of anesthesia was considered the most effective non-pharmacological intervention (60.4%), and was allowed by 78% of respondents, and watching a video was considered the second most effective intervention (27.1%). CONCLUSIONS: Korean pediatric anesthesiologists use both pharmacological and non-pharmacological interventions to alleviate preoperative anxiety, and these interventions are generally guided by an informally standardized hospital protocol. Anesthesiologists requiring effective anxiety reduction prefer pharmacological intervention and most commonly use intravenous midazolam, whereas those that want safe anxiety reduction prefer non-pharmacological intervention and most frequently use parental presence during induction of anesthesia.