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Background@#Structural variants (SVs) are currently analyzed using a combination of conventional methods; however, this approach has limitations. Optical genome mapping (OGM), an emerging technology for detecting SVs using a single-molecule strategy, has the potential to replace conventional methods. We compared OGM with conventional diagnostic methods for detecting SVs in various hematologic malignancies. @*Methods@#Residual bone marrow aspirates from 27 patients with hematologic malignancies in whom SVs were observed using conventional methods (chromosomal banding analysis, FISH, an RNA fusion panel, and reverse transcription PCR) were analyzed using OGM. The concordance between the OGM and conventional method results was evaluated. @*Results@#OGM showed concordance in 63% (17/27) and partial concordance in 37% (10/27) of samples. OGM detected 76% (52/68) of the total SVs correctly (concordance rate for each type of SVs: aneuploidies, 83% [15/18]; balanced translocation, 80% [12/15] unbalanced translocation, 54% [7/13] deletions, 81% [13/16]; duplications, 100% [2/2] inversion 100% [1/1]; insertion, 100% [1/1]; marker chromosome, 0% [0/1];isochromosome, 100% [1/1]). Sixteen discordant results were attributed to the involvement of centromeric/telomeric regions, detection sensitivity, and a low mapping rate and coverage. OGM identified additional SVs, including submicroscopic SVs and novel fusions, in five cases. @*Conclusions@#OGM shows a high level of concordance with conventional diagnostic methods for the detection of SVs and can identify novel variants, suggesting its potential utility in enabling more comprehensive SV analysis in routine diagnostics of hematologic malignancies, although further studies and improvements are required.
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Background@#Molecular cancer profiling may lead to appropriate trials for molecularly targeted therapies. Cell-free DNA (cfDNA) is a promising diagnostic and/or prognostic biomarker in gastric cancer (GC). We characterized somatic genomic alterations in cfDNA of patients with GC. @*Methods@#Medical records and cfDNA data of 81 patients diagnosed as having GC were reviewed. Forty-nine and 32 patients were tested using the Oncomine Pan-Cancer CellFree Assay on the Ion Torrent platform and AlphaLiquid 100 kit on the Illumina platform, respectively. @*Results@#Tier I or II alterations were detected in 64.2% (52/81) of patients. Biomarkers for potential targeted therapy were detected in 55.6% of patients (45/81), and clinical trials are underway. ERBB2 amplification is actionable and was detected in 4.9% of patients (4/81). Among biomarkers showing potential for possible targeted therapy, TP53 mutation (38.3%, 35 variants in 31 patients, 31/81) and FGFR2 amplification (6.2%, 5/81) were detected the most. @*Conclusions@#Next-generation sequencing of cfDNA is a promising technique for the molecular profiling of GC. Evidence suggests that cfDNA analysis can provide accurate and reliable information on somatic genomic alterations in patients with GC, potentially replacing tissue biopsy as a diagnostic and prognostic tool. Through cfDNA analysis for molecular profiling, it may be possible to translate the molecular classification into therapeutic targets and predictive biomarkers, leading to personalized treatment options for patients with GC in the future.
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Background@#Marfan syndrome (MFS) is caused by fibrillin-1 gene (FBN1) variants. Mutational hotspots and/or well-established critical functional domains of FBN1 include cysteine residues, calcium-binding consensus sequences, and amino acids related to interdomain packaging. Previous guidelines for variant interpretation do not reflect the features of genes or related diseases. Using the Clinical Genome Resource (ClinGen) FBN1 variant curation expert panel (VCEP), we re-evaluated FBN1 germline variants reported as variants of uncertain significance (VUSs). @*Methods@#We re-evaluated 26 VUSs in FBN1 reported in 161 patients with MFS. We checked the variants in the Human Genome Mutation Database, ClinVar, and VarSome databases and assessed their allele frequencies using the gnomAD database. Patients’ clinical information was reviewed. @*Results@#Four missense variants affecting cysteines (c.460T > C, c.1006T > C, c.5330G > C, and c.8020T > C) were reclassified as likely pathogenic and were assigned PM1_strong or PM1. Two intronic variants were reclassified as benign by granting BA1 (stand-alone). Four missense variants were reclassified as likely benign. BP5 criteria were applied in cases with an alternate molecular basis for disease, one of which (c.7231G > A) was discovered alongside a pathogenic de novo COL3A1 variant (c.1988G > T, p.Gly633Val). @*Conclusions@#Considering the high penetrance of FBN1 variants and clinical variability of MFS, the detection of pathogenic variants is important. The ClinGen FBN1 VCEP encompasses mutational hotspots and/or well-established critical functional domains and adjusts the criteria specifically for MFS; therefore, it is beneficial not only for identifying pathogenic FBN1 variants but also for distinguishing these variants from those that cause other connective tissue disorders with overlapping clinical features.
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This study evaluated the effectiveness of an obesity program developed to solve ‘obesity’, which was selected as the top priority for urgent improvement among the dietary problems of elementary school students in Busan. The program aimed to practice four health rules every day (sleep early, eat two vegetables with each meal, reduce sugary snacks, and exercise for 30 minutes every day). The participants were trained to practice the four rules online in real time every day for three weeks, and their performance in nutrition education tasks was monitored using Padlet. The anthropometric measurements showed no change in the overall average weight before and after participating in the program, but all students grew in height (z=–6.978, P＜0.001), and the number of obese students decreased significantly (z=–3.317, P＜0.001). This obesity program was effective in improving height growth and obesity in elementary school students. In terms of dietary changes, after participating in the program, the frequency of vegetable consumption increased significantly (z= –4.849, P＜0.001), the frequency of sweet snack consumption decreased significantly (z=–4.298, P＜0.001), and the bedtime improved (z=–1.000). Therefore, the non-face-to-face, self-directed obesity program developed in this study is expected to reduce the workload of nutrition teachers carrying a heavy workload such as meal service and nutrition classes, and can be used as an efficient nutrition counseling program.
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Background@#This study aimed to identify changes in counting error prevention awareness and patient safety perception through counting error prevention education to operating room nurses. @*Methods@#This was a one-group, pretest-posttest, quasi-experimental study. The participants were operating room nurses. A total of 46 nurses were recruited, and data was collected between October 1 and 31, 2022. Measures used for this study assessed counting error prevention awareness and patient safety perception. The data were analyzed using paired t-tests. @*Results@#The counting error prevention awareness of the participants increased significantly from 3.68 to 3.95 points before and after education, respectively (t=-5.07, P<0.001), while patient safety perception significantly increased from 3.95 to 4.20 points before and after training, respectively (t=-2.68, P=0.010). @*Conclusions@#Counting error prevention awareness and patient safety perception of operating room nurses prevent fatal damage to patients with surgeries and lower mortality. The results of this study suggest the necessity of various education methods to reduce medical accidents among surgical patients and to raise patient safety perception for operating room nurses.
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In this study, the authors surveyed the dietary habits of all elementary school students registered with the Busan Metropolitan City Office of Education using an online questionnaire called the Dietary Screening Test (DST). The DST consists of 36 items, and these were divided into 5 factors: life rhythm, meal quality, eating development, eating temperament characteristics, and eating habit characteristics. Data were collected from 153,017 students attending 304 schools in Busan, and the responses of 4,020 were included in the analysis.The study was undertaken to document growth and development and diagnose nutrition and dietary problems to provide basic data for the development of customized nutrition education and counseling programs. Results showed that 13.5% and 14.3% of participants were classified as overweight or required weight management for obesity, respectively; 6.7% were underweight. Additionally, 37.0% and 9.5% of children required parental attention at bedtime and sleeping hours, and 14.2% ate too quickly or too slowly. Furthermore, food group consumptions were unbalanced, 25.0% and 64.4% of participants ate grains and protein less than twice a day, respectively, and 72.3% and 74.5% ate kimchi and vegetables less than twice a day, respectively. In contrast, 28.8% of respondents consumed sweet snacks daily or 5∼6 times weekly. These findings highlight the need for a standardized school nutrition counseling manual and individually customized nutrition counseling programs to address the nutrition and dietary problems of elementary school students in Busan.
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Purpose@#Concerns about accelerated aging are regularly being discussed. This study analyzed the dietary status and nutritional intake of college students who are about to enter their 30s and 40s. We further suggest ways to eat healthily. @*Methods@#Totally, 67 students attending Daegu Catholic University were provided with a three-day meal record and analyzed. @*Results@#The average demographics of the subjects were as follows: age 23.2 ± 2.0 years, height 165.1 ± 9.0 cm, weight 65.4 ± 13.6 kg, and BMI 23.5 ± 3.9 kg/m2 . Overall, 76.3% of the subjects skipped breakfast. The food intake evaluation according to the food group intake pattern and the recommended number of servings determined that 38.3% of the subjects did not consume fruits and dairy products (GMVFDS = 111001), and both men and women lacked all food groups. Analysis of the nutrient intake state revealed lesser nutrient intake than the estimated energy need. Evaluation of the %RDA found that consumption of phosphorus was above the recommended amount, whereas all other nutrients were below the recommended amount. Men had a higher intake rate of phosphorus (p < 0.01), iron (p < 0.001), and sodium (p < 0.05) than women, whereas the intake rate of dietary fiber was higher in women (p < 0.05). Evaluation of the food intake by 22 food categories revealed that intake of regular grains was more in men than in women (p < 0.05) whereas women consumed significantly more mixed grains (p< 0.01). In protein foods, men consumed more meat (p < 0.01), while women consumed more eggs (p < 0.05) and beans (p < 0.05). Evaluating the fruit intake, juices were more frequently consumed by men than by women (p < 0.05). No differences were obtained in food intake and nutrient intake status according to obesity. @*Conclusion@#Based on these results, there is an urgent requirement for attention and support for university cafeterias in order to induce changes in the eating habits of college students. Among other initiatives, this can be achieved by providing diet improvement programs and menus that consider food preferences.
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Purpose@#Childhood obesity has become a social problem due to the social distancing necessitated by the coronavirus disease 2019 pandemic. This study aimed to identify the dietary problems of obese children through various dietary assessment methods and to confirm the usefulness of each method. @*Methods@#The subjects were 88 students in the 4th to 6th grade of elementary school who participated in the nutrition camp organised by the Busan Metropolitan Office of Education, 2020. To evaluate dietary problems and assess diet quality, 24-hour meal records, monthly food intake frequency, and Dietary Screening Test (DST) data were analyzed. @*Results@#Of the subjects, 15.7%, 30.3%, and 53.9% were normal weight, overweight, and obese, respectively. The average age was 11.77 ± 0.77 years and the average body mass index was 23.96 ± 3.01 kg/m 2 . It was observed from the 24-hour meal record method that the overweight and obese subject groups consumed fewer green vegetables (p < 0.001) and white vegetables (p < 0.01) than the normal weight group. In the monthly food intake frequency method, the consumption of ramen (p < 0.01), snacks (p < 0.05), and sausages (p < 0.05) were high in the obese group, and that of anchovies, broccoli, and sweet pumpkin was high in the normal group (p < 0.05). The comparative data from the DST revealed that the overweight and obese groups had less vegetable intake than the normal weight group (p < 0.01) and had higher intakes of dairy products, fast food, and sweet snacks (p < 0.05). @*Conclusion@#The usefulness of each method in the dietary evaluation of obese children was confirmed. To address the problem of obesity, it is necessary to evaluate the dietary problem and approach it with a customized solution tailor-made for the individual subject.
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Background@#BRCA testing is necessary for establishing a management strategy for ovarian cancer. Several BRCA testing strategies, including germline and somatic testing, are implemented in clinical practice in Korea. We aimed to comparatively evaluate their cost-effectiveness from patients’ perspective. @*Methods@#We developed a decision model comprising five BRCA testing strategies implemented in Korea: (1) germline testing first, followed by somatic tumor testing for patients without a germline variant; (2) somatic testing first, followed by germline testing for patients with a variant detected by somatic testing; (3) both germline and somatic testing; (4) germline testing alone; and (5) somatic testing alone, with no testing as the comparator. One-way sensitivity analysis was conducted to test the uncertainty of key parameters. @*Results@#Assuming a willingness-to-pay of $20,000 per progression-free life-year gain (PF-LYG), all five strategies were considered cost-effective. Strategy 4 was the most cost-effective option, with an incremental cost-effectiveness ratio (ICER) of $2,547.7 per PF-LYG, followed by strategy 1, with an ICER of $3,978.4 per PF-LYG. Even when the parameter values were varied within the possible range, the ICERs of all strategies did not exceed the willingness-to-pay threshold. @*Conclusions@#Considering the importance of knowing a patient’s BRCA gene status, germline testing first, followed by somatic testing, may be a reasonable option.
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Background@#Following success of the phase III PROfound trial, the poly (ADP-ribose) polymerase (PARP) inhibitor olaparib was approved by the US Food and Drug Administration in May 2020 for adult patients with deleterious homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer (mCRPC). As locally adopted multigene panel next-generation sequencing (NGS) assays for selecting PARP inhibitor candidates have not been thoroughly evaluated, we compared the analytical performance of the FoundationOne CDx (Foundation Medicine, Inc., Cambridge, MA, USA) (central laboratory) and other NGS assays (local laboratory) with samples from the PROfound trial in Korea. @*Methods@#One hundred PROfound samples (60 HRR mutation [HRRm] cases and 40 non-HRRm cases) were analyzed. The results of HRR gene mutation analysis were compared between the FoundationOne CDx and two other NGS assays [SureSelect Custom Design assay (Agilent Technologies, Inc., Santa Clara, CA, USA) and Oncomine Comprehensive assay (Thermo Fisher Scientific, Inc., Waltham, MA, USA)]. @*Results@#The positive percent agreement for single nucleotide variants (SNVs) and insertion/deletions (indels) between the central laboratory and local laboratory was 98.7%–100.0%. The negative percent agreement and overall percent agreement (OPA) for SNVs and indels between central and local laboratories were both 100%. Compared with that of the FoundationOne CDx assay, the OPA for copy number variations of the Oncomine Comprehensive and SureSelect Custom assays reached 99.8%–100%. Most mCRPC patients harboring a deleterious genetic variant were successfully identified with both local laboratory assays. @*Conclusions@#The NGS approach at a local laboratory showed comparable analytical performance for identifying HRRm status to the FoundationOne CDx assay used at the central laboratory.
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Background@#In non-small cell lung cancer (NSCLC), epidermal growth factor receptor (EGFR) mutation testing of tumor tissue should be conducted at diagnosis. Alternatively, circulating tumor DNA can be used to detect EGFR mutation. We compared the cost and clinical effect of three strategies according to the application of the EGFR test. @*Methods@#Decision models were developed to compare the cost-effectiveness of tissue-only, tissue-first, and plasma-first diagnostic strategies as first- and second-line treatments for NSCLC from the perspective of the Korean national healthcare payer. Progression-free survival (PFS), overall survival (OS), and direct medical costs were assessed. A one-way sensitivity analysis was performed. @*Results@#The plasma-first strategy correctly identified numerous patients in the first- and second-line treatments. This strategy also decreased the cost of biopsy procedures and complications. Compared with that when using the other two strategies, the plasma-first strategy increased PFS by 0.5 months. The plasma-first strategy increased OS by 0.9 and 1 month compared with that when using the tissue-only and tissue-first strategies, respectively. The plasma-first strategy was the least expensive first-line treatment but the most expensive second-line treatment. First-generation tyrosine kinase inhibitor and the detection rate of the T790M mutation in tissues were the most cost-influential factors. @*Conclusions@#The plasma-first strategy improved PFS and OS, allowing for a more accurate identification of candidates for targeted therapy for NSCLC and decreased biopsy- and complication-related costs.
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Purpose@#Since the coronavirus pandemic, the number of obese people has increased, and accelerated aging has been reported, particularly among young population. Therefore, this study analyzed the dietary habits of university students according to their risk of obesity to provide data for improving their eating habits. @*Methods@#Ninety students at Daegu Catholic University were surveyed for their eating habits and photo-enhanced meal intake. The obesity risk was categorized as normal if the body mass index (BMI) and percent body fat (PBF) were normal, at-risk if both indicated overweight or obese, obesity in BMI alone were analyzed as BMI group and those with obesity in percent body fat alone were analyzed as PBF group. @*Results@#There were 23 (25.5%) in the normal group, 10 (11.1%) in the BMI group, 24 (26.7%) in the PBF group and 33 (36.7%) in the at-risk group. The dietary survey showed that the risk groups had lower consumption frequencies of vegetables (p < 0.05) than the normal group, had less sleep time (p < 0.05) and higher frequency of fast food consumption (p < 0.001).The intake of vegetables was significantly higher in the normal group than in the risk group (p < 0.05). In terms of the daily nutrient intake, there was no significant difference in energy intake according to the obesity risk, but the intakes of dietary fiber (p < 0.01), vitamin A (p < 0.01), vitamin C (p < 0.01) were higher in the normal group than in the risk groups. @*Conclusion@#Therefore, it is important to consider the BMI and percent body fat together to diagnose obesity and provide nutrition education and counseling.
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This study was undertaken to analyze the growth, nutritional, and dietary risk factors of elementary school students belonging to the Busan Metropolitan City Office of Education and provide the basic data needed to develop an underweight and obesity prevention program. In 2021, BMI and Dietary Screening Test (DST) data of 4,046 children surveyed by the Nutrition Education Experience Center’s “Diagnosis System” of the Busan Regional Office of Education were analyzed. The DST consists of 36 questions about lifestyle habits, meal quality, meal regularity, snack quality, and eating behavior. Of the children included, 6.8% were underweight, 65.4% were normal weight, 13.4% were overweight, and 14.4% were obese. Children in the obesity group had shorter sleep and meal times (P＜0.001), lower vegetable and fruit consumption frequencies (P＜0.001), higher fast food consumption frequencies (P＜0.001), higher rates of skipping meals (P＜0.01) and breakfast (P＜0.001), and more frequently used smartphones and watched TV during meals (P＜0.001). The underweight group had the highest scores for all eating development factors but more frequently had chewing and swallowing difficulties (P＜0.001). The study confirms underweightedness and obesity are present different problems and indicates that nutrition teachers should conduct accurate studies on the eating habits and behaviors of obese and underweight students and provide individually tailored nutritional counseling.
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Purpose@#To investigate the effect of a mother's modeling and feeding practices on the eating behavior of the children. @*Methods@#From April to June 2018, 1,036 young children aged 2 to 6 years and their mothers in Gyeongsan, Gyeongsangbuk-do, were examined for their eating behavior and feeding practices using a verified dietary behavior test (DBT). The children's dietary behavior was classified into four categories: “access evasiveness”, “sensory acuity”, “hyperactivity”, and “irregularity”. The mother's eating behavior was classified into three categories: “pickiness”, “negligence”, and “irregularity”, and feeding practice types were classified into two categories: “responsibility/monitoring”, and “restriction/pressure”. The differences between the groups were tested using the t-test, ANOVA, and Duncan's multiple range test. The influence of feeding practices on the children's eating behavior was analyzed by hierarchical regression analysis while controlling for the mother’s modeling. @*Results@#The problem rates of irregularity, negligence and pickiness in the mother's modeling were 33.7%, 22.8%, and 20.7%, respectively. An analysis of the mother's feeding practices revealed that responsibility/monitoring had a middle, high and low significance in 74.2%, 17.3%, and 8.5% of respondents, respectively and the risk rate of restriction/pressure when guiding children to eat was 15.3%. The problem rates for sensory acuity, access evasiveness, irregularity, and hyperactivity in children were 27.9%, 26.1%, 24.8%, and 22.0%, respectively. Among the four eating behavior characteristics of children, the child's access evasiveness and sensory acuity were more affected by their pickiness rather than the mother's feeding practices, and the child's hyperactivity was more influenced by feeding practices than the mother's eating behavior. The child's irregularity was similarly affected by the mother's eating behavior and feeding practices. @*Conclusion@#Since the mother's eating behavior and feeding practices affect the children's eating behavior, a diet improvement program for children should consider not only the nutrition education of children but also the mother's eating behavior and provide the necessary intervention for feeding practices.
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Purpose@#A suboptimal nutritional status is often observed among hospitalized patients across all medical/surgical specialties. The objective of the present study was to (1) analyze the prevalence of malnutrition in severe trauma patients and (2) evaluate the relationship between malnutrition and select clinical outcomes. @*Materials and Methods@#This retrospective study was conducted between October 2015 and March 2017 at the Pusan National University Hospital Trauma Center. Of a total of 3,560 patients, 945 were enrolled in this study. Patients were checked for malnutrition using a nutrition assessment tool by the hospital nutrition support team. The parameters assessed included serum albumin, the ratio of actual body weight to ideal body weight (%), total lymphocyte count, appetite, and gastrointestinal problems. Clinical outcomes under consideration included 1) mortality, 2) length of hospitalization, and 3) length of stay in the intensive care unit (ICU). @*Results@#The total prevalence of malnutrition in hospitalized trauma patients was 55.0% (n=520). Malnutrition risk was the independent prognostic factor of mortality in severe trauma patients (adjusted odds ratio [OR]=3.440;95% confidence interval [CI]=1.401~8.447, P=0.007). Risk factors of malnutrition were age over 65 years (adjusted OR=2.393; 95% CI=1.699~3.370, P<0.001), injury severity score (adjusted OR=1.034, 95% CI=1.012~1.056, P=0.002), length of hospitalization (adjusted OR=1.104; 95% CI=1.007~1.020, P<0.001), and length of stay in the ICU (adjusted OR=1.050; 95% CI=1.029~1.072, P<0.001). @*Conclusion@#Malnutrition is widespread in hospitalized patients with severe trauma and results in suboptimal clinical outcomes. Thus, patients at high risk of malnutrition should be monitored carefully during hospitalization.
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Appropriate reference intervals of serum insulin-like growth factor I (IGF-I) is important for diagnosing and monitoring patients with growth hormone-related diseases. To establish reference intervals, adult individuals (n=1,334, 680 men and 654 women) were divided into six age groups (20–29, 30–39, 40–49, 50–59, 60–69, ≥70). Serum IGF-I was measured by chemiluminescence immunoassay (Liaison). Concordance of patient classification based on reference intervals, manufacturer’s intervals, and standard deviation score (SDS) was evaluated. New reference intervals had higher upper and lower limits than those specified by the manufacturer. The agreement between classification using new reference interval and the manufacturer’s reference interval, and that using new reference interval and SDS was 75.0% (weighted kappa, 0.17), 91.9% (weighted kappa, 0.51) in men and 91.0% (weighted kappa, 0.41), 92.5% (weighted kappa, 0.53) in women, respectively. Reference intervals should be established not only based on age and sex, but also on ethnicity and assay method.
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Appropriate reference intervals of serum insulin-like growth factor I (IGF-I) is important for diagnosing and monitoring patients with growth hormone-related diseases. To establish reference intervals, adult individuals (n=1,334, 680 men and 654 women) were divided into six age groups (20–29, 30–39, 40–49, 50–59, 60–69, ≥70). Serum IGF-I was measured by chemiluminescence immunoassay (Liaison). Concordance of patient classification based on reference intervals, manufacturer’s intervals, and standard deviation score (SDS) was evaluated. New reference intervals had higher upper and lower limits than those specified by the manufacturer. The agreement between classification using new reference interval and the manufacturer’s reference interval, and that using new reference interval and SDS was 75.0% (weighted kappa, 0.17), 91.9% (weighted kappa, 0.51) in men and 91.0% (weighted kappa, 0.41), 92.5% (weighted kappa, 0.53) in women, respectively. Reference intervals should be established not only based on age and sex, but also on ethnicity and assay method.
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Objective@#A simultaneous detection of germline and somatic mutations in ovarian cancer (OC) using tumor materials is considered to be cost-effective for BRCA1/2 testing. However, there are limited studies of the analytical performances according to various sample types. The aim of this study is to propose a strategy for routine BRCA1/2 next-generation sequencing (NGS) screening based on analytical performance according to different sample types. @*Methods@#We compared BRCA1/2 NGS screening assay using buffy coat, fresh-frozen (FF) and formalin-fixed paraffin-embedded (FFPE) from 130 samples. @*Results@#The rate of repeated tests in a total of buffy coat, FF and FFPE was 0%, 8%, and 34%, respectively. The accuracy of BRCA1/2 NGS testing was 100.0%, 99.9% and 99.9% in buffy coat, FFPE and FF, respectively. However, due to the presence of variant allele frequency (VAF) shifted heterozygous variants, tumor materials (FFPE and FF) showed lower sensitivity (95.5%–99.0%) than buffy coat (100%). Furthermore, FFPE showed 51.4% of the positive predictive value (PPV) on account of sequence artifacts. When performed in the post-filtration process, PPV was increased by approximately 20% in FFPE. Buffy coat showed 100% of sensitivity, specificity and accuracy in BRCA1/2 NGS test. @*Conclusions@#On the comparison of the analytical performance according to different sample types, the buffy coat was not affected by sequencing artifacts and VAF shifted variants. Therefore, the blood test should be given priority in detecting germline BRCA1/2 mutation, and tumor materials could be suitable to detect somatic mutations in OC patients without identifying germline BRCA1/2 mutation.