scholarly journals Analysis of the copy number of the BRCA1, NF-κB1 and PARP1 genes in patients with luminal B breast cancer

Author(s):  
М.М. Цыганов ◽  
М.К. Ибрагимова ◽  
А.М. Певзнер ◽  
Е.Ю. Гарбуков ◽  
К.А. Гаптулбарова ◽  
...  

Целью работы явилась оценка связи хромосомных аберраций генов BRCA1, NF-κB1, PARP1 в опухолевой ткани молочной железы с эффектом химиотерапии и прогнозом заболевания. В исследование включены 85 больных люминальным В раком молочной железы IIA-IIIB стадии, с морфологически верифицированным диагнозом, в возрасте 25-68 лет (47,8±1,1). Было установлено, что наибольшая частота делеций наблюдается в гене BRCA1 (36%, 30 случаев из 85). Частота амплификаций PARP1 в исследуемой группе больных РМЖ достигает 62% (53 случая из 85). Наименьшее число хромосомных аберраций наблюдается в гене NF-κB1, всего у 22 больных наблюдаются делеции и амплификации данного гена (26%). Показано, что делеция гена BRCA1 сопряжена с хорошим ответом на неоадъювантную химиотерапию вне зависимости от наличия хромосомных аберраций других генов. При этом амплификация PARP1 связана с плохим прогнозом заболевания. The aim of the work was to assess the relationship of chromosomal aberrations of the BRCA1, NF-κB1, PARP1 genes in breast tumor tissue with the effect of chemotherapy and prognosis of the disease. The study included 85 patients with luminal stage IIA-IIIB breast cancer, with a morphologically verified diagnosis, aged 25-68 years (47.8±1.1). As a result of the study, the CNA frequency of the studied genes was estimated. It was found that the highest deletion rate is observed in the BRCA1 gene (36%, 30 cases out of 85). The frequency of amplification of PARP1 in the studied group of breast cancer patients reaches 62% (53 cases out of 85). The smallest number of chromosomal aberrations is observed in the NF-κB1 gene; in only 22 patients, deletions and amplifications of this gene are observed (26%). it was found that the deletion of the BRCA1 gene is associated with a good response to neoadjuvant chemotherapy, regardless of the presence of chromosomal aberrations of other genes. Moreover, amplification of PARP1 is associated with a poor prognosis of the disease.

2021 ◽  
pp. 1-5
Author(s):  
Ayu Ratuati Setiawan ◽  
Feny Tunjungsari ◽  
Mochamad Aleq Sander

BACKGROUND: Cancer is a disease caused by abnormal growth of body cells that turn malignant and continue to grow uncontrollably. One of the treatments for breast cancer is mastectomy. The quickness of decision-making determines the survival rate of prognosis patients. OBJECTIVE: This study aimed to determine the relationship of self-acceptance with decision-making duration in cancer patients to perform a mastectomy. METHODS: An analytic observation method with cross-sectional design. The samples were taken by purposive sampling method with 50 samples of breast cancer patients. Data collected include age, last level of education, marital status, profession, stage of cancer during mastectomy, self-acceptance score, and decision-making duration to perform a mastectomy. RESULTS: The data analyzed with the Kruskal–Wallis test. The test showed the relationship of self-acceptance (p = 0.027) with decision-making duration in breast cancer patients to perform a mastectomy. CONCLUSION: In Conclusion, there is a relationship of self-acceptance with decision-making duration in breast cancer patients to perform a mastectomy.


Sainteks ◽  
2020 ◽  
Vol 16 (2) ◽  
Author(s):  
S. Widyaningsih ◽  
A. Istifaraswati

The mental impact of cancer on patients is often severe. Patients who have been recently diagnosed with breast cancer tend to experience depression, emotional stress, disappointment, and even despair which later can damage their psychological well-being. This study aims to describe Psychological Well-being among breast cancer patients.134 breast cancer patients were recruited at the Out Patient Department (OPD) of Tugurejo Hospital Semarang city, Indonesia. The data were collected using Ryff Scale Psychological Well-being (RSPWB) questionnaire. Most of the respondents were middle-aged, married, unemployed and had been diagnosed with early stadium of breast cancer. Results showed approximately half of the total respondents (n=64%, 47.8%) experiencing low levels of psychological well-being over the entire period of the sickness. Among four subscales of psychological well-being, “positive relationship with others” subscale was reported to be very low among those respondents. However, almost two thirds of respondents perceived a higher degree of self-acceptance and life purpose while experiencing the illness. Nurses and healthcare providers need to be aware of the importance of counseling service and family/patients support group to improve the relationship of patients with others.Keywords: psychological well-being, breast cancer


2016 ◽  
Vol 21 (3) ◽  
pp. 122-125
Author(s):  
Nataliya. Yu Tretyakova ◽  
E. V Kotljarov

Aim. The analysis of the relationship of osteoporosis with severity of pain and the improvement of the diagnosis of osteoporosis in breast cancer (BC) patients of the reproductive age. Methods. There were examined 60 women, including 30 BC patients at the age from 30 to 50 years and 30 women of similar age as comparison group. The examination included a blood test for osteocalcin, calcitonin, alkaline phosphatase, parathyroid hormone, thyroid stimulating hormone, calcium and phosphorus. The degree ofpain in BC patients was evaluated according to the McGill Pain Questionnaire and classification of pain. Osteodensitometry was made in all BC patients and cases from the comparison group. These 30 BC patients were examined prior to the appointment of specific treatment and a half year after the performed treatment Results. In the analysis of 30 breast cancer patients of childbearing age in 26 patients the onset of artificial menopause occurred. Pain syndrome prior to the treatment of the underlying disease was determined in 20% of cases. 6 months after treatment of BC pain breast cancer was detected in 70% of patients. Artificial menopause is associated with the delivery of chemotherapy and shutdown of ovarian function. Hormone therapy with tamoxifen was prescribed to 16 BC patients, 5 of them were transferred to second-line hormone therapy due to side effects of antiestrogens. At that the menopause is the basic condition for the appointment of aromatase inhibitors. In the examination of the whole group ofpatients in 63,3% of cases were revealed to have osteopenia and osteoporosis. Conclusion The prevalence rate of osteoporosis in BC patients of reproductive age is directly related to the performed specific treatment when the appointment of the therapy of osteoporosis it is necessary in complex treatment of cancer patients for the its prevention


Sainteks ◽  
2020 ◽  
Vol 16 (2) ◽  
Author(s):  
S. Widyaningsih ◽  
A. Istifaraswati

The mental impact of cancer on patients is often severe. Patients who have been recently diagnosed with breast cancer tend to experience depression, emotional stress, disappointment, and even despair which later can damage their psychological well-being. This study aims to describe Psychological Well-being among breast cancer patients.134 breast cancer patients were recruited at the Out Patient Department (OPD) of Tugurejo Hospital Semarang city, Indonesia. The data were collected using Ryff Scale Psychological Well-being (RSPWB) questionnaire. Most of the respondents were middle-aged, married, unemployed and had been diagnosed with early stadium of breast cancer. Results showed approximately half of the total respondents (n=64%, 47.8%) experiencing low levels of psychological well-being over the entire period of the sickness. Among four subscales of psychological well-being, “positive relationship with others” subscale was reported to be very low among those respondents. However, almost two thirds of respondents perceived a higher degree of self-acceptance and life purpose while experiencing the illness. Nurses and healthcare providers need to be aware of the importance of counseling service and family/patients support group to improve the relationship of patients with others.Keywords: psychological well-being, breast cancer


Gene Reports ◽  
2020 ◽  
Vol 21 ◽  
pp. 100859
Author(s):  
Alina Pevzner ◽  
Matvey Tsyganov ◽  
Marina Ibragimova ◽  
Alexey Zarubin ◽  
Nikolay Litviakov

Author(s):  
А.М. Певзнер ◽  
М.К. Ибрагимова ◽  
М.М. Цыганов

Наши предыдущие исследования показали, что дефицит гена BRCA1, вызванный изменениями в опухоли, такими как низкая экспрессия, делеция, потеря гетерозиготности, может быть связан с эффективностью химиотерапии и прогнозом заболевания. Однако даже при отсутствии этих факторов эффективность терапии таксотером была переменной. Это может быть связано с наличием других соматических изменениий гена BRCA1 в опухолевой ткани, и их определение поможет определить индивидуальную стратегию лечения для каждого пациента с раком молочной железы. Здесь мы исследовали весь спектр герминальных и соматических мутаций кодирующей области генов BRCA1/2 в опухолевой ткани. В целом, наши результаты показывают, что имеет смысл принимать во внимание не только выявленные герминальные мутации, но и соматические изменения в генах BRCA1/2 при назначении терапии. Our previous studies have shown that BRCA1 gene deficiency caused by changes in the tumor such as low expression, deletion, loss of heterozygosity, etc., can be associated with the effectiveness of chemotherapy and the disease prognosis. However, even in the absence of these factors, the effectiveness of taxotere therapy was variable. This may be due to the availability of another BRCA1 gene somatic changes in the tumor tissue and their determination will help to define the personalize treatment strategy for each breast cancer patient. Here we investigated the entire spectrum germline and somatic mutation of coding region of the BRCA1/2 gene in tumor tissue. Overall, our results suggest that it makes sense to take into account not only identified germline mutations, but also somatic changes in the BRCA1/2 gene when appointment taxotere


Open Medicine ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. 450-455
Author(s):  
Halil Taskaynatan ◽  
Ahmet Alacacioglu ◽  
Yuksel Kucukzeybek ◽  
Umut Varol ◽  
Yasar Yildiz ◽  
...  

AbstractBackgroundMean platelet volume (MPV) is a parameter that increases during thrombotic and cardiovascular events. Tamoxifen (Tmx) and aromatase inhibitors (AIs), which are adjuvant endocrine therapies, may cause serious side effects, such as vascular thrombosis. The present study investigated the changes in MPV values of breast cancer patients receiving long-term adjuvant hormone therapy and the relationship of MPV with adverse effects of hormonotherapy.MethodsData of 261 patients who had pathologically confirmed estrogen or progesterone receptor positive invasive breast cancer and had received hormonotherapy for at least a 5-year period were retrospectively analyzed. MPV levels were measured at baseline and at the first and fifth year of hormone therapy.ResultsAll patients were females and their median age was 50 years (range, 27–78 years). The mean MPV value was significantly increased in all patients in the Tmx, AI, and switch groups over time (p<0.001).ConclusionThis is the first study evaluating the relationship between the 5-year adjuvant endocrine therapy and changes in MPV values in breast cancer patients. Monitoring changes in MPV values may be predictive for severe side effects in breast cancer patients receiving hormone therapy.


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