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Objective: Although breast magnetic resonance imaging (MRI) is a valuable screening tool, breast MRI testing burden was associated with cancer worry and quality of life. We aimed to develop and validate the MRI-related distress scale (MRI-DS) to assess comprehensive distress specifically related to breast MRI., Methods: We enrolled women aged above 18 years, diagnosed breast cancer, had MRI examination at least one time, and who could speak and read Korean in phase I and enrolled women aged above 18 years, visited outpatient clinic of breast general surgery, had undergone MRI examination at least once, and could speak and read Korean in phase II. We excluded patients who had any physical or psychiatric conditions in both phases. We recruited from a tertiary university-based hospital in South Korea between April and August 2023., Results: All 18 items had acceptable levels of item correlation (≥0.30) in the explanatory factor analysis with a four-factor solution. The fit indices for the four-factor solution model were good. The discriminant validity of the MRI-DS had a moderate correlation with general anxiety or quality of life. In the known-group analysis, those who reported MRI as the most burden breast examination had higher total scores., Conclusion: The validity of the MRI-DS has been confirmed as a scale for measuring the specific distress caused by breast MRI. The MRI-DS is recommended to health professional to communicate with patients with MRI., Clinical Implications: It can be used to assess the distress associated with MRI screening in breast cancer patients. Physician could use MRI-DS to discuss the reasons for distress caused by breast MRI screening and to address specific sources of discomfort associated with it., (© 2024 The Author(s). Cancer Medicine published by John Wiley & Sons Ltd.)

Purpose: This study aimed to evaluate the incidence and prognosis of second non-breast primary cancer (SNBPC) among Korean survivors of breast cancer., Materials and Methods: Data from the Korean National Health Insurance Service were searched to identify women who received curative surgery for initial breast cancer (IBC) between 2003 and 2008 (n=64,340). Among them, patients with the following characteristics were excluded: other cancer diagnosis before IBC (n=10,866), radiotherapy before IBC (n=349), absence of data on sex or age (n=371), or male (n=248). Accordingly, data of 52,506 women until December 2017 were analyzed. SNBPC was defined as a newly diagnosed SNBPC that occurred 5 years or more after IBC diagnosis., Results: The median follow-up time of all patients was 12.13 years. SNBPC was developed in 3,084 (5.87%) women after a median of 7.61 years following IBC diagnosis. The 10-year incidence of SNBPC was 5.78% (95% confidence interval [CI], 5.56 to 6.00). Higher SNBPC incidence was found in survivors with the following factors: old age at IBC diagnosis, low household income, and receiving combined chemotherapy with endocrine therapy, whereas receiving radiotherapy was related to a lower incidence of SNBPC (hazard ratio, 0.89; p < 0.01). Among the patients with SNBPC, the 5-year survival rate was 62.28% (95% CI, 65.53 to 69.02)., Conclusion: Approximately 5% of breast cancer survivors developed SNBPC within 10 years after IBC diagnosis. The risk of SNBPC was associated with patient's age at IBC diagnosis, income level, and a receipt of systemic treatments.

Purpose: Little is known about the impact of financial toxicity in disease-free breast cancer survivors. We aim to validate the COmprehensive Score for financial Toxicity in Korean (COST-K) and evaluate financial toxicity among disease-free breast cancer survivors., Materials and Methods: We conducted linguistic validation following a standardized methodology recommended by Functional Assessment of Chronic Illness Therapy multilingual translation (FACITtrans). For psychometric validation, we conducted a cross-sectional survey with 4,297 disease-free breast cancer survivors at a tertiary hospital in Seoul, Korea between November 2018 and April 2019. Survivors were asked to complete the COST-K and European Organization for Research and Treatment of Cancer Quality of Life Core 30 (EORTC QLQ-C30) questionnaires. The test-retest reliability, internal consistency, and validity of the COST-K were assessed using standard scale construction techniques., Results: The COST-K demonstrated good internal consistency, with a Cronbach's α of 0.81. The test-retest analysis revealed an intraclass correlation coefficient of 0.78. The COST-K had moderate correlation (r=-0.60) with the financial difficulty item of the EORTC QLQ-C30 and week correlation with the items on acute and chronic symptom burdens (nausea/vomiting, -0.18; constipation, -0.14; diarrhea, -0.14), showing good convergent and divergent validity. The median COST-K was 27 (range, 0 to 44; mean±standard deivation [SD], 27.1±7.5) and about 30% and 5% of cancer survivors experienced mild and severe financial toxicity, respectively. Younger age, lower education, lower household income was associated with higher financial toxicity., Conclusion: The COST-K is a valid and reliable instrument for measuring financial toxicity in disease-free breast cancer survivors. Considering its impact on the health-related quality of life, more studies need to be conducted to evaluate financial toxicity in cancer survivors and design interventions.

Due to the rarity of primary angiosarcoma of the breast, optimal management is based on expert opinion. The aim of this study was to review all primary angiosarcomas of the breast obtained from a single center in terms of clinicopathologic characteristics, treatment, and survival outcomes. From 1997 to 2020, 15 patients with primary angiosarcoma of the breast underwent either mastectomy or wide excision. We analyzed the clinicopathologic data to assess disease-free survival and overall survival. Fifteen women with primary angiosarcoma of the breast were identified. The mean age at diagnosis was 33 years (range: 14-63 years). The overall mean tumor size was 7.7 cm (range 3.5-20 cm). Upon histological grading, there were three cases of low grade, five intermediate grade, six high grade, and one unidentified grade. The five-year disease-free survival rate was 24.4%, and the five-year survival rate was 37.2%. The survival rate of the low-grade patient group was statistically higher than that of the intermediate- or high-grade patient groups ( p = 0.024). Primary angiosarcoma of the breast is a rare aggressive tumor characterized by high grade and poor outcome. Histologic grade appears to be a reliable predictor of survival. There are no standard treatment guidelines; thus, optimal R0 surgical resection remains the best approach. The roles of neoadjuvant, adjuvant chemotherapy, and radiotherapy remain unclear.

Several studies have suggested that estrogens have a protective function against lymphomagenesis. The treatment of breast cancer is driven by subtype classification, and the assessment of hormone receptor status is important for treatment selection. Thus, we evaluated the association between breast cancer and the incidence of NHL. We conducted a retrospective cohort study using a population-based nationwide registry in South Korea. We selected all women with newly diagnosed breast cancer between January 1st, 2002 and December 31st, 2016 who received curative treatment (N = 84,969) and a 1:10 sample of age-matched non-breast cancer controls (N = 1,057,674). Incident breast cancer (time-varying exposure) was the exposure and development of any type of NHL, including diffuse large B-cell lymphoma (DLBCL), follicular lymphoma (FL), mature T/NK-cell lymphomas, anaplastic large cell lymphoma (ALCL), and unspecified types of NHL, was the outcome. During follow-up, 1564 incident cases of NHL occurred. The fully adjusted Hazard Ratio (HR) for NHL associated with the development of breast cancer was 1.64 (95% CI = 1.34-2.00) after adjusting for body mass index, alcohol intake, physical activity, smoking, income, and comorbidity. The adjusted HR for NHL was much higher in participants who were aged <50 years and who received hormone therapy (either tamoxifen or aromatase inhibitors) than in those ≥50 years or who did not receive hormone therapy, respectively. The development of breast cancer was associated with a significantly increased risk of NHL, particularly follicular lymphoma and mature T/NK-cell lymphoma. In particular, the risk of NHL was higher in patients receiving hormone therapy and in younger patients., (© 2021. The Author(s).)

Purpose: To determine prevalence, clinicopathological characteristics, initial treatments, and outcomes associated with low estrogen receptor (ER)-expressing invasive breast cancer., Methods: This retrospective, non-interventional database study included patients undergoing surgery with curative intent for invasive ductal or lobular breast cancer. Patients were treated between January 2003-December 2012. Demographics, clinicopathological characteristics, initial treatments, and outcomes were abstracted from patient records. Patients were categorized using immunohistochemistry to determine ER, progesterone receptor, and human epidermal growth factor receptor 2 (HER2) levels. ER-positive patients were subclassified as ER-low (1% to 10%) and ER-high (> 10%) according to the Allred Proportion Score. Disease-free survival (DFS) and overall survival (OS) were estimated by the Kaplan-Meier method and compared among groups by log-rank test., Results: 5930 patients were included (median follow-up, 80.9 months). Of all patients included, 117 (2.0%) had ER-low tumors: 63 (53.8%) of whom had HER2- tumors and 54 (46.2%) HER2+ tumors. Five-year DFS and OS were highest in the ER-high/HER2- cohort (94.0% and 98.6%, respectively) and lowest in the triple-negative breast cancer (TNBC; 81.3% and 90.1%) and ER-low/HER2- (85.7% and 92.1%) cohorts. Menopausal status, elevated Ki-67, higher nuclear grade, higher tumor stage, presence of lymphovascular invasion, greater regional lymph node involvement, and larger tumor size were all potential prognostic factors for shorter DFS and OS., Conclusion: Patients with ER-low/HER2- breast cancer had similar clinicopathological characteristics, treatments, and outcomes as patients with TNBC irrespective of disease setting. Further research is needed to understand predictive and prognostic factors associated with ER-low/HER2- disease., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: Since April 2015, the Korean National Health Insurance (NHI) has reimbursed breast cancer patients, approximately 50% of the cost of the breast reconstruction (BR) procedure. We aimed to investigate NHI reimbursement policy influence on the rate of immediate BR (IBR) following total mastectomy (TM)., Methods: We retrospectively analyzed breast cancer data between April 2011 and June 2016. We divided patients who underwent IBR following TM for primary breast cancer into "uninsured" and "insured" groups using their NHI statuses at the time of surgery. Univariate analyses determined the insurance influence on the decision to undergo IBR., Results: Of 2,897 breast cancer patients, fewer uninsured patients (n = 625) underwent IBR compared with those insured (n = 325) (30.0% vs. 39.8%, P < 0.001). Uninsured patients were younger than those insured (median age [range], 43 [38-48] vs. 45 [40-50] years; P < 0.001). Pathologic breast cancer stage did not differ between the groups (P = 0.383). More insured patients underwent neoadjuvant chemotherapy ( P = 0.011), adjuvant radiotherapy ( P < 0.001), and IBR with tissue expander insertion ( P = 0.005) compared with those uninsured., Conclusion: IBR rate in patients undergoing TM increased after NHI reimbursement., Competing Interests: The authors have no potential conflicts of interest to disclose., (© 2021 The Korean Academy of Medical Sciences.)

Background: The aim of this study was to examine the accuracy of radiologic complete response (rCR) in predicting pathologic complete response (pCR), and determine whether rCR is a predictor of favorable survival outcomes., Materials and Methods: We retrospectively reviewed breast cancer patients treated with neoadjuvant chemotherapy (NAC) followed by surgery from September 2007 to June 2016. Breast lesions and axillary nodes were measured by MRI and categorized into either disappeared (breast rCR) or residual disease (breast non-rCR) and either normalized (axillary rCR) or abnormal findings (axillary non-rCR) in the axillary nodes. Correlation between rCR and pCR were compared using Cohen's Kappa statistics, and the recurrence-free survival (RFS) and overall survival (OS) rates were calculated by the Kaplan-Meier method., Results: Out of the 1017 eligible patients, 287 (28.2%) achieved breast pCR, 165 (16.2%) achieved breast rCR, 529 (52.0%) had axillary pCR, and 274 (26.9%) achieved axillary rCR. The correlation between a breast rCR and pCR showed a Cohen's Kappa value of 0.459, and between axillary rCR and pCR, the value was 0.384. During a median follow-up time of 48.0 months, the 5-year RFS rates were 90.6% for breast rCR, and 69.2% for breast non-rCR. The 5-year RFS rates were 82.3% for axillary rCR, and 68.8% for axillary non-rCR. Patients without breast rCR had a 2.4-fold significant increase in the risk of recurrence (p = 0.004) compared to patients with breast rCR., Conclusion: Although rCR correlated with pCR by only moderate to fair degrees, breast rCR was a strong predictor for a favorable RFS outcome., Competing Interests: Declaration of competing interest The authors declare no conflict of interest., (Copyright © 2020 Elsevier Ltd, BASO ~ The Association for Cancer Surgery, and the European Society of Surgical Oncology. All rights reserved.)

Importance: The potential association between breast implant-related anaplastic large cell lymphoma (BIA-ALCL) and implant texture has raised concerns about the additional unexpected adverse effects of textured implants, including potentially adverse outcomes for other cancers. In addition to the risk of developing BIA-ALCL, breast cancer survivors may worry about whether the type of implant inserted is associated with recurrence of their original cancer-an issue for which little evidence currently exists., Objective: To evaluate the oncologic outcomes of breast cancer according to the surface type of implants used for reconstruction and to identify the independent factors associated with breast cancer recurrence and survival, including implant surface type., Design, Setting, and Participants: This cohort study was conducted at Samsung Medical Center, a single tertiary referral center in Seoul, South Korea. Patients with breast cancer who underwent total mastectomy and immediate 2-stage tissue expander/implant reconstruction between January 1, 2011, and December 31, 2016, were identified from a prospectively maintained database. Patients were categorized into 2 groups according to the surface type of implant used for their reconstruction (smooth or textured implant). These patients were followed up for at least 2 years after insertion of the implant. Data analysis was performed from February 15, 2020, to March 5, 2020., Exposures: Use of smooth implants vs textured implants at the second-stage operation., Main Outcomes and Measures: The main outcomes of interest were local and regional recurrence-free survival (LRRFS) and disease-free survival (DFS) rates. Cumulative incidence of oncologic events in the smooth implant and textured implant groups and their respective hazard ratios (HRs) were collected and updated regularly., Results: In total, 650 patients (all women, with a mean [SD] age of 43.5 [7.4] years), representing 687 cases, met the inclusion criteria and were followed up for a median (range) duration of 52 (31-106) months. Of the 687 cases, 274 (39.9%) received a smooth implant and 413 (60.1%) received a textured implant. Patients in these 2 surface texture groups had similar characteristics, including tumor staging (stage I: 102 [37.2%] vs 173 [41.9%]; stage II: 93 [33.9%] vs 119 [28.8%]; stage III: 14 [5.1%] vs 20 [4.8%]; P = .50) and rates of adjuvant radiotherapy (42 [15.3%] vs 49 [11.9%]; P = .19) and chemotherapy (113 [41.2%] vs 171 [41.4%]; P = .97). The 5-year LRRFS was 96.7%, and the 5-year DFS was 95.2%. Compared with the use of a smooth implant, textured implant use was statistically significantly associated with lower DFS, and this difference remained significant after adjusting for estrogen receptor (ER) status and tumor stage (HR, 3.054; 95% CI, 1.158-8.051; P = .02). Similar statistically significant associations were observed on multivariable analysis of patients with ER-positive cancer (HR, 3.130; 95% CI, 1.053-9.307; P = .04) and those with invasive cancer (HR, 3.044; 95% CI, 1.152-8.039; P = .03). The association of textured implant use with recurrence (lower DFS) was more prominent in cases with late-stage (stage II or III) tumor (HR, 8.874; 95% CI, 1.146-68.748; P = .04). The LRRFS did not differ statistically significantly according to implant surface texture., Conclusions and Relevance: This cohort study found that use of textured implants in reconstruction appears to be associated with recurrence of breast cancer. Further investigation is required to verify these results.

Numerous studies have shown that vitamins reduce the risk of cancers, but the relationship between serum vitamin levels and breast cancer is still controversial. In this study, we evaluated serum levels of vitamins in Korean patients with benign breast disease or breast cancer and investigated their associations with clinical and laboratory parameters. Concentrations of vitamin A, D, and E, together with homocysteine and methylmalonic acid as biomarkers of vitamin B12 deficiency, were measured by high-performance liquid chromatography (HPLC) or liquid chromatography with tandem mass spectrometry (LC-MS/MS) in the serum of 104 breast cancer patients, 62 benign breast disease patients, and 75 healthy Korean females. We further assessed possible associations between vitamin levels and breast cancer subtypes, the presence of lymph node metastasis, and tumor stages. Serum concentrations of vitamins A and E were significantly lower in breast cancer patients and in benign breast disease patients than in healthy controls. Severe vitamin D deficiency was more prevalent in breast cancer patients than in healthy controls. Vitamin D level was significantly lower in breast cancer patients with estrogen receptor-negative or triple-negative subtypes than in those with other subtypes. Further research with a larger study population is required to elucidate the role of vitamins in breast cancer.

Purpose: Recent studies revealed the BRCA1 c.5339T>C, p.Leu1780Pro variant (L1780P) is highly suggested as a likely pathogenic. The aim of this study was to evaluate clinicopathologic features of L1780P with breast cancer (BC) using multicenter data from Korea to reinforce the evidence as a pathogenic mutation and to compare L1780P and other BRCA1/2mutations using Korean Hereditary Breast Cancer (KOHBRA) study data., Materials and Methods: The data of 54 BC patients with L1780P variant from 10 institutions were collected and the clinicopathologic characteristics of the patients were reviewed. The hereditary breast and/or ovarian cancer-related characteristics of the L1780P variant were compared to those of BC patients in the KOHBRA study., Results: The median age of all patients was 38 years, and 75.9% of cases showed triple-negative breast cancer. Comparison of cases with L1780P to carriers from the KOHBRA study revealed that the L1780P patients group was more likely to have family history (FHx) of ovarian cancer (OC) (24.1% vs. 19.6% vs. 11.2%, p < 0.001 and p=0.001) and a personal history of OC (16.7% vs. 2.9% vs. 1.3%, p=0.003 and p=0.001) without significant difference in FHx of BC and bilateral BC. The cumulative risk of contralateral BC at 10 years after diagnosis was 31.9%, while the cumulative risk of OC at 50 years of age was 20.0%. Patients with L1780P showed similar features with BRCA1 carriers and showed higher penetrance of OC than patients with other BRCA1 mutations., Conclusion: L1780P should be considered as a pathogenic mutation. Risk-reducing salpingo-oophorectomy is highly recommended for women with L1780P.

The development and validation of guidelines for breast cancer survivors are of importance due to the increased survival rate for breast cancer. In this cross-sectional study, we aimed to examine the association between adherence to the American Cancer Society (ACS) guidelines for cancer survivors and health-related quality of life (HRQoL). A total of 618 breast cancer survivors aged 30 to 81 years who had been diagnosed with stage I to III primary breast cancer and had surgery at least a year before enrollment were included. The participants completed the 36 Item Short-Form Health Survey (SF-36) to evaluate HRQoL, and adherence scores were calculated based on the Nutrition and Physical Activity Guidelines for Cancer Survivors, which were released by the ACS. Increasing adherence scores were associated with increasing scores on the physical component summary (PCS) and the physical functioning (PF), bodily pain (BP), and vitality (VT) domains ( p for trend <0.001 for PCS and PF, 0.01 for BP, and 0.02 for VT); these scores were mainly driven by the associations among survivors with stage II-III cancer. Further prospective studies are needed to evaluate whether adherence to these guidelines improves HRQoL scores among breast cancer survivors.

Background: Oncotype DX(ODX) is a 21-gene breast cancer recurrence score(RS) assay that aids in decision-making for chemotherapy in early-stage hormone receptor-positive(HR+)breast cancer. We developed a prediction tool using machine learning for high- or low-risk ODX criteria (i.e., RS < 11 for low-risk; RS > 25 for high-risk)., Methods: We performed a retrospective review of 301 breast cancer patients who underwent surgery between April 2011 and July 2017 and then an ODX test at Samsung Medical Center in Seoul, Korea. Among them, 208 cases were defined as the modeling group and 76 cases were defined as the validation group. We built a supervised machine learning classification model using the Azure ML platform., Results: For the high RS group, accuracy was 0.903 through Two-class Decision Jungle method in test set. For the low RS group, the accuracy was 0.726 when the Two-class Neural Network method was applied. The AUC of the ROC curve was 0.917 in the high RS group and 0.744 in the low RS group in test set. In addition, we conducted an internal validation using 76 patients who underwent ODX testing between January 2017 and July 2017. The accuracy of validation was 0.880 in the high RS group and 0.790 in the low RS group., Conclusion: We developed a predictive model using machine learning that could represent a useful and easy-to-access tool for the selection of high ODX RS patients. After additional evaluation with large data and external validation, worldwide use of our model could be expected., (Copyright © 2018. Published by Elsevier Ltd.)

Purpose: Women with breast cancer in Asian and Western countries are similar in many respects, but there are also differences, such as in the age at onset and the proportion of breast cancer occurring at younger ages. There is controversy as to whether these differences are due to inter-racial genetic differences or to environmental or other factors., Methods: Using the Korean Breast Cancer Society's large breast cancer registry, we investigated the causes of Koreans' unique breast cancer characteristics by examining the changes in the incidence and proportion of young-onset breast cancer (YBC) in Korea over time. We analyzed data from 108,894 patients to compare characteristics between patients with YBC and non-YBC. For a subtype analysis, we analyzed data from 85,691 patients from 2000., Results: Among the 108,894 patients, 17,877 (15.5%) had YBC. The tumors associated with YBC showed aggressive clinicopathologic features. The incidence of breast cancer in Korea has increased over time, and while both YBC and non-YBC increased each year, the increase in non-YBC was more pronounced; thus, the proportion of YBC has decreased over time. By 2020, it appears that the ratio of YBC in Korea will be similar to that in Western countries. The increase in YBC was mainly due to an increase in the luminal A subtype. The incidence of other YBC subtypes did not change over time., Conclusions: Our data suggest that the current high proportion of YBC is probably not a unique feature of breast cancer in Asia but rather a transient phenomenon. Additionally, our results indirectly suggest that there were different causes for breast cancer in different age groups, suggesting the importance of using different approaches for different age groups to establish policies for preventing breast cancer.

Purpose: Triple-negative breast cancer (TNBC) accounts for 10-20% of all diagnosed BCs and it is enriched in BRCA1 mutation. Guidelines for Western countries suggest that BRCA 1/2 genetic testing should be done for patients with TNBC diagnosed less than 60 years, but there is lack of evidence supporting genetic testing in Asian populations. We determined the prevalence of germline BRCA 1/2 mutations among unselected Korean patients with TNBC and analyzed oncologic outcomes., Methods: From among 1628 women with TNBC who underwent surgery at Samsung Medical Center (SMC) between Jul 2008 and Jan 2016, 999 samples were available in the SMC biobank for testing germline BRCA 1/2 mutations using next-generation DNA sequencing., Results: Overall, 131 Korean patients (13.1%) had BRCA 1/2 mutations: 97 (9.7%) were in BRCA 1, and 35 (3.5%) were in BRCA 2. One patient had both BRCA 1 and BRCA 2 mutations. Overall, 68 distinct pathologic or likely pathogenic variants (43 BRCA1 and 25 BRCA2) were found. Among those diagnosed at ≤ 60 years, the prevalence of BRCA 1/2 mutation was 14.5%. The mean age of diagnosis of BRCA1/2 mutation carriers was significantly younger than that of non-carriers (45.6 vs. 50.1 years, p < 0.0001). The median follow-up duration was 53.6 months. There were no significant differences in disease-free survival, overall survival, or breast cancer-specific survival (p = 0.799, 0.092, and 0.124, respectively) between BRCA 1/2 carriers and non-carriers, although BRCA 1/2 carriers showed significantly worse contralateral breast cancer-free survival (p < 0.0001) than non-carriers., Conclusion: In unselected TNBC patients, we found BRCA 1/2 mutations in 13.1% of overall patients and 14.5% of patients ≤ 60 years. We suggest that Korean women with TNBC diagnosed at ≤ 60 years should be tested for BRCA1/2 mutation.

The relationships between serum levels of trace elements and breast cancer remain relatively unknown. In this study, we investigate serum levels of seven trace elements in Korean breast cancer patients compared to controls without breast cancer. Serum trace element levels were determined using inductively coupled plasma mass spectrometry in Korean breast cancer patients before initiation of breast cancer treatment. Korean females without breast cancer served as a control group. Trace element levels were measured in the discovery cohort ( n = 287) and were validated in an independent cohort ( n = 142). We further investigated possible associations between trace element levels and the presence of lymph node metastasis, distant metastasis, or triple-negative breast cancer among breast cancer patients in subgroup analyses. Serum manganese and molybdenum levels were significantly higher ( p < 0.05) in breast cancer patients than in controls. Serum copper levels were significantly higher in breast cancer patients with distant metastasis, while selenium levels were significantly lower. Other trace elements were neither significantly different between breast cancer patients and controls nor between subgroups of breast cancer patients. Our study provides insights about the potential roles and impacts of trace elements through an assessment of the associations between trace elements and breast cancer.

Background: BRCA1 and BRCA2 ( BRCA1/2 ) variants classified ambiguously as variants of uncertain significance (VUS) are a major challenge for clinical genetic testing in breast cancer; their relevance to the cancer risk is unclear and the association with the response to specific BRCA1/2 -targeted agents is uncertain. To minimise the proportion of VUS in BRCA1/2 , we performed the multifactorial likelihood analysis and validated this method using an independent cohort of patients with breast cancer., Methods: We used a data set of 2115 patients with breast cancer from the nationwide multicentre prospective Korean Hereditary Breast Cancer study. In total, 83 BRCA1/2 VUSs ( BRCA1 , n=26; BRCA2 , n=57) were analysed. The multifactorial probability was estimated by combining the prior probability with the overall likelihood ratio derived from co-occurrence of each VUS with pathogenic variants, personal and family history, and tumour characteristics. The classification was compared with the interpretation according to the American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG/AMP) guidelines. An external validation was conducted using independent data set of 810 patients., Results: We were able to redefine 38 VUSs ( BRCA1 , n=10; BRCA2 , n=28). The revised classification was highly correlated with the ACMG/AMP guideline-based interpretation ( BRCA1 , p for trend=0.015; BRCA2 , p=0.001). Our approach reduced the proportion of VUS from 19% (154/810) to 8.9% (72/810) in the retrospective validation data set., Conclusion: The classification in this study would minimise the 'uncertainty' in clinical interpretation, and this validated multifactorial model can be used for the reliable annotation of BRCA1/2 VUSs., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2018. No commercial re-use. See rights and permissions. Published by BMJ.)

The Breast Cancer Test (BCT) score has been validated for its ability to predict the risk of distant metastasis in hormone receptor-positive, human epidermal growth factor receptor 2 (HER2)-negative early breast cancer. This study aimed to examine the value of the BCT score for predicting the benefit of adjuvant chemotherapy for Korean women with hormone receptor-positive, HER2-negative, lymph node-negative breast cancer. The study included 346 patients treated with either hormone therapy alone (n = 203) or hormone therapy plus chemotherapy (n = 143), and compared patient survival between the two treatment groups. The effect of BCT score on patient survival by treatment group was assessed using Cox proportional hazards models. Based on the results, the BCT score was prognostic for distant metastasis-free survival and breast cancer-specific survival in the hormone therapy alone group. There was no significant difference between the treatment groups in terms of 10-year distant metastasis-free survival in the overall patient population. However, when patients were classified as low risk (n = 266) and high risk (n = 80) according to the BCT score, addition of adjuvant chemotherapy to hormone therapy for patients classified as BCT high-risk group led to a significant improvement in 10-year distant metastasis-free survival, from 65.4% to 91.9% (hazard ratio, 0.18; 95% confidence interval, 0.05-0.64; P = 0.003); in contrast, there was no benefit for the BCT low-risk group. The stratification of patients according to the BCT score also identified clinically high-risk patients who may not benefit from chemotherapy. Results were similar for breast cancer-specific survival. In conclusion, the BCT score was not only of prognostic value but was also a predictor of chemotherapy benefit for Korean patients with hormone receptor-positive, HER2-negative, lymph node-negative breast cancer., Competing Interests: JH is a salaried employee of Gencurix. YKS holds a patent application related to the content of this article. This does not alter our adherence to PLOS ONE policies on sharing data and materials. The other authors have no competing interests to declare.

Purpose: The aim of the current study is to assess the spectrum of genetic variation in the BRIP1 gene among Korean high-risk breast cancer patients who tested negative for the BRCA1/2 mutation., Materials and Methods: Overall, 235 Korean patientswith BRCA1/2 mutation-negative high-risk breast cancerwere screened for BRIP1 mutations. The entire BRIP1 gene was analyzed using fluorescent-conformation sensitive gel electrophoresis. In silico analysis of BRIP1 variants was performed using PolyPhen-2 and SIFT., Results: A total of 20 sequence alterations including 12 exonic and eight intronic variantswere found. Among the 12 exonic variants, 10 were missense and two were silent mutations. No protein-truncating mutation was found among the tested patients. Among the 10 missense variants, four (p.L263F, p.L340F, p.L474P, and p.R848H) were predicted to be pathogenic by both PolyPhen-2 and SIFT, and these variants were found in five patients. Of the four missense variants, p.L263F, p.L474P, and p.R848H localize to regions between the helicase motifs, while p.L340F resides in an iron-sulfur domain of BRIP1., Conclusion: No protein-truncating mutation in BRIP1 was found among the tested patients. The contribution of BRIP1 variants is thought to be minor in Korean non-BRCA1/2 high-risk breast cancer.

The aim of this study is to review the characteristics and the survival rate in male breast cancer (MBC) patients in Korea over a 31-year period. Additionally, we analyzed the overall survival (OS) rate of a group of MBC matched to females with breast cancer. We retrospectively analyzed the data from 400 Korean patients who were treated for MBC from 1978 to 2009. Patient demographics and clinical information were routinely documented throughout the study period. Survival and prognostic factors were evaluated. Each MBC patient was matched with 5 female breast cancer (FBC) patients based on 7 characteristics and we compared the OS rates between the 2 groups. For MBC cases, the median follow-up was 72 months and the 5-year OS rate was 85.9%. In univariate analyses, the prognostic factors influencing OS were age (more than 60 years, P <0.001), tumor size (>2 cm, P = 0.007), and having a negative progesterone receptor (PR) status (P = 0.042). Only the age (P = 0.028) and tumor size (P = 0.024) were significant prognostic factors for OS in multivariate analysis. After matching, we had 260 male patients matched to 1300 female patients for analysis. Compared with cases among females, the rate of mastectomy was higher among MBC cases and tumors, which were almost invasive ductal carcinomas (IDCs), were more likely to be located in the central part of the breast. For MBC cases, the percentage of adjuvant radiation therapy was low compared with female cases. The primary hormone therapy agent used was tamoxifen. The 5-year OS rates were similar in MBC compared with FBC (91.0% vs. 92.6%, P = 0.300). We found that only the age (more than 60 years) and tumor size were independent prognostic factors of survival in MBC. The prognosis for MBC is similar to that for FBC given similar stage and hormone-receptor status.

Background: Young breast cancer patients have a poorer prognosis, especially when their tumors are hormone receptor positive. We analyzed the association between Ki67 and age and the impact of these factors on outcomes in hormone receptor-positive breast cancer., Methods: The records of 9,321 hormone receptor-positive invasive breast cancer patients from three large centers were retrospectively reviewed. Each institution separately assayed Ki67 level immunohistochemically. Univariate and multivariate analysis for recurrence-free survival (RFS) was performed on 4,738 patients from a single center., Results: Ki67 level was inversely proportional to age in all three data sets and was significantly higher for younger patients (p < 0.001, 0.03, and <0.001, respectively). This correlation was seen only in the human epidermal growth factor receptor 2 (HER2)-negative population. Survival analysis showed that both very young age (<35 years) and high Ki67 level (≥10 %) were independent prognostic factors. Although young age was a worse prognostic indicator regardless of HER2 status, Ki67 index was associated with worse prognosis only in HER2-negative patients. When patients were stratified into those with low and high Ki67, young age remained a significant factor for RFS, with hazard ratios in these two Ki67 groups of 2.15 and 2.57, respectively (p < 0.001). Also, the young age/low Ki67 group had significantly poorer RFS than the older age/high Ki67 group (p < 0.001)., Conclusions: Ki67 level was higher in younger patients. However, very young patients had a poorer prognosis regardless of Ki67 level. Unknown biologic factors other than high cell proliferation might play a role in the aggressiveness of hormone receptor-positive breast cancer in very young patients.

We carried out this study to evaluate the association between mammographic density adjusted for age and BMI and early-onset breast cancer in Asian women. We recruited 213 Korean patients with breast cancer (45% diagnosed before the age of 50 years) and 630 controls matched for age, menopausal status, and examination date. The percentage and absolute size of dense areas on digital mammograms were measured using a computer-assisted thresholding technique (Cumulus). We carried out an analysis using the conditional logistic regression model with adjustment for covariates. An increase by 1 SD in age and BMI-adjusted absolute dense area and percentage dense area was associated with a 1.15-fold (95% confidence interval: 1.03, 1.29) and 1.20-fold (95% confidence interval: 1.06, 1.37) increased risk of breast cancer, respectively. These associations were stronger for premenopausal disease (P=0.07 and 0.01, respectively) and for disease diagnosed before age 50 (P=0.07 and 0.02, respectively) than for postmenopausal disease (P=0.16 and 0.23, respectively) or later onset disease (P=0.10 and 0.10, respectively). There was no difference in the associations with premenopausal versus postmenopausal and early-onset versus late-onset disease. After adjusting for age and BMI, both a greater absolute dense area and a greater percentage dense area were associated with an increased risk of breast cancer, particularly at a young age.

The purpose of our study was to investigate and identify comprehensively the clinicopathological features and long-term outcome of young breast cancer (YBC) according to intrinsic subtype. We analyzed clinical and pathological characteristics of 2844 women who were diagnosed with invasive breast cancer from 2000 to 2007 and the treatment outcomes by age at diagnosis. The median age of the patients was 46 years (range, 21-83 years), and we divided them into three age group: ≤35 years (Group 1), 36-50 years (Group 2), and >50 years (Group 3). During a median follow-up of 100 months, the 5-year recurrence-free survival rate (RFSR) and overall survival rate (OSR) were 90.8% and 94.6%, respectively. The 10-year estimated RFSR and OSR were 81.9% and 86.9%, respectively. The prognosis of TN subtype appeared not to be worse than that of other subtypes in Group 1. In Group 1 alone (≤35 years), subtype was not identified as an independent risk factor for distant recurrence-free survival (DRFS) in a Cox-regression multivariate model (hazard ratio, 0.85; 95% CI, 0.68-1.06; p = 0.148). This analysis revealed a very high prevalence of YBC in this cohort. The poor outcomes of YBC patients might result from an increased frequency of triple negative (TN)/HER2 subtypes and the more aggressive clinical behavior of ER-positive tumors compared with older patients. Further research to elucidate the biologic difference of the ER+ tumors of YBC patients is warranted., (Copyright © 2015 Elsevier Ltd. All rights reserved.)

The Korean Hereditary Breast Cancer (KOHBRA) study was established to evaluate the prevalence and spectrum of BRCA1/2 mutations in Korean breast cancer patients at risk for hereditary breast and ovarian cancer. A total of 2953 subjects (2403 index patients and 550 family members of affected carriers) from 36 centers participated in this study between May 2007 and December 2013. All participants received genetic counseling and BRCA genetic testing. In total, 378 mutation carriers among 2403 index patients were identified. The prevalence of BRCA mutations in specific subgroups was as follows: 22.3 % (274/1228) for breast cancer patients with a family history of breast/ovarian cancers, 8.8 % (39/441) for patients with early-onset (<35 years) breast cancer without a family history, 16.3 % (34/209) for patients with bilateral breast cancer, 4.8 % (1/21) for male patients with breast cancer, and 37.5 % (3/8) for patients with both breast and ovarian cancer. From an analysis of the mutation spectrum, 63 BRCA1 and 90 BRCA2 different mutations, including 44 novel mutations, were identified. The c.7480 (p.Arg2494Ter) mutation in BRCA2 (10.1 %) was the most commonly identified in this cohort. The KOHBRA study is the largest cohort to identify BRCA mutation carriers in Asia. The results suggest that the prevalence of BRCA mutations in familial breast cancer patients is similar to that among Western cohorts. However, some single risk factors without family histories (early-onset breast cancer, male breast cancer, or multiple organ cancers) may limit the utility of BRCA gene testing in the Korean population.

Purpose: This study aims to evaluate the impact of chemotherapy-induced alopecia (CIA) distress on body image, psychosocial well-being, and depression among breast cancer patients., Methods: A cross-sectional survey was conducted at the breast cancer advocacy events held at 16 hospitals in Korea. Alopecia distress was assessed using the 'Chemotherapy-Induced Alopecia Distress Scale', body image and psychosocial well-being were measured by the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 and breast specific module (BR23), and depression was measured using the Center for Epidemiological Studies Depression scale. Means of outcomes were compared between low and high CIA distress groups. Univariable and multivariable linear regression models were used to analyze the relationship between the CIA distress and body image, psychosocial well-being, and depression., Results: One hundred sixty-eight breast cancer patients participated in the study; the mean age was 48.4 (SD = 8.4) years, and 55.3% of the patients experienced higher distress from alopecia. In fully adjusted models, the high distress group was more likely to have a poorer body image than the low distress group (35.2 vs. 62.0; p < 0.001). Distressed patients were also more likely to report lower emotional (55.3 vs. 76.9; p < 0.001), role (58.6 vs. 72.0; p < 0.001), and social functioning (51.3 vs. 70.9; p < 0.001). The high distress group was also more likely to have depression compared with the low distress group (19.6 vs. 14.8; p < 0.001)., Conclusions: Chemotherapy-induced alopecia distress was negatively associated with body image, psychosocial well-being, and depression in women with breast cancer. It is necessary to develop specific interventions to minimize distress due to alopecia for women with breast cancer., (Copyright © 2014 John Wiley & Sons, Ltd.)

Triple-negative breast cancer (TNBC) accounts for 12-24 % of all breast cancers. Here, we studied 221 familial breast and/or ovarian cancer patients from 37 hospitals using a comprehensive approach to identify large genomic rearrangements (LGRs) as well as sequence variants, and investigated the association between BRCA1/2 mutational status and TNBC. We performed direct sequencing or mutation scanning followed by direct sequencing. Then, 143 BRCA1/2 mutation-negative patients were screened for LGRs. In this study, the prevalence of BRCA1/2 mutations was high (36.9 %). The prevalence of BRCA1 mutations was similar to that of BRCA2 mutations: 49.4 versus 50.6 %, respectively. TNBC was diagnosed in 35.2 % of BRCA1/2 mutation carriers and 57.1 % of BRCA1 mutation carriers. Conversely, two-thirds of TNBC patients carried BRCA1/2 mutation(s), and about half were BRCA1 mutation carriers. When stratified by the mutated gene, TNBC prevalence in BRCA1 mutation carriers was significantly lower when there was a family history of ovarian cancer. Our multinomial logistic regression model demonstrated that no single factor was sufficient, and at least two factors, such as a patient with family history of both breast cancer and ovarian cancer or a patient diagnosed at a relatively young age (<40 years) with a TNBC phenotype, are necessary to indicate BRCA1/2 genetic testing in this population. Our results suggest that TNBC is a strong predictor for the presence of a BRCA1 mutation in this population, but additional risk factors should also be evaluated to ascertain a 10 % or higher prior probability of BRCA1/2 mutation testing.

We investigated the relationship between the time of radiotherapy (RT) and treatment outcomes in breast cancer. Patients with pathologic T1-2N0-1 breast cancer who received adjuvant RT in the morning (before 10:00 AM) or late afternoon (after 3:00 PM) were eligible for inclusion in this study. We retrospectively compared the clinicopathologic characteristics, acute skin reaction, and survival outcomes according to the time of RT. The median follow-up duration was 83 months (range, 10-131 months). From the 395 eligible patients, 190 (48.1%) and 205 (51.9%) patients were classified into the morning RT group and the afternoon RT group, respectively. The clinicopathologic characteristics were relatively well balanced between the treatment groups, except for pathologic N-stage (P = 0.0409). Grade 2 or higher acute skin reaction according to the Radiation Therapy Oncology Group criteria was observed in 39 (9.9%) patients, with a higher frequency in the afternoon RT group than the morning RT group (13.7% vs 5.8%, respectively; P = 0.0088). There was no difference in the failure patterns or survival outcomes between the treatment groups. RT in late afternoon was associated with increased Grade 2 or more skin reaction after RT for breast cancer patients, but treatment outcomes did not differ according to the time of RT. Individualized considerations for treatment should be taken into account to reduce the risk of skin reactions.

We investigated genetic anticipation of breast or ovarian cancer in patients with familial breast cancer. Among 201 patients with breast cancer who had a family history of breast or ovarian cancer, 95 families had affected familial members in the previous generation. Of these families, 2 were excluded because of insufficient data. From the 93 eligible families, 112 and 111 members were identified in the previous and proband generations, respectively. BRCA mutations were detected in 26 (28.0%) of the 93 probands. The median age at diagnosis of the first generation was 57 years and of the second generation was 40 years, which was a significant difference. The result from the mixed-effects model also demonstrated significant genetic anticipation (P < 0.0001). The expected age difference at onset of breast or ovarian cancer between the two generations was 17.06 years. BRCA mutation status did not influence the generational difference in age at diagnosis (17.99 vs. 16.62 y, P = 0.3973). Genetic counseling and early screening should be provided to women whose parent had a breast or ovarian cancer diagnosis., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Background: Breast cancer patients experience a variety of altered appearance--such as loss or disfigurement of breasts, discolored skin, and hair loss--which result in psychological distress that affect their quality of life. This study aims to evaluate the impact of socioeconomic status on the altered appearance distress, body image, and quality of life among Korean breast cancer patients., Materials and Methods: A cross-sectional survey was conducted at advocacy events held at 16 different hospitals in Korea. Subjects were eligible to participate if they were 18 years of age or older, had a histologically confirmed diagnosis of breast cancer, had no evidence of recurrence or metastasis, and had no psychological problems at the time of the survey. Employment status, marital status, education, and income were assessed for patient socioeconomic status. Altered appearance distress was measured using the NCI's cancer treatment side effects scale; body image and quality of life were measured by the EORTC QLC-C30 and BR23. Means and standard deviations of each outcome were compared by socioeconomic status and multivariate linear regression models for evaluating the association between socioeconomic status and altered appearance distress, body image, and quality of life., Results: A total of 126 breast cancer patients participated in the study; the mean age of participants was 47.7 (SD=8.4). Of the total, 83.2% were married, 85.6% received more than high school education, 35.2% were employed, and 41% had more than $3000 in monthly household income. About 46% had mastectomy, and over 30% were receiving either chemotherapy or radiation therapy at the time of the survey. With fully adjusted models, the employed patients had significantly higher altered appearance distress (1.80 vs 1.48; p<0.05) and poorer body image (36.63 vs 51.69; p<0.05) compared to the patients who were unemployed. Higher education (10.58, standard error (SE)=7.63) and family income (12.88, SE=5.08) was positively associated with better body image after adjusting for age, disease stage at diagnosis, current treatment status, and breast surgery type. Similarly, patients who were married and who had higher education had better quality of life were statistically significant in the multivariate models., Conclusions: Socioeconomic status is significantly associated with altered appearance distress, body image, and quality of life in Korean women with breast cancer. Patients who suffer from altered appearance distress or lower body image are much more likely to experience psychosocial, physical, and functional problems than women who do not, therefore health care providers should be aware of the changes and distresses that these breast cancer patients go through and provide specific information and psychosocial support to socioeconomically more vulnerable patients.

Background: It remains uncertain whether MRI identification of additional foci of disease leads to improved outcome. We undertook a study to evaluate the influence of breast MRI on early and long-term outcome., Methods: Among 1,271 patients undergone breast cancer surgery between January 2005 and December 2006, 785 patients were attempted for BCS. Operative approach and radiologic findings were compared according to MRI use. We reselected 615 patients with unilateral early-stage breast cancer treated with BCS including RT. We compared the histopathologic characteristics and outcomes according to MRI use., Results: In patients attempted for BCS (n = 785), re-excision rates were not significantly different according to MRI use (P = 1.000). Conversion to mastectomy or bilateral cancer surgery were higher in MRI group (P = 0.002). The IBTR rate was higher in the non-MRI group (P = 0.020). Difference in contralateral cancer rate and total recurrence rates failed to reach statistical significance (P = 0.168, 0.383, respectively). Multivariate study after adjustment showed no difference in recurrence rates and IBTR rates between the two groups (hazard ratios 1.34, 6.37 Ps = 0.385, 0.076)., Conclusion: Use of MRI in patients with early-stage breast cancer did not result in improvement of a patient's outcome., (Copyright © 2013 Wiley Periodicals, Inc.)

The primary aim of this study was to estimate the prevalence of BRCA1/2 mutations among familial breast cancer (BC) patients in Korea. We analyzed 775 familial BC patients who were enrolled in the Korean Hereditary Breast Cancer (KOHBRA) study and treated at 36 institutions between May 2007 and May 2010. Patients with familial BC were defined as BC patients with family histories of BC or ovarian cancer (OC) in any relatives. All probands received genetic counseling and BRCA genetic testing was performed after obtaining informed consent. The mean age of BC diagnosis was 43.6 years. The numbers of probands with family histories of BC only and OC only were 682 and 93, respectively. The overall prevalence of the BRCA mutation among familial BC patients was 21.7 % (BRCA1 9.3 % and BRCA2 12.4 %). Subgroup analyses observed prevalences of the BRCA mutation as follows: 19.6 % among patients with BC family history only (BRCA1 7.6 % and BRCA2 12.0 %) and 36.6 % among patients with OC family history only (BRCA1 21.5 % and BRCA2 15.1 %). Most of the subgroups satisfied the 10 % probability criteria to undergo BRCA testing. However, the prevalence of the BRCA mutations among subgroups that had 2 BC patients in a family with both age at diagnosis of more than 50 years old did not reach the 10 % criteria (4.1 %). Korean familial BC patients are good candidates for BRCA testing even when they have family histories of single breast cancers. However, proband age at diagnosis should be carefully considered when selecting patients for testing.

BRCAPRO and Myriad II are widely used models for predicting BRCA1/2 mutation probability before genetic testing. However, the accuracy of these models in Koreans is not known. This study was performed to evaluate the accuracy of the BRCAPRO and Myriad II models. Two hundred thirty-six women with breast cancer who underwent comprehensive BRCA1/2 genetic testing at our hospital between 2003 and 2010 were included in this study. We evaluated the performance of each model by comparing the numbers of observed versus predicted mutation carriers. We calculated sensitivity, specificity, and predictive values at 10 % estimated probability. Forty-six individuals were identified to carry a deleterious BRCA mutation. The prevalence of BRCA mutation (19.5 %) was significantly higher than that predicted by BRCAPRO (9.0 %, p = 0.001) and Myriad (5.6 %, p < 0.001). In familial breast cancer patients, BRCA mutation rate (observed 22.7 %) was underestimated by both BRCAPRO (expected 11.4 %, p = 0.006) and Myriad II (expected 6.4 %, p < 0.001). Subgroup analyses showed that both models underestimated the risk of BRCA mutation in patients with a family history of breast cancer (probands' age at breast cancer diagnosis >50 years), with only one relative with breast cancer, and with non-familial early-onset breast cancer or bilateral breast cancer. Using a 10 % cut-off, the sensitivities were 47.8 % (BRCAPRO) and 50.0 % (Myriad), and positive predictive values were 44.9 % (BRCAPRO) and 43.4 % (Myriad). Both BRCAPRO and Myriad II underestimated the risk of BRCA1/2 mutation in Koreans. Our findings suggest that these models are less sensitive in Korean women, and therefore a new BRCA mutation prediction model based on Korean data is needed for proper genetic counseling.

Prevalence and phenotype of BRCA mutation can vary by race. The purpose of this study is to evaluate the prevalence of BRCA1/2 mutations in non-familial breast cancer patients with high risks in Korea. A subset of 758 patients was selected for this study from the KOHBRA nationwide multicenter prospective cohort study. Mutations in BRCA1/2 genes were tested using fluorescent-conformation sensitive gel electrophoresis, denaturing high performance liquid chromatography or direct sequencing. Mutation of BRCA1/2 genes were identified in 65 (8.6%) patients among total 758 patients [BRCA1 mutation: 25 (3.3%), BRCA2 mutation: 40 (5.3%)]. According to risk groups, mutation of BRCA1/2 genes were identified in 53 (8.5%) of 625 early onset patients (age ≤ 40), in 22 (17.7%) of 124 bilateral breast cancer patients, in 3 (50.0%) of 6 breast and ovarian cancer patients, in one (5.9%) of 17 male breast cancer patients, in 5 cases (7.6%) of 66 multiple organ cancer patients. The most common mutation was 509C>A for BRCA1 and 7708C>T for BRCA2. The prevalence of BRCA1/2 mutations by age in early onset patients was significantly different (age <35 vs age ≥35; 10.0 vs 2.9%, p = 0.0007). BRCA1/2 mutations for non-familial Korean breast cancer patients were detected at a high rate, particularly, in patients with early onset of less than 35 years of age, bilateral breast cancer, and breast and ovarian cancer. Individualized genetic counseling should be offered for non-familial breast cancer patients with these risk factors.

The frequencies and spectra of germline mutations in the BRCA1 and BRCA2 genes vary among populations. In the present study, the mutation spectra of the BRCA1/BRCA2 genes in Korean breast cancer patients were investigated using whole-gene sequencing method. A total of 134 unrelated Korean breast cancer patients who were identified as being at high risk of carrying BRCA1/BRCA2 mutations were included. PCR amplification and direct sequencing were performed covering all exons and flanking intronic sequences of the BRCA1/BRCA2 genes. A total of 26 mutations were detected in 31 of 134 patients (23.1%). The mutation detection rate in the present study is higher than those of previous studies using screening methods (2.5-11.3%) and similar to that of a recent study, which used whole-gene sequencing (21.2%). The BRCA2: c.7480C>T mutation, which has been suggested to be a founder mutation in Koreans, was detected in only one patient. Five mutations were recurrent but observed in no more than two patients. Given that the mutation detection rates using whole-gene sequencing were much higher than for screening methods and that there were no consistent observations of founder mutations, whole-gene sequencing of both BRCA1 and BRCA2 genes should be the method of choice to identify mutations in high-risk Korean patients.

Background: Cancer surivors have limited knowledge about second primary cancer (SPC) screening and suboptimal rates of completion of screening practices for SPC. Our objective was to test the efficacy of an educational material on the knowledge, attitudes, and screening practices for SPC among cancer survivors., Methods: Randomized, controlled trial among 326 cancer survivors from 6 oncology care outpatient clinics in Korea. Patients were randomized to an intervention or an attention control group. The intervention was a photo-novel, culturally tailored to increase knowledge about SPC screening. Knowledge and attitudes regarding SPC screening were assessed two weeks after the intervention, and screening practices were assessed after one year., Results: At two weeks post-intervention, the average knowledge score was significantly higher in the intervention compared to the control group (0.81 vs. 0.75, P<0.01), with no significant difference in their attitude scores (2.64 vs. 2.57, P = 0.18). After 1 year of follow-up, the completion rate of all appropriate cancer screening was 47.2% in both intervention and control groups., Conclusion: While the educational material was effective for increasing knowledge of SPC screening, it did not promote cancer screening practice among cancer survivors. More effective interventions are needed to increase SPC screening rates in this population., Trial Registration: ClinicalTrial.gov NCT00948337.

Objectives: Regardless of its negative impact on quality of life, little is known about the importance of alopecia from the patients' perspective. This study aimed to explore the whole experience of chemotherapy- induced alopecia among Korean breast cancer patients including perception, attitudes, preparedness, and changes after alopecia., Methods: Patients expected to experience or had experienced alopecia were recruited at a tertiary hospital in Seoul, Korea. Semi-structured in-depth interviews were performed in 21 patients. Recurrent issues were identified and placed into thematic categories., Results: All patients think that appearance is important and they pay attention to how they look like. They had negative perceptions about alopecia. Patients were not well prepared for alopecia, and experienced substantial physical, psychological and social distress. Lack of information and limited social support combined with negative images of cancer made it difficult for patients to overcome the trauma and deterred them from usual daily activities resulting in poor quality of life., Conclusions: Patients were not well prepared for alopecia and negative perceptions, lack of preparedness, and limited social support and resources increased alopecia- related distress. Educational programs for preparing patients to cope with alopecia distress and advocate activities to change people's negative perception about alopecia are needed to reduce the burden imposed by alopecia in cancer patients.

To investigate clinical, pathological, and familial characteristics of Korean patients with double heterozygosity for BRCA1 and BRCA2 mutations, six breast tumors of five patients who carried deleterious mutations in both of the genes were included. Medical records of the patients were reviewed and genetic testing by direct sequencing was undertaken to detect mutations in BRCA1 and BRCA2. Seven frameshift and three nonsense mutations were identified, and four mutations are novel in the Breast Cancer Information Core. There were no Ashkenazi founder mutations detected. The mean age at diagnosis for breast cancer was 33 years. All six tumors were infiltrating ductal carcinoma and poorly differentiated. Pathologic stage was I or II, and immunohistochemistry showed negative immunoreactivity for estrogen receptor and Her-2/neu in all tumors. Positive immunoreactivity for progesterone receptor was found only in one tumor. Three patients had familial history of breast, ovarian or other cancers. One patient who was diagnosed for breast cancer at the age of 26 had two maternal family members of metachronous bilateral breast cancer. Another patient who experienced metachronous bilateral breast cancer had maternal history of ovarian and esophageal cancer. In summary, Korean patients with double heterozygosity for BRCA1 and BRCA2 were young at diagnosis of breast cancer. Tumors were early stage, high grade, and almost triple-negative phenotype. All familial history of breast, ovary or other cancer was maternal. Close surveillance and accurate risk assessment should be provided for the patients with mutations in the both of the genes.

Background: Angiosarcoma of the breast is rare. The purpose of the present study was to evaluate the clinicopathologic characteristics and the clinical outcomes of patients with primary breast angiosarcoma., Methods: We analyzed the clinicopathologic factors of patients with angiosarcoma of the breast treated between 1997 and 2010 at the Samsung Medical Center. We reviewed the related demographic data, preoperative imaging studies, method of histologic confirmation, tumor size, histologic grades, status of hormonal receptors, treatment modality, and survival data., Results: Nine women with angiosarcoma of the breast were identified. The median age of patients with primary angiosarcoma of the breast at diagnosis was 31 years (range: 19-63 years), and the median tumor size was 9.0 cm (range: 3.5-10.7 cm). Seven patients (77.7%) died within a median follow-up of 46.7 months (range: 3.9-63.3 months), and all deaths were directly attributed to angiosarcoma. Overall, the median time from diagnosis of angiosarcoma to death was 46.8 months (range: 8.21-63.3 months). The 5 year overall survival with angiosarcoma was 42.9%., Conclusions: Primary angiosarcoma of the breast is a rare malignancy with a poor prognosis, even with complete resection. Chemotherapy and radiation therapy have limited value as treatments to date. Total mastectomy appears to be the most appropriate and beneficial treatment. More aggressive surgical management should be considered, and future clinical research should explore the most appropriate adjuvant therapy in the treatment of angiosarcoma.

Background: Knowledge, attitudes, and risk perception in relation to second primary cancer (SPC) screening and their impact on screening practices in cancer survivors are largely unknown., Methods: A total of 326 cancer survivors who had completed primary treatment for cancer >1 year previously were recruited from 6 oncology care outpatient clinics in the Republic of Korea. Survivors' knowledge, attitudes, perceived risk, and screening practices were assessed along with sociodemographic, behavioral, and clinical characteristics. Multivariate logistic regression was used to examine behavioral factors associated with the completion of all appropriate SPC screening according to national guidelines., Results: Approximately 37.7% of survivors had undergone all appropriate SPC screening tests. Survivors were found to have a high perceived risk of SPC, high perceived benefits of screening, and positive attitudes toward cancer screening. However, they had limited knowledge regarding SPC screening tests and few had received a recommendation from a physician to undergo SPC screening. Although there was no association found between perceived risk and positive attitudes with screening behavior, higher knowledge was noted to be significantly associated with the completion of all appropriate SPC screening (adjusted odds ratio, 1.81; 95% confidence interval, 1.03-3.33)., Conclusions: In the current study, cancer survivors were found to have limited knowledge regarding second cancer screening tests, which may have resulted in lower rates of completion of screening practices in this population., (Copyright © 2011 American Cancer Society.)