Background: MUTYH-associated polyposis is an autosomal recessive disorder associated with an increased lifetime risk of colorectal cancer and a moderately increased risk of ovarian, bladder, breast, and endometrial cancers. We analyzed the carrier frequency and estimated the incidence of MUTYH-associated polyposis in East Asian and Korean populations, for which limited data were previously available. Methods: We examined 125,748 exomes from the gnomAD database, including 9,197 East Asians, and additional data from 5,305 individuals in the Korean Variant Archive and 1,722 in the Korean Reference Genome Database. All MUTYH variants were interpreted according to the American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines and the Sequence Variant Interpretation guidelines from ClinGen. Results: The global carrier frequency of MUTYH-associated polyposis was 1.29%, with Europeans (non-Finnish) having the highest frequency of 1.86% and Ashkenazi Jews the lowest at 0.06%. East Asians and Koreans had a carrier frequency of 0.35% and 0.37% and an estimated incidence of 1 in 330,409 and 1 in 293,304 in Koreans, respectively, which were substantially lower than the global average of 1 in 24,160 and the European (nonFinnish) incidence of 1 in 11,520. Conclusions This was the first study to investigate the frequency of carriers of MUTYH-associated polyposis in East Asians, including specific subgroups, utilizing gnomAD and a Korean genome database. Our data provide valuable reference information for future investigations of MUTYH-associated polyposis to understand the genetic diversity and specific variants associated with this condition in East Asian populations.

Purpose: The partner and localizer of breast cancer 2 (PALB2) mutation is a predisposition to breast cancer development. However, limited clinical data are available for the Korean population. Therefore, this study aimed to compare the characteristics and oncological outcomes of patients with PALB2-mutated and non-mutated PALB2 in Korea. Methods: A total of 1,463 breast cancer (BRCA) 1/2 mutation-negative breast cancer underwent comprehensive multigene sequencing between 2016 and 2019 at Severance Hospital, Seoul, Korea. Clinicopathological data and oncological results of PALB2 mutated patients were prospectively collected and compared with those of the non-mutated group. Results: PALB2 mutations were identified in 1.2% (17/1,463) of the patients. The median age at diagnosis was 46 (30–73) years, and the median tumor size was 1.8 (0.05–3.5) cm. All patients with PALB2 mutations had histologic grades II–III, and a triple-negative subtype was found in 23.5% (4/17); however, there were no significant differences in clinicopathological data between the groups. During the median follow-up time of 38.5 months, locoregional recurrence occurred in 4.2% (44/1,043), distant recurrence was reported in 3.0% (31/1,043), and contralateral breast cancer was diagnosed in 0.8% (9/1,043) of patients, with no significant difference observed between the groups. All-cause mortality was observed in 1.8% (19/1,028) of the non-mutated group and none in the PALB2 mutation group. However, survival analyses demonstrated no significant differences in all-cause mortality (p = 0.524) and recurrence-free survival (p = 0.319). Conclusion Clinicopathological features and oncological outcomes of PALB2 mutated breast cancer were not significantly different from those of non-mutated breast cancer in the Korean population.

Purpose: The partner and localizer of breast cancer 2 (PALB2) mutation is a predisposition to breast cancer development. However, limited clinical data are available for the Korean population. Therefore, this study aimed to compare the characteristics and oncological outcomes of patients with PALB2-mutated and non-mutated PALB2 in Korea. Methods: A total of 1,463 breast cancer (BRCA) 1/2 mutation-negative breast cancer underwent comprehensive multigene sequencing between 2016 and 2019 at Severance Hospital, Seoul, Korea. Clinicopathological data and oncological results of PALB2 mutated patients were prospectively collected and compared with those of the non-mutated group. Results: PALB2 mutations were identified in 1.2% (17/1,463) of the patients. The median age at diagnosis was 46 (30–73) years, and the median tumor size was 1.8 (0.05–3.5) cm. All patients with PALB2 mutations had histologic grades II–III, and a triple-negative subtype was found in 23.5% (4/17); however, there were no significant differences in clinicopathological data between the groups. During the median follow-up time of 38.5 months, locoregional recurrence occurred in 4.2% (44/1,043), distant recurrence was reported in 3.0% (31/1,043), and contralateral breast cancer was diagnosed in 0.8% (9/1,043) of patients, with no significant difference observed between the groups. All-cause mortality was observed in 1.8% (19/1,028) of the non-mutated group and none in the PALB2 mutation group. However, survival analyses demonstrated no significant differences in all-cause mortality (p = 0.524) and recurrence-free survival (p = 0.319). Conclusion Clinicopathological features and oncological outcomes of PALB2 mutated breast cancer were not significantly different from those of non-mutated breast cancer in the Korean population.

Purpose: The partner and localizer of breast cancer 2 (PALB2) mutation is a predisposition to breast cancer development. However, limited clinical data are available for the Korean population. Therefore, this study aimed to compare the characteristics and oncological outcomes of patients with PALB2-mutated and non-mutated PALB2 in Korea. Methods: A total of 1,463 breast cancer (BRCA) 1/2 mutation-negative breast cancer underwent comprehensive multigene sequencing between 2016 and 2019 at Severance Hospital, Seoul, Korea. Clinicopathological data and oncological results of PALB2 mutated patients were prospectively collected and compared with those of the non-mutated group. Results: PALB2 mutations were identified in 1.2% (17/1,463) of the patients. The median age at diagnosis was 46 (30–73) years, and the median tumor size was 1.8 (0.05–3.5) cm. All patients with PALB2 mutations had histologic grades II–III, and a triple-negative subtype was found in 23.5% (4/17); however, there were no significant differences in clinicopathological data between the groups. During the median follow-up time of 38.5 months, locoregional recurrence occurred in 4.2% (44/1,043), distant recurrence was reported in 3.0% (31/1,043), and contralateral breast cancer was diagnosed in 0.8% (9/1,043) of patients, with no significant difference observed between the groups. All-cause mortality was observed in 1.8% (19/1,028) of the non-mutated group and none in the PALB2 mutation group. However, survival analyses demonstrated no significant differences in all-cause mortality (p = 0.524) and recurrence-free survival (p = 0.319). Conclusion Clinicopathological features and oncological outcomes of PALB2 mutated breast cancer were not significantly different from those of non-mutated breast cancer in the Korean population.

Purpose: Sentinel lymph node biopsy (SLNB) is the standard axillary procedure in early breast cancer patients. In a randomized trial, the survival rates were not different when axillary lymph node dissection (ALND) was omitted in patients with 1 or 2 lymph node metastases who underwent breast conserving surgery. This study aimed to compare the outcomes in patients who underwent total mastectomy (TM) with 1 or 2 metastatic nodes according to the types of axillary surgery. Methods: In total, 79,058 patients registered in the Korean Breast Cancer Society database who underwent TM were included in the analysis. The inclusion criteria were history of TM and SLNB, pathologic T stage 1 or 2, clinically negative axillary lymph nodes, 1 or 2 metastatic axillary lymph nodes, no radiation therapy, and no neoadjuvant therapy. We divided the patients into the SLNB only and SLNB + ALND groups. The groups were matched by propensity scores. We retrospectively analyzed the differences in the overall survival (OS) between the 2 groups. Results: A total of 883 patients were matched in a 1:4 ratio for the SLNB only and SLNB + ALND groups in the cohort from 1999 to 2014. There were no significant differences in OS between the 2 groups (P = 0.413). Subgroup analysis revealed a significant survival benefit in the SLNB + ALND group in the T2 subgroup (P = 0.013). Conclusion OS did not differ between the 2 groups in early breast cancer patients with 1 or 2 metastatic axillary lymph nodes who underwent TM. Omission of ALND may be considered in selected patients.

Purpose: Palpability is known to be a poor prognostic factor for breast cancer. The present study analyzed the clinicopathological characteristics and outcomes of palpable and nonpalpable breast cancers using big data. Methods: Between January 2005 and May 2019, a total of 15,141 patients were enrolled. All patients were diagnosed with invasive ductal carcinomas. Patients with unclear medical records, multiple tumors, bilateral breast cancers, inflammatory breast cancers, inoperable breast cancers and distant metastasis were excluded. Patients were divided into the palpable and nonpalpable breast cancer groups based on physicians’ clinical examinations. The clinicopathological characteristics and disease-specific survivals (DSS) were analyzed. Results: Patients with palpable breast cancers were younger, had larger tumors, and higher tumor-node-metastasis stage (p<0.001) than patients with nonpalpable breast cancers. Palpable breast cancer cases had higher rates of lympho-vascular invasion, higher histologic and nuclear grades than nonpalpable breast cancer cases (p<0.001). The positive proportion of hormone receptor was higher in the nonpalpable breast cancer group than in the palpable breast cancer group, but that of human epidermal growth factor receptor 2 was higher in the palpable breast cancer group than in the nonpalpable breast cancer group (p<0.001). The Ki-67 index was higher in the palpable breast cancer group than in the nonpalpable breast cancer group (p<0.001). Total mastectomy and axillary dissection were performed more frequently in the palpable breast cancer group than in the nonpalpable breast cancer group (p<0.001). Adjuvant chemotherapy was administered more frequently in the palpable breast cancer group than in the nonpalpable breast cancer group. However, radiotherapy and hormonal therapy were performed more frequently in nonpalpable breast cancer group than in the nonpalpable breast cancer group (p<0.001). According to a multivariate analysis, younger age, lower body mass index, larger tumor size, tumor location, higher stage, higher histologic grade and higher Ki-67 index were associated with palpability (p<0.001). DSS was significantly lower in the palpable breast cancer group than in the nonpalpable breast cancer group (p<0.001). Conclusion Palpable breast cancers tend to be triple negative breast cancers and have higher histologic grade and, Ki-67 index and worse prognosis than nonpalpable breast cancers. Therefore, based on the results of the present study, treating palpable breast cancers requires careful attention.

Objective To investigate the effect of time from myocardial infarction (MI) onset to percutaneous coronary intervention (PCI) on plasma matrix metalloproteinases (MMPs) level and left ventricle (LV) remodeling in patients with acute ST-segment elevation myocardial infarction of anterior wall,and the relationship between MMPs and left ventricular remodeling.Methods All patients with anterior wall STEMI undergoing PCI were divided into early PCI group (PCI within 18 h after MI onset) and delayed PCI group (PCI between 2 and 3 weeks after MI onset).Plasma MMP-2 and MMP-9 activities were assayed on admission,and at 2 days,1 week after admission.One-year follow-up was finished after PCI.Left ventricular end-diastolic volume (LVEDV),left ventricular end-systolic volume (LVESV) and left ventricle ejection fraction (LVEF) were measured by echocardiography at baseline and one year later to elucidate the effects of time from onset to PCI on LV remodeling and the relationship between MMP-2,-9 levels and LV remodeling.Results The MMP -9 activity at 2 days after myocardial infarction was lower in early PCI group than in delayed PCI group [(46±26)μg/L vs.(66±40) μg/L,P=0.000].The changes in LVEDV and LVESV (△LVEDV and △LVESV) were lower and the change in LVEF (△LVEF) was higher in early PCI group than in delayed PCI group [(10.9±6.2) ml vs.(15.0±6.0)ml,(-1.1±5.7) ml vs.(2.9±4.6) ml,(5.5 ±4.0) ％ vs.(3.8±3.4) ％,P=0.000,0.000 and 0.015].MMP-9 had positive correlations with △LVEDV and △LVESV,and a negative correlation with △LVEF at admission and after 1-year follow-up (r=0.32,0.36 and-0.29,respectively,P=0.000,0.000 and 0.001).Conclusions MMP-9 activity at admission is correlated with LV remodeling and LV function.Early PCI can reduce MMP-9 activity and improve LV remodeling after myocardial infarction.

BACKGROUND: The aim of this study was to investigate the demographic and clinical characteristics of patients with primary frozen shoulder in a Korean population. METHODS: A total of 1,373 patients whose shoulders were diagnosed with primary frozen shoulder across 11 resident-training hospitals were reviewed retrospectively. Various demographic characteristics and clinical characteristics according to gender and presence of diabetes were evaluated. RESULTS: The average age of patients was 55.4 years. Gender proportion was 58.3% females and 41.7% males. The frozen shoulder involved the non-dominant arm in 60.7% of patients and the bilateral arms in 17.6% of patients. The average duration of symptoms was 8.9 months, and 51.3% of patients had experienced nocturnal pain. Comorbidities associated with frozen shoulder in our sample of patients included diabetes (18.7%), cardiovascular diseases (17.7%), thyroid diseases (5.4%), and cerebrovascular diseases (3.6%). The diabetic group was correlated with the following demographic and clinical characteristics: old age, involvement of the dominant arm, nocturnal pain, long duration of symptoms, and no history of trauma. Further, we found that, in males, having a frozen shoulder was significantly correlated with a history of trauma; in females, having a frozen shoulder was significantly correlated with having thyroid diseases. CONCLUSIONS: These demographic data of primary frozen shoulder in the Korean population were consistent with those of previously reported epidemiologic studies. Primary frozen shoulder with diabetes was correlated with old age, bilateral involvement, long duration of symptoms, and nocturnal pain.
Arm ; Bursitis* ; Cardiovascular Diseases ; Comorbidity ; Diabetes Mellitus ; Epidemiologic Studies ; Female ; Humans ; Male ; Retrospective Studies* ; Risk Factors ; Shoulder ; Thyroid Diseases

BACKGROUND: The aim of this study was to investigate the demographic and clinical characteristics of patients with primary frozen shoulder in a Korean population. METHODS: A total of 1,373 patients whose shoulders were diagnosed with primary frozen shoulder across 11 resident-training hospitals were reviewed retrospectively. Various demographic characteristics and clinical characteristics according to gender and presence of diabetes were evaluated. RESULTS: The average age of patients was 55.4 years. Gender proportion was 58.3% females and 41.7% males. The frozen shoulder involved the non-dominant arm in 60.7% of patients and the bilateral arms in 17.6% of patients. The average duration of symptoms was 8.9 months, and 51.3% of patients had experienced nocturnal pain. Comorbidities associated with frozen shoulder in our sample of patients included diabetes (18.7%), cardiovascular diseases (17.7%), thyroid diseases (5.4%), and cerebrovascular diseases (3.6%). The diabetic group was correlated with the following demographic and clinical characteristics: old age, involvement of the dominant arm, nocturnal pain, long duration of symptoms, and no history of trauma. Further, we found that, in males, having a frozen shoulder was significantly correlated with a history of trauma; in females, having a frozen shoulder was significantly correlated with having thyroid diseases. CONCLUSIONS: These demographic data of primary frozen shoulder in the Korean population were consistent with those of previously reported epidemiologic studies. Primary frozen shoulder with diabetes was correlated with old age, bilateral involvement, long duration of symptoms, and nocturnal pain.
Arm ; Bursitis ; Cardiovascular Diseases ; Comorbidity ; Diabetes Mellitus ; Epidemiologic Studies ; Female ; Humans ; Male ; Retrospective Studies ; Risk Factors ; Shoulder ; Thyroid Diseases

With the continually expanding enrollments in colleges and universities,the vulnerable groups among college students have also greatly increased,which must be addressed,stressed and focused by colleges and universities.This paper analyzes two major ethical social situations of this special group.Some countermeasures are also put forward in order to maintain stability in colleges and universities and strengthen the ethical and moral education for vulnerable groups among college students.