In 2002, breast became the most common cancer site in Korean women. Using national breast cancer incidence data during 1993-2002, crude, age-standardized, and age-specific rates for incidence and mortality were calculated. Survival was examined for cases diagnosed during 1993-2002 and followed up to 2004. Observed survival was calculated using the life table method and relative survival using the Ederer II method. Age-standardized incidence rates in female increased from 14.5 in 1993 to 26.2 per 100,000 in 2002. Age-specific incidences showed peaks in women in their forties. Mortality rates increased from 3.7 in 1993 to 4.6 per 100,000 in 2002 and showed peaks in women in their fifties. Five-year relative survival for female breast cancer diagnosed during 1993-2002 was 82.2%. When we examined the secular trends using cases diagnosed 1993-1999 for complete 5-yr follow-up, the 5-yr relative survival increased from 75.2% in 1993 to 83.5% in 1999. The data from this study will provide valuable information to plan and evaluate actions against breast cancer including national breast cancer screening.

R esults: O f the total of 99,025 malignancies, 55,398 (55.9% ) cases were males and 43,627 (44.1% ) were fem ales. M ore than one third of cases were from the elderly (65 years old and more). The six leading primary cancer sites in the order of their relative frequency, were stomach (24.0% ), followed by the lung (16.0% ), the liver (15.4% ), the colorectum (11.6% ), the bladder (3.2% ), and the prostate (3.0% ) among males. In females, the breast (16.8% ) was the common cancer site, followed by the stomach (15.3% ), the colorectum (10.7% ), the thyroid gland (9.5% ), the cervix uteri (9.1% ), and the lung (6.6% ).C onclusion: W ith the continued increase in cancer cases especially prostate cancer among males and thyroid cancer among females, the total number of registered cancer cases in Korea continues to rapidly increase.

The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge and the tools (e.g., microarrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for further efforts to characterize the variation in the human genome. Since variation in genotype and environment are the fundamental basis to understand phenotypic variability and heritability at the population level, identifying the range of human genetic variation is crucial to the development of personalized nutrition and medicine. The Human Variome Project (HVP; http://www.humanvariomeproject.org/) was proposed initially to systematically collect mutations that cause human disease and create a cyber infrastructure to link locus specific databases (LSDB). We report here the discussions and recommendations from the 2008 HVP planning meeting held in San Feliu de Guixols, Spain, in May 2008.

Population-based survival reflect the average prognosis of unselected patients with a variety of natural histories as well as treatment patterns and are also useful for evaluating effectiveness and efficiency of cancer-directed health services in a given region. Although survival data have been reported based on hospital data, the survival data from population-based registry have been rarely reported in Korea. Based on the Korea National Cancer Incidence Database, we report the results from survival analysis for cancer patients diagnosed during 1993-2002 and followed up until 31 December 2005 at primary cancer sites. The five-year relative survival rates (RSR) were calculated using the Ederer II method. The Kaplan-Meier method was used to estimate median survival and the 95% confidence intervals. In males, the five-year RSR for all cancers was 32.5% during 1993-1997 and was 37.8% during 1998-2002. In females, the five-year RSR for all cancers was 53.7% during 1993-1997 and was 57.0% during 1998-2002. The largest improvement in survival was shown in prostate cancer in males and breast and stomach cancer in females. The median survival durations were 16.3 months in males and 81.6 months in females. This result will be useful for evaluation of cancer treatment outcomes in Korea.

ObjectiveThe objectives of the present study were to investigate the annual detection rate of patients with Moyamoya disease (MMD) and to describe the prevalence and epidemiological features of the Moyamoya patients in Korea.Materials and MethodsThe authors analyzed the epidemiological data of Korean patients taken from the National Health Insurance Corporation in Korea among Moyamoya patients who were treated from 2004 until 2008.ResultsBased on 2004 data, 2,539 MMD patients were treated in Korea and the prevalence rate was 5.2 per 100,000 people. There were 2,987 in 2005, 3,429 in 2006, 4,051 in 2007, and 4,517 cases in 2008, and the prevalence rates per 100.000 people were 6.3, 7.0, 8.6, and 9.1, for those respective years. This represents an annual increase of 15% of new cases during this period. In 2008, 466 people were newly diagnosed with MMD, representing an incidence rate of 1 per 100,000 persons. The gender ratio was 1,547 men (34%) and 2,970 women (66%). Women had a higher incidence rate than men (1.94 times). There were two age peaks: teenagers and those in their forties.ConclusionThe present study shows that the number of Moyamoya patients in Korea is increasing. This increase could partly be explained by a recent increase in newly diagnosed cases, suggesting that a more careful consideration of the disease and better diagnostic techniques should be promoted among clinicians.

Although the genetic component in the etiology of rheumatoid arthritis (RA) has been consistently suggested, many novel genetic loci remain to uncover. To identify RA risk loci, we performed a genome-wide association study (GWAS) with 100 RA cases and 600 controls using Affymetrix SNP array 5.0. The candidate risk locus (APOM gene) was re-sequenced to discover novel promoter and coding variants in a group of the subjects. Replication was performed with the independent case-control set comprising of 578 RAs and 711 controls. Through GWAS, we identified a novel SNP associated with RA at the APOM gene in the MHC class III region on 6p21.33 (rs805297, odds ratio (OR) = 2.28, P = 5.20 × 10 -7). Three more polymorphisms were identified at the promoter region of the APOM by the re-sequencing. For the replication, we genotyped the four SNP loci in the independent case-control set. The association of rs805297 identified by GWAS was successfully replicated (OR = 1.40, P = 6.65 × 10 -5). The association became more significant in the combined analysis of discovery and replication sets (OR = 1.56, P = 2.73 × 10 -10). The individuals with the rs805297 risk allele (A) at the promoter region showed a significantly lower level of APOM expression compared with those with the protective allele (C) homozygote. In the logistic regressions by the phenotype status, the homozygote risk genotype (A/A) consistently showed higher ORs than the heterozygote one (A/C) for the phenotype-positive RAs. These results indicate that APOM promoter polymorphisms are significantly associated with the susceptibility to RA.

In November 2013, the US Food and Drug Administration (FDA) sent a warning letter to 23andMe, Inc. and ordered the company to discontinue marketing of the 23andMe Personal Genome Service (PGS) until it receives FDA marketing authorization for the device. The FDA considers the PGS as an unclassified medical device, which requires premarket approval or de novo classification. Opponents of the FDA's action expressed their concerns, saying that the FDA is overcautious and paternalistic, which violates consumers' rights and might stifle the consumer genomics field itself, and insisted that the agency should not restrict direct-to-consumer (DTC) genomic testing without empirical evidence of harm. Proponents support the agency's action as protection of consumers from potentially invalid and almost useless information. This action was also significant, since it reflected the FDA's attitude towards medical application of next-generation sequencing techniques. In this review, we followed up on the FDA-23andMe incident and evaluated the problems and prospects for DTC genetic testing.

BackgroundThe full extent of chromosomal alterations and their biological implications in early breast carcinogenesis has not been well examined. In this study, we aimed to identify chromosomal alterations associated with poor prognosis in early-stage breast cancers (EBC).MethodsA total of 145 EBCs (stage I and II) were examined in this study. We analyzed copy number alterations in a discovery set of 48 EBCs using oligoarray-comparative genomic hybridization. In addition, the recurrently altered regions (RARs) associated with poor prognosis were validated using an independent set of 97 EBCs.ResultsA total of 23 RARs were defined in the discovery set. Six were commonly detected in both stage I and II groups (> 50%), suggesting their connection with early breast tumorigenesis. There were gains on 1q21.2-q21.3, 8q24.13, 8q24.13-21, 8q24.3, and 8q24.3 and a loss on 8p23.1-p22. Among the 23 RARs, copy number gains on 16p11.2 (NUPR1) and 17q12 (ERBB2) showed a significant association with poor survival (P = 0.0186 and P = 0.0186, respectively). The patients simultaneously positive for both gains had a significantly worse prognosis (P = 0.0001). In the independent replication, the patients who were double-positive for NUPR1-ERBB2 gains also had a significantly poorer prognosis on multivariate analysis (HR = 7.31, 95% CI 2.65-20.15, P = 0.0001).ConclusionsThe simultaneous gain of NUPR1 and ERBB2 can be a significant predictor of poor prognosis in EBC. Our study will help to elucidate the molecular mechanisms underlying early-stage breast cancer tumorigenesis. This study also highlights the potential for using combinations of copy number alterations as prognosis predictors for EBC.