Clinical Impact of Somatic Variants in Homologous RecombinationRepair-Related Genes in Ovarian High-Grade Serous Carcinoma / Journal of the Korean Cancer Association, 대한암학회지

Purpose@#In this study, we investigated the frequencies of mutations in DNA damage repair genesincluding BRCA1, BRCA2, homologous recombination genes and TP53 gene in ovarian highgradeserous carcinoma, alongside those of germline and somatic BRCA mutations, withthe aim of improving the identification of patients suitable for treatment with poly(ADPribose)polymerase inhibitors. @*Materials and Methods@#Tissue samples from 77 Korean patients with ovarian high-grade serous carcinoma weresubjected to next-generation sequencing. Pathogenic alterations of 38 DNA damage repairgenes and TP53 gene and their relationships with patient survival were examined. Additionally,we analyzed BRCA germline variants in blood samples from 47 of the patients forcomparison. @*Results@#BRCA1, BRCA2, and TP53 mutations were detected in 28.6%, 5.2%, and 80.5% of the 77patients, respectively. Alterations in RAD50, ATR, MSH6, MSH2, and FANCA were also identified.At least one mutation in a DNA damage repair gene was detected in 40.3% of patients(31/77). Germline and somatic BRCA mutations were found in 20 of 47 patients (42.6%),and four patients had only somatic mutations without germline mutations (8.5%, 4/47).Patients with DNA damage repair gene alterations with or without TP53mutation, exhibitedbetter disease-free survival than those with TP53 mutation alone. @*Conclusion@#DNA damage repair genes were mutated in 40.3% of patients with high-grade serous carcinoma,with somatic BRCAmutations in the absence of germline mutation in 8.5%. Somaticvariant examination, along with germline testing of DNA damage repair genes, has potentialto detect additional candidates for PARP inhibitor treatment.

Erratum: Seasonal Cycle and Relationship of Seasonal Rhino- and Influenza Virus Epidemics With Episodes of Asthma Exacerbation in Different Age Groups

This erratum is being published to correct the printing error on page 517 of the article. Corrections for Fig. 1 and main text in page 519 are needed. The authors apologize for any inconvenience that this may have caused.

Seasonal Cycle and Relationship of Seasonal Rhino- and Influenza Virus Epidemics With Episodes of Asthma Exacerbation in Different Age Groups

PURPOSE: Seasonal variations in asthma exacerbation (AE) are associated with respiratory virus outbreaks and the return of children to school after vacation. This study aims to elucidate the period, phase, and amplitude of seasonal cycles of AE in 5 different age groups with regard to rhino- and influenza virus epidemics in Korea. METHODS: The number of daily emergency department (ED) visits for AE in all age groups of Korea and the nationwide weekly incidence of rhino- and influenza virus, were obtained for 2008-2012. Fourier regression was used to model rhythmicity, and the Cosinor method was used to determine the amplitude and phase of the cycles in each age group. The cross-correlation function (CCF) between AE and the rhino- and influenza virus epidemics was also calculated. RESULTS: There were 157,559 events of AE (0.62 events/1,000 individuals/year) during the study period. There were spring and fall peaks of AE in children and adults, but only 1 winter peak in the elderly. The amplitude of the AE peak in infants was higher in spring than in fall (9.16 vs 3.04, P<0.010), and the fall peak was approximately 1 month later in infants than in school children (October 11 vs November 13, P<0.010). The association between AE and rhinovirus was greatest in school children (rho=0.331), and the association between AE and influenza virus was greatest in those aged ≥60 years (rho=0.682). CONCLUSIONS: The rhythmicity, amplitude, and phase of the annual cycle of AE differed among different age groups. The patterns of AE were related to the annual rhino- and influenza virus epidemics.

Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos

Asian populations contain a variety of ethnic groups that have ethnically specific genetic differences. Ethnic variants may be highly relevant in disease and human differentiation studies. Here, we identified ethnically specific variants and then investigated their distribution across Asian ethnic groups. We obtained 58,960 Pan-Asian single nucleotide polymorphisms of 1,953 individuals from 72 ethnic groups of 11 Asian countries. We selected 9,306 ethnic variant single nucleotide polymorphisms (ESNPs) and 5,167 ethnic variant copy number polymorphisms (ECNPs) using the nearest shrunken centroid method. We analyzed ESNPs and ECNPs in 3 hierarchical levels: superpopulation, subpopulation, and ethnic population. We also identified ESNP- and ECNP-related genes and their features. This study represents the first attempt to identify Asian ESNP and ECNP markers, which can be used to identify genetic differences and predict disease susceptibility and drug effectiveness in Asian ethnic populations.

Classification of Human Papillomavirus (HPV) Risk Type via Text Mining

Human Papillomavirus (HPV) infection is known as the main factor for cervical cancer which is a leading cause of cancer deaths in women worldwide. Because there are more than 100 types in HPV, it is critical to discriminate the HPVs related with cervical cancer from those not related with it. In this paper, the risk type of HPVs using their textual explanation. The important issue in this problem is to distinguish false negatives from false positives. That is, we must find high-risk HPVs as many as possible though we may miss some low-risk HPVs. For this purpose, the AdaCost, a cost-sensitive learner is adopted to consider different costs between training examples. The experimental results on the HPV sequence database show that the consideration of costs gives higher performance. The improvement in F-score is higher than that of the accuracy, which implies that the number of high-risk HPVs found is increased.