Validation of BRCA mutation-carrier probability model, BRCAPRO, in Japanese.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e12532-e12532
Author(s):  
Masahiro Ito ◽  
Yuri Yasuda ◽  
Akihiko Furuta ◽  
Noriaki Ohuchi
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Positive Predictive Value ◽  
Mutation Carrier ◽  
Predictive Value ◽  
Brca Mutation ◽  
Brca Mutation Carrier ◽  
Mutation Probability ◽  
Sensitivity Specificity

e12532 Background: Genetic testing has not been widely performed in Japan. It is not known whether BRCA mutation-carrier model is useful for selecting eligible person of genetic testing. We studied the validation of BRCAPRO in Japanese. Methods: Twenty-six hundred sixty-five people visited to our hospital between 2011 and 2012.They were surveyed family history as a risk factor of inheriting breast cancer according to NCCN guideline. Among them, those who have a number of family history of breast cancer, ovarian cancer, pancreatic cancer, prostate cancer were selected and in addition, genetic counselor constructed family tree. We also calculated BRCA1/2 mutation probability by BRCAPRO.Those who had more than 10% mutation probability and early onset breast cancer, triple negative breast cancer were received genetic counseling and genetic testing for applicants. We also calculated sensitivity, specificity and predictive value at 10% estimated probability. Results: One hundred five people (3.9%) were selected as a risk of inheriting breast cancer, of which sixty-three people (2.3%) were constructed family tree.The number of people who had more than 10% and 30% mutation probability by BRCAPRO was seven (0.26%) and three (0.11%).Nine people performed BRCA1/2 genetic testing (proband : eight, relative: one)Four people carried a deleterious BRCA mutation (BRCA1: three, BRCA2: one).In the cases which had more than 30% mutation probability, all of them carried a deleterious BRCA mutation. Most of their mutation site was L63X which was most frequent in Japan. Using a 10% cut-off, sensitivity was 75%, specificity was 80%,positive predictive value was 75%. When it comes to the cases which had more than 30% mutation probability, Sensitivity, specificity, positive predictive value were all 100%. Conclusions: Our findings suggest BRCAPRO is useful in Japanese, especially those who have more than 30% mutation probability.

scholarly journals The Effect of Reproductive Factors on Breast Cancer Presentation in Women Who Are BRCA Mutation Carrier

2017 ◽  
Vol 20 (3) ◽  
pp. 279 ◽  
Author(s):  
Ju-Yeon Kim ◽  
Hyeong-Gon Moon ◽  
Young-Joon Kang ◽  
Wonshik Han ◽  
Woo-Chul Noh ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Mutation Carrier ◽  
Brca Mutation ◽  
Reproductive Factors ◽  
Brca Mutation Carrier

ROLE OF MAMMOGRAPHY AND CORE BIOPSY IN THE DIAGNOSIS OF BREAST TUMOR

2017 ◽  
pp. 69-72
Author(s):  
Trong Hung Phan ◽  
Cong Thuan Dang ◽  
Thanh Thao Nguyen
Keyword(s):  
Breast Cancer ◽  
Positive Predictive Value ◽  
Predictive Value ◽  
Breast Tumor ◽  
Core Biopsy ◽  
Breast Tumors ◽  
Breast Disease ◽  
University Hospital ◽  
Sensitivity Specificity

Introduction: Breast tumor is a popular disease. Breast cancer is the most common cancer in women. Mammography is the chosen screening test and ultrasound-guided core-needle biopsy provides (US-CNB) the pathologic result for treatment. Objective: To study the role of mammography and core biopsy in diagnosis of breast tumors. Materials and methodology: Prospective and retrospective study of 33 breast tumors examined mammograms at Hue University Hospital and Hue Central Hospital from 7/2014 to 4/2017. Results: Mean age of breast cancer: 52 years old, of benign breast disease: 53 years old. 86% of all cases admitted to hospital due to self-detecting breast tumor. Locations: 0-3h 33.3%, 9-12h 27.2%. Sensitivity, specificity and accuracy of mammography were 76.9%, 28.6% and 66.7% respectively. Sensitivity, specificity, positive predictive value, negative predictive value, accuracy value of US-CNB were 95.2%, 85.6%, 95.2%, 85.6% and 92.9%, respectively. The value of combined with mammograms and US-CNB has improved the specificity and positive predictive value to 100%, accuracy value to 95.2%. Moreover, this combination discovered 7.1% breast cancer more. Conclusion: US-CNB is a safe and less traumatic diagnostic tool with high pathologic efficiency. Combining mammography and US-CNB increases the diagnostic value. Key words: Breast tumor, breast cancer, mammograms

Impact of breast cancer and BRCA mutations on thoughts and feelings of future pregnancies.

2012 ◽  
Vol 30 (27_suppl) ◽  
pp. 38-38
Author(s):  
Ashley Henriksen Woodson ◽  
Kimberly I. Muse ◽  
Michelle Jackson ◽  
Banu Arun ◽  
Jennifer Keating Litton
Keyword(s):  
Breast Cancer ◽  
Mutation Carrier ◽  
Brca Mutation ◽  
Brca Mutation Carrier ◽  
Brca Mutations ◽  
Premenopausal Breast Cancer ◽  
Future Child ◽  
Future Pregnancy ◽  
Answer Choice ◽  
The Impact

38 Background: Many women diagnosed with premenopausal breast cancer are concerned with treatment-related infertility. Identifying a BRCA mutation associated with hereditary breast and ovarian cancer may affect attitudes regarding future childbearing. We evaluated attitudes regarding the impact of cancer or potentially being a BRCA mutation carrier on future childbearing. Methods: Women with childbearing potential were invited to participate in an IRB-approved questionnaire study administered prior to genetic counseling and after results disclosure, if applicable. Women were provided a series of 15 statements and asked to rate how often they thought about the impact of cancer or of having a BRCA mutation on the ability to conceive or carry a pregnancy on a 4-point scale ranging from not at all to often. Descriptive statistics were used. Results: We received 148 pre-questionnaires and 114 post-questionnaires. Thirteen women tested positive for a BRCA 1 mutation and 5 with a BRCA 2 mutation. The mean age was 35 (range 20-45) with 71% having breast cancer. The majority (62%) had at least 1 biological child prior to diagnosis and 45% desired a future child. Across 15 statements, 57% of women did not have any thoughts or feelings about the impact of cancer or a BRCA mutation on a future pregnancy at initial visit. Across the same 15 statements, 52% of women who tested positive for a BRCA mutation changed their answer from the pre-questionnaire to post-questionnaire. Of these women, 70% thought about the impact more often than they reported initially. When compared to women who tested negative for a BRCA mutation (n=78), only 40% of women changed their answer choice, with 54% thinking about the impact less often. Conclusions: Women testing positive for a BRCA mutation were more likely to have an increase in thoughts and feelings regarding the impact of cancer or of being a BRCA mutation carrier on the ability to have a future pregnancy, while women who tested negative showed a decrease. Therefore, women with a BRCA mutation may be influenced in their decisions regarding future childbearing.

scholarly journals PREDICTION OF PREECLAMPSIA BY WAIST CIRCUMFERENCE AND BY MEAN ARTERIAL PRESSURE

2019 ◽  
Vol 3 (10) ◽  
Author(s):  
Dr. Rujuta Acharya
Keyword(s):  
Mean Arterial Pressure ◽  
Family History ◽  
Waist Circumference ◽  
Arterial Pressure ◽  
Positive Predictive Value ◽  
Medical History ◽  
Negative Predictive Value ◽  
Predictive Value ◽  
History Of ◽  
Sensitivity Specificity

INTRODUCTION:  The early detection of the risk of PE may improve the outcome by increasing patient surveillance or by initiating a therapeutic intervention. After taking family history and medical history of obstetric events, hypertension, renal disease, or thrombophilia can help to stratify the risk of hypertensive disorders of pregnancy and history alone will identify fewer than half the women who later develop pre-eclampsia. Routine screening for specific risk factors for pre-eclampsia  i.e. nullipara, older age, high body mass index (BMI), family history of pre-eclampsia,  multiple pregnancy, more than 10 years between pregnancies, and a personal history of pre-eclampsia is advised. MATERIAL AND METHODS:Detail history of all the participants was taken which comprises of age, parity, and past obstetric complications. Medical history was taken and pregnant ladies. Blood pressure measurement was done by standard mercury sphygmomanometer. Mean arterial pressure was calculated by Burton’s formula. Waist circumference was measured midway between the lowest rib and the iliac crest. Waist circumference of >80 cm was used as a cut off. RESULTS: Majority of the patients who developed pre eclampsia were in the age group of 20 to 25 years (66%).in our study primigravida were 60% who developed pre eclampsia. In our study 40 (20%) had mean arterial pressure >90 mmHg 22 developed preeclampsia while out of 160 (80%) patients having mean arterial pressure <90 mmHg 24 developed preeclampsia. sensitivity, specificity, positive predictive value and negative predictive value was 47.83 %, 88.31 %, 55.00% and 85.00 % respectively.86 women had waist circumference >80 cm out of 80 women 34 developed preeclampsia while 52 were normotensive. Out of 114 women having waist circumference <80 cm 12 developed preeclampsia while 102 remain normotensive with sensitivity, specificity, positive predictive value and negative predictive value of 73.91%, 66.23%, 39.53% and 89.47% respectively. CONCLUSION: Mean arterial pressure is a good predictor of preeclampsia with high specificity and negative predictive value. Waist circumference is a simple, and reproducible method with high negative predictive value.

The impact on case findings by transferring clinical breast examination skills to female community health volunteers in limited resources country like Nepal.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. e11094-e11094
Author(s):  
Sanjiv Kumar Hyoju
Keyword(s):  
Breast Cancer ◽  
Positive Predictive Value ◽  
Predictive Value ◽  
Gold Standard ◽  
Clinical Breast Examination ◽  
Limited Resources ◽  
Breast Examination ◽  
Clinical Breast ◽  
Sensitivity Specificity ◽  
Kappa Agreement

e11094 Background: In limited resources countries, patients with breast cancer present to the hospital in the late stage because of lack of awareness, screening program. Clinical Breast Examination (CBE) may be the only means of detecting the breast cancer early in countries with limited resources since mammography is less likely to be cost effective approach and CBE by surgeons are also not possible because of limited health care facility. Hence CBE by FCHVs seems to be more feasible. This study was conducted to observe the skill transfer to FCHVs for detection of clinical abnormalities in breast by determining kappa agreement, sensitivity, specificity, positive predictive value and negative predictive value of CBE by FCHVs considering CBE by the Surgeon as gold standard. Methods: It is a cross-sectional study conducted in Eastern Nepal for period of one year from June 2008 to May 2009. Total 1238 women were examined by both a FCHV and the Surgeon. The results were analyzed to find out interobserver kappa agreement, sensitivity, specificity, positive predictive value and negative predictive value for detection of clinical abnormalities in breast following CBE by FCHVs considering CBE by the Surgeon as gold standard. Results: Total 1238 women received CBE by both a FCHV and the Surgeon. The interobserver kappa agreement for the detection of clinical abnormalities in breast was 67% indicating a good agreement exists between the FCHVs and the Surgeon’s CBE Sensitivity, specificity, positive predictive value and negative predictive values of “FCHVs’ CBE” to detect clinical abnormalities in breast in comparison to “the Surgeon’s CBE” as gold standard were 70%, 95%, 74% and 94% respectively. Conclusions: In view of good CBE skills transfer to FCHVs for detection of clinical abnormalities in breast, the effective training of FCHVs may diagnose and refer the women with clinical breast abnormalities to the hospital for further investigation and treatment.

scholarly journals Monofrequency electrical impedance mammography (EIM) diagnostic system in breast cancer screening

BMC Cancer ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Blanca Murillo-Ortiz ◽  
Abraham Hernández-Ramírez ◽  
Talia Rivera-Villanueva ◽  
David Suárez-García ◽  
Mario Murguía-Pérez ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Positive Predictive Value ◽  
Negative Predictive Value ◽  
Sensitivity And Specificity ◽  
Predictive Value ◽  
Electrical Impedance ◽  
Screening Method ◽  
Future Research ◽  
Predictive Values ◽  
Sensitivity Specificity

Abstract Background Some evidence has shown that malignant breast tumours have lower electrical impedance than surrounding normal tissues. Electrical impedance could be used as an indicator for breast cancer detection. The purpose of our study was to analyse the sensitivity and specificity of electrical impedance mammography (EIM) and its implementation for the differential diagnosis of pathological lesions of the breast, either alone or in combination with mammography/ultrasound, in 1200 women between 25 and 70 years old. Methods This study is a prospective, cross-sectional epidemiological observational study of serial screening. The women were invited to participate and signed a consent letter. Impedance imaging of the mammary gland was evaluated with the computerized mammography equipment of MEIK electroimpedance v.5.6. (0.5 mA, 50 kHz), developed and manufactured by PKF SIM-Technika®. The successful identification of breast cancer along with the sensitivity, specificity, and positive and negative predictive values of EIM were determined as follows: % sensitivity; % specificity; % positive predictive value (PPV); and % negative predictive value (NPV). Results EIM had a sensitivity of 85% and a specificity of 96%; the positive predictive value was 12%, and the negative predictive value was 99%. Seven cases were biopsy confirmed cancers. Significant correlations between the electrical conductivity index and body mass index (BMI) (p = 0.04) and patient age were observed (p = 0.01). We also observed that the average conductivity distribution increased according to age group (p = 0.001). We used the chi-squared test to assess the interactions between percent density and BMI (normal < 25 kg/m2 (n = 310), overweight 25–29.9 kg/m2 (n = 418) and obese ≥30 (n = 437)) (p <  0.05). The patients with a diagnosis of mammary carcinoma had a BMI of 35.51 kg/m2. Conclusions Our results demonstrate that the use of monofrequency electrical impedance mammography (EIM) in the detection of breast cancer had a sensitivity and specificity of 85 and 96%, respectively. These findings may support future research in the early detection of breast cancer. EIM is a non-radiation method that may also be used as a screening method for young women with dense breasts and a high risk of developing breast cancer.

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