• Asian Pacific Journal of Cancer Prevention
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• 제15권19호
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• pp.8319-8324
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• 2014

Although genetic markers identifying women at an increased risk of developing breast cancer exist, the majority of inherited risk factors remain elusive. Mutations in the BRCA1/BRCA2 gene confer a substantial increase in breast cancer risk, yet routine clinical genetic screening is limited to the coding regions and intronexon boundaries, precluding the identification of mutations in noncoding and untranslated regions. Because 3' untranslated region (3'UTR) polymorphisms disrupting microRNA (miRNA) binding can be functional and can act as genetic markers of cancer risk, we aimed to determine genetic variation in the 3'UTR of BRCA1/BRCA2 in familial and early-onset breast cancer patients with and without mutations in the coding regions of BRCA1/BRCA2 and to identify specific 3'UTR variants that may be risk factors for cancer development. The 3'UTRs of the BRCA1 and BRCA2 genes were screened by heteroduplex analysis and DNA sequencing in 100 patients from 46 BRCA1/2 families, 54 non-BRCA1/2 families, and 47 geographically matched controls. Two polymorphisms were identified. SNPs $c.^*1287C$ >T (rs12516) (BRCA1) and $c.^*105A$ >C (rs15869) (BRCA2) were identified in 27% and 24% of patients, respectively. These 2 variants were also identified in controls with no family history of cancer (23.4% and 23.4%, respectively). In comparison to variations in the 3'UTR region of the BRCA1/2 genes and the BRCA1/2 mutational status in patients, there was a statistically significant relationship between the BRCA1 gene polymorphism $c.^*1287C$ >T (rs12516) and BRCA1 mutations (p=0.035) by Fisher's Exact Test. SNP $c.^*1287C$ >T (rs12516) of the BRCA1 gene may have potential use as a genetic marker of an increased risk of developing breast cancer and likely represents a non-coding sequence variation in BRCA1 that impacts BRCA1 function and leads to increased early-onset and/or familial breast cancer risk in the Turkish population.

• Asian Pacific Journal of Cancer Prevention
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• 제17권8호
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• pp.3897-3901
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• 2016

Background: Breast cancer is by far the most frequent cancer of women (23% of all cancers), ranking second overall when both sexes are considered together. Since there has been change in clinico-pathological factors and treatment profiles for breast cancer patients over the years, the present study to evaluate the change trends in India. Materials and Methods: A detailed analysis was carried out with respect to age, menopausal status, family history, disease stage, surgery performed, histopathology, hormone receptor status, and use of chemotherapy or hormonal therapy. Change in various clinico-pathological factors and treatments of breast cancer cases was recorded and analysed. Results: Mean age at presentation was found to be earlier in 2005-2006 compared with 1997-98 (p value: 0.046). More premenopausal women were diagnosed with breast cancer in 2005-2006 when this was compared with initial years of assessment (p value ${\leq}0.001$). When change in the receptor status was evaluated, we observed that there was a decrease in cases of ER and PR receptor positivity which was significant (p value: 0.007). Over the period of time, more f patients were not offered surgery initially in view of advanced disease when the two time periods were compared (p value: ${\leq}0.001$). There was a significant increase in patients who were initially offered neo-adjuvant chemotherapy in view of advanced disease at presentation (p value: ${\leq}0.001$). There was increasing number of patients who received palliative treatment for symptoms in 2005-2006 when compared to patients treated in 1997-98((p value: ${\leq}0.001$). Conclusions: Changes in mean age at presentation, premenopausal status, and stage at presentation have occurred over the years. More aggressive patterns of disease have become more common with early age at presentation and aggressive biological behaviour with receptor negative tumours.

• Asian Pacific Journal of Cancer Prevention
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• 제13권10호
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• pp.4989-4992
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• 2012

Purpose: Guide-wire localization (GWL) has been a standard technique for many years. Excision of nonpalpable malignant breast lesions with clear surgical margins reduces the risk of undergoing re-excision. The objective of the present study was to evaluate the efficacy of GWL biopsy for assessing surgical margins. Methods: This retrospective study concerned 53 patients who underwent GWL biopsy for non-palpable breast lesions and breast carcinoma diagnosed by histological examination. Age of the patients, tumour size, radiographic findings, breast density specifications, specimen volumes, menopausal status and family history of the patients and surgical margin status were recorded. Results: Median age was 53.3 years, median tumour size was 1.5 cm and median specimen volume was $71.5cm^3$. In fifteen patients (28%) DCIS and in 38 patients (72%) invasive ductal carcinoma was diagnosed. There was positive surgical margins in twenty eight (52.8%) patients. The median distance to the nearest surgical margin was 7.2 mm in clear surgical margins. Younger age and denser breast specifications were found as statistically significant factors for surgical margin status. Median age of the patients who had positive margins was 49.4 years where it was 56.9 years in the patients with negative margins (p=0.04). 79% of the patients with positive margins had type 3-4 pattern breast density according to BIRADS classification as compared to 48% in the patients who had negative margins (p=0.03). Some 38 patients who had positive or close surgical margins received re-excision (72%). Conclusion: Positive margin rates may be higher because of inherent biological differences and diffuse growth patterns in younger patients. There are also technical difficulties that are relevant to denser fibroglandular tissue in placing hooked wire. High re-excision rates must be taken into consideration while performing GWL biopsy in non-palpable breast lesions.

• Journal of Nutrition and Health
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• 제40권4호
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• pp.334-346
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• 2007

본 연구에서는 대구${\cdot}$경북 지역의 103명의 유방암 환자 와 159명의 대조군을 대상으로 생식적 특성과 식품섭취패턴이 유방암 위험에 미치는 영향을 분석하였다. 조사는 설문지와 식품섭취빈도조사지, 개인 면담을 통하여 실시하였다. 식품섭취패턴에 따른 유방암의 상대적 위험도는 일반특성과 생식특성에서 환자군과 대조군간에 유의한 차이를 보인 요인들을 혼란변수로 통제한 후 산출되었다. 본 연구의 결과 유방암 환자군의 평균 BMI는 대조군에 비해 유의적으로 높았으며 이 차이는 특히 폐경 후 여성에서 현저하였다. 환자군은 유방암 가족력이 유의하게 높았으며 유산경험이 유의적으로 많았고, 모유수유 경험과 총 모유수유기간이 유의적으로 낮았다. 경구피임약과 호르몬 대체요법 등의 외인성 호르몬의 사용과 유방암 사이에는 유의적인 관련성이 나타나지 않았다. 식품섭취패턴과 관련하여서는 찜조리 선호군에 비해 튀김, 구이 조리 선호군에서 위험도가 유의적으로 높게 나타났다. 과일류와 해조류의 섭취 빈도가 높을수록 상대적 위험도가 유의적으로 낮았고, 녹황색 및 담색 채소류와 콩류는 섭취빈도가 많을수록 위험도가 낮은 경향을 보였지만 유의적인 결과는 아니었다. 생선류, 육류, 유지류, 유제품류의 섭취빈도에 따른 위험도의 관련성은 나타나지 않았으며, 녹차 커피의 경우는 일주에 2${\sim}$3회 섭취가 위험도를 낮추는 경향을 보였다. 본 연구의 결과 유방암의 위험과 관련된 요인으로는 높은 BMI, 유방암 가족력, 높은 유산 경험과 낮은 모유수유 경험, 짧은 모유수유 기간으로 나타났고, 식품섭취관련 인자로는 튀김 및 볶음, 구이 등의 조리법 선호와 과일과 해조류의 낮은 섭취 빈도가 위험요인으로 나타났다.

• Korean Journal of Radiology
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• 제24권4호
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• pp.274-283
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• 2023

Objective: To compare the outcomes of digital breast tomosynthesis (DBT) screening combined with ultrasound (US) with those of digital mammography (DM) combined with US in women with dense breasts. Materials and Methods: A retrospective database search identified consecutive asymptomatic women with dense breasts who underwent breast cancer screening with DBT or DM and whole-breast US simultaneously between June 2016 and July 2019. Women who underwent DBT + US (DBT cohort) and DM + US (DM cohort) were matched using 1:2 ratio according to mammographic density, age, menopausal status, hormone replacement therapy, and a family history of breast cancer. The cancer detection rate (CDR) per 1000 screening examinations, abnormal interpretation rate (AIR), sensitivity, and specificity were compared. Results: A total of 863 women in the DBT cohort were matched with 1726 women in the DM cohort (median age, 53 years; interquartile range, 40-78 years) and 26 breast cancers (9 in the DBT cohort and 17 in the DM cohort) were identified. The DBT and DM cohorts showed comparable CDR (10.4 [9 of 863; 95% confidence interval {CI}: 4.8-19.7] vs. 9.8 [17 of 1726; 95% CI: 5.7-15.7] per 1000 examinations, respectively; P = 0.889). DBT cohort showed a higher AIR than the DM cohort (31.6% [273 of 863; 95% CI: 28.5%-34.9%] vs. 22.4% [387 of 1726; 95% CI: 20.5%-24.5%]; P < 0.001). The sensitivity for both cohorts was 100%. In women with negative findings on DBT or DM, supplemental US yielded similar CDRs in both DBT and DM cohorts (4.0 vs. 3.3 per 1000 examinations, respectively; P = 0.803) and higher AIR in the DBT cohort (24.8% [188 of 758; 95% CI: 21.8%-28.0%] vs. 16.9% [257 of 1516; 95% CI: 15.1%-18.9%; P < 0.001). Conclusion: DBT screening combined with US showed comparable CDR but lower specificity than DM screening combined with US in women with dense breasts.

• Asian Pacific Journal of Cancer Prevention
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• 제16권11호
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• pp.4699-4704
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• 2015

Medical diagnostic X-ray workers are one occupational group that expose to the long-term low-dose external radiation over their working lifetime, and they may under risk of different cancers. This study aims to determine the relationship between the occupational X-ray radiation exposure and cancer risk among these workers in Jiangsu, China. We conducted Nested case-control study to investigate the occupational X-ray radiation exposure and cancer risk. Data were collected through self-administered questionnaire, which includes but not limits to demographic data, personal behaviors and family history of cancer. Retrospective dose reconstruction was conducted to estimate the cumulative doses of the x-ray workers. Inferential statistics, t-test and 2 tests were used to compare the differences between each group. We used the logistic regression model to calculate the odds ratio (OR) and 95% confidence interval (CI) of cancer by adjusting the age, gender. All 34 breast cancer cases and 45 esophageal cancer cases that detected in a cohort conducted among health workers between 1950~2011 were included in this presented study, and 158 cancer-free controls were selected by frequency-matched (1:2). Our study found that the occupational radiation exposure was associated with a significantly increased cancer risk compared with the control, especially in breast cancer and esophageal cancer (adjusted OR=2.90, 95% CI: 1.19-7.04 for breast cancer; OR=4.19, 95% CI: 1.87-9.38 for esophageal cancer, and OR=3.43, 95% CI: 1.92-6.12 for total cancer, respectively). The occupational X-ray radiation exposure was associated with increasing cancer risk, which indicates that proper intervention and prevention strategies may be needed in order to bring down the occupational cancer risk.

• Asian Pacific Journal of Cancer Prevention
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• 제15권18호
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• pp.7589-7595
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• 2014

Apurinic/apyrimidinic endonuclease 1 (APEX1) is a multifunctional protein which plays a central role in the BER pathway. APEX1 gene being highly polymorphic in cancer patients and has been indicated to have a contributive role in Apurinic/apyrimidinic (AP) site accumulation in DNA and consequently an increased risk of cancer development. In this case-control study, all exons of the APEX1 gene and its exon/intron boundaries were amplified in 530 breast cancer patients and 395 matched healthy controls and then analyzed by single-stranded conformational polymorphism followed by sequencing. Sequence analysis revealed fourteen heterozygous mutations, seven 5'UTR, one 3'UTR, two intronic and four missense. Among identified mutations one 5'UTR (rs41561214), one 3'UTR (rs17112002) and one missense mutation (Ser129Arg, Mahjabeen et al., 2013) had already been reported while the remaining eleven mutations. Six novel mutations (g.20923366T>G, g.20923435G>A, g.20923462G>A, g.20923516G>A, 20923539G>A, g.20923529C>T) were observed in 5'UTR region, two (g.20923585T>G, g.20923589T>G) in intron1 and three missense (Glu101Lys, Ala121Pro, Ser123Trp) in exon 4. Frequencues of 5'UTR mutations; g.20923366T>G, g.20923435G>A and 3'UTR (rs17112002) were calculated as 0.13, 0.1 and 0.1 respectively. Whereas, the frequency of missense mutations Glu101Lys, Ser123Trp and Ser129Arg was calculated as 0.05. A significant association was observed between APEX1 mutations and increased breast cancer by ~9 fold (OR=8.68, 95%CI=2.64 to 28.5) with g.20923435G>A (5'UTR), ~13 fold (OR= 12.6, 95%CI=3.01 to 53.0) with g.20923539G>A (5'UTR) and~5 fold increase with three missense mutations [Glu101Lys (OR=4.82, 95%CI=1.97 to 11.80), Ser123Trp (OR=4.62, 95%CI=1.7 to 12.19), Ser129Arg (OR=4.86, 95%CI=1.43 to 16.53)]. The incidence of observed mutations was found higher in patients with family history and with early menopause. In conclusion, our study demonstrates a significant association between germ line APEX1 mutations and breast cancer patients in the Pakistani population.

• Radiation Oncology Journal
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• 제26권1호
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• pp.65-73
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• 2008

목적: 40세 이하의 젊은 여성 유방암 환자는 나이 든 여성 보다 BRCA1과 BRCA2 배선돌연변이의 빈도가 상대적으로 높다. 유방암 가족력이 있거나 젊은 나이에 유방암을 진단받은 백인 여성들의 BRCA1/2 돌연변이 암에 대한 연구에서 면역조직화학적으로 BRCA1/2 돌연변이 음성인 암과 다른 특성이 발견되었다. 이 연구의 목적은 유방암 가족력과 관계없이 젊은 나이에 유방암이 발생한 한국 여성을 대상으로 BRCA1/2 돌연변이 유뮤에 따라, 그리고 BRCA1과 BRCA2 각각의 돌연변이에 따라 면역조직화학적 특성으로 상호간의 구별이 가능한지, 면역조직화학적 검사로 BRCA1/2 돌연변이의 가능성을 알아보는 것이 가능한지를 조사하는데 있으며 BRCA와 관련된 암의 예후인자로서의 역할도 분석하였다. 대상 및 방법: BRCA1/2 검사를 시행한 40세 이하의 한국인 젊은 여성 유방암 환자의 유방암 수술 후 병리조직을 찾아서 조직미세배열법으로 슬라이드를 만들었다. 이 검체들의 병리조직, 등급, 림프절 전이, T 병기, 에스트로겐 수용체, 프로게스테론 수용체 및 HER-2 상태와 BRCA1/2의 관계를 비교하였다. 그리고 이 환자들의 BRCA 돌연변이 상태와 면역조직학적, 병리학적 상태와 예후 인자로서의 역할도 조사하였다. 결과: BRCA1/2 돌연변이를 조사한 101명 중 14명에서 16개의 돌연변이가 있었으며(13.9%), 유방암-난소암 가족력이 있는 경우(4/14, 28.6%), 양측성 유방암이 있는 경우(3/9, 33.3%)에 BRCA1/2 돌연변이 빈도가 높았다. 에스트로겐 수용체 음성인 경우 BRCA1/2 양성이 19.4%(12/62)로 에스트로겐 수용체 양성 비율 5.1%(2/37)에 비해 유의하게 높았고(p=0.038), HER-2 음성인 경우 BRCA1/2 돌연변이 음성 비율이 16.5%(13/79)로 양성 비율 4.5%(1/22)에 비해 높은 경향을 보였으며(p=0.073), 프로게스테론 수용체는 차이가 없었다. 에스트로겐 수용체, 프로게스테론 수용체 및 HER-2 모두 음성인 경우(triple negative)는 BRCA1/2 돌연변이 비율이 24.2%(8/33)로 매우 높았다. 종양의 크기, 림프절 전이 상태, HER-2 상태는 단변량 변수와 다변량 변수 모두에서 무병 생존에 유의한 영향을 미치는 인자 이었으나 BRCA1/2 돌연변이 상태는 무병생존에 유의한 인자가 아니었다. 결론: 면역조직화학적으로 에스트로겐 수용체나 HER-2 음성을 보이는 젊은 유방암 환자에서 BRCA1/2 돌연변이 발생이 유의하게 높았으며, 프로게스테론 수용체까지 모두 음성인 경우 BRCA1/2 돌연변이가 있을 확률이 24.2%로 높아서 유방암 유전자 돌연변이 가능성을 예측하는데 도움을 줄 수 있다. 한국인 젊은 여성 유방암 환자에서 BRCA1/2 돌연변이 상태가 무병생존에 유의한 인자는 아니었으나 좀 더 많은 환자와 긴 추적관찰 기간의 추가적인 연구가 필요하다.

• 지역사회간호학회지
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• 제14권3호
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• pp.496-506
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• 2003

The purpose of this study is to analyze the affecting factors on breast self-examination of middle-aged women in Korea. The subjects were 141 women on Jeju Island, and materials were collected through an organized questionnaire from March to August 2002. The data were analyzed by using descriptive statistics, $x^2$-test. A-nova and Discriminant analysis by the SAS program. The major results are as follows: 1. 53% of the subjects performed the breast self-examination. The practice of breast self-examination was correlated with the education level, income, low salt diet, more than 30 minutes of regular exercise. 2. Attitudes towards breast self-examination were not a significant practice regarding breast self-examination. However, the cognition about difficulty of breast self-examination partly showed an important barrier factor to the positive attitude. 3. The average self-efficacy concerning breast self-examination was 3.03. The stages of change related to the subjects showed that a contemplation stage was high. 4. With a stepwise multiple regression, the most significant factor on self-efficacy related with breast self-examination was the contemplation stage, 30-40 aged women. high income, regular exercise, low salt diet, family cancer history, etc. 5. With the discriminant analysis, the most important factors related with the practice of the breast self-examination were income and self-efficacy. The power of discriminant was 59%. The results of this study suggests that programs should be developed to promote practice and the self-efficacy related with breast self-examination.

• 한국방사선학회논문지
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• 제17권7호
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• pp.1067-1073
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• 2023

유방암은 현대 여성들에게 가장 많이 발생하는 3대 암 중 하나로, 발생률이 급격하게 증가하고 있다. 가족력이 높고, 15% 정도의 사망률이 있어 고위험군에 속하므로 조기 검진 후 꾸준한 관리가 필요하다. 암을 진단할 수 있는 여러 장비 중 초음파는 위험성이 적고, 실시간으로 진단할 수 있다는 장점이 있다. 그러나 초음파 검사는 검사자의 기술에 따라 결과가 크게 달라진다. 이를 보완하기 위해 모션트래킹 기술을 접목하고자 한다. 모션트래킹은 삼차원의 공간에서 대상의 움직임에 따라 위치를 특정하고 분석하는 기술이다. 그렇기에 실시간 제어가 가능하고, 복잡하고 빠른 움직임도 실시간으로 기록할 수 있는 장점이 있다. 이러한 장점을 활용한 초음파 검사용 이미지 가이드 시스템 제작을 목표로 하였다. 이를 위해서 초음파스캐너의 위치를 3차원적으로 추정할 수 있는 자체 제작 완드(wand)를 설계하였고, 제작된 완드를 기반으로 초음파 영상의 위치를 추정하는 벡터 연산 알고리즘을 개발하였다. 이후, 연속 촬영을 통하여 3차원 공간에서 프로브의 위치와 초음파 영상의 위치를 나타내는 것까지 완료하였다. 이러한 실험은 Optitrack 사의 Primex 41 카메라를 초당 120 frame (Hz)으로 영상을 획득하며, 성공적으로 초음파 영상의 3차원 위치를 추정할 수 있었다. 이 실험 과정을 통해 초음파 검사와 모션트래킹의 접목으로 가이드 제작의 가능성을 확인하였다. 차후 추가적인 연구를 통해 초음파 검사 가이드를 제작하여 검사자의 기술과 상관없이 질 좋은 영상을 획득할 수 있기를 바란다.