scholarly journals Detection of Hypermethylation BRCA1/2 Gene Promotor in Breast Tumors Among Moroccan Women

2021 ◽  
Author(s):  
Imane Saif ◽  
Amal Bouziyane ◽  
Mustapha Benhessou ◽  
Mohamed El karroumi ◽  
Moulay Mustapha Ennaji
Keyword(s):  
Breast Cancer ◽  
Gene Expression Regulation ◽  
Cell Cancer ◽  
Breast Tumors ◽  
Tumor Stage ◽  
Epigenetic Factor ◽  
Promoter Gene ◽  
Gene Promotor ◽  
Moroccan Women ◽  
The Impact

Abstract Background: The promoter region is a key element of gene expression regulation. In mammals, most of the genes present, at the level of their promoter, a large number of islands CpG. Age is seen as another factor promoting breast cell cancer and the tumor stage. Aim: this study aimed to explore the hypermethylation of the BRCA1/2 promoter gene in breast cancer women and correlation with age and tumor stage.Materials and methods: fifty biopsies were derived from Moroccan women treated for breast carcinoma, the DNA extracted was treated by bisulphite and the targeted BRCA1/2 Amplicons were amplified by specific methylation primers (MSP). Results: the result shows that 62% of the samples were BRCA1 methylated in addition and negative result for BRCA2, these positive epigenetic factor were remarkable in women over 47 years and at the stage of malignant tumor.Conclusion: these results show that half of the methylated samples are positive and the majority are over 47 years old, and confirms the impact of age on methylation and might be other factor of breast cancer development.

scholarly journals Impact of Primary Care Delay on Progression of Breast Cancer in a Black African Population: A Multicentered Survey

2019 ◽  
Vol 2019 ◽  
pp. 1-10
Author(s):  
Olayide Agodirin ◽  
Samuel Olatoke ◽  
Ganiyu Rahman ◽  
Julius Olaogun ◽  
Oladapo Kolawole ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Primary Care ◽  
Cancer Progression ◽  
Clustering Analysis ◽  
Short Interval ◽  
Tumor Stage ◽  
Stage Migration ◽  
Patient Journey ◽  
Low Middle Income Countries ◽  
The Impact

Background. Reports are scanty on the impact of long primary care interval in breast cancer. Exploratory reports in Nigeria and other low-middle-income countries suggest detrimental impact. The primary aim was to describe the impact of long primary care interval on breast cancer progression, and the secondary aim was to describe the factors perceived by patients as the reason(s) for long intervals. Method. Questionnaire-based survey was used in 9 Nigerian tertiary institutions between May 2017 and July 2018. The study hypothesis was that the majority of patients stayed >30 days, and the majority experienced stage migration in primary care interval. Assessment of the impact of the length of interval on tumor stage was done by survival analysis technique, and clustering analysis was used to find subgroups of the patient journey. Results. A total of 237 patients presented to primary care personnel with tumor ≤5cm (mean 3.4±1.2cm). A total of 151 (69.3%, 95% CI 62.0-75.0) stayed >30 days in primary care interval. Risk of stage migration in primary care interval was 49.3% (95% CI 42.5%-56.3%). The most common reasons for long intervals were symptom misinformation and misdiagnosis. Clustering analysis showed 4 clusters of patients’ experience and journey: long interval due to distance, long interval due to misinformation, long interval due to deliberate delaying, and not short interval—prepared for treatment. Conclusion. The majority of patients stayed longer than 30 days in primary care interval. Long primary care interval was associated with a higher risk of stage migration, and more patients reported misinformation and misdiagnosis as reasons for a long interval.

Impact of mammographic screening in staging, treatment and prognosis of breast cancer: Early assessment

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 10537-10537
Author(s):  
A. Lluch ◽  
I. Chirivella ◽  
A. Insa ◽  
F. Martinez-Ruiz ◽  
A. Santaballa ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Carcinoma ◽  
Cancer Patients ◽  
Breast Conserving Surgery ◽  
Tumor Stage ◽  
Mammographic Screening ◽  
Invasive Breast Carcinoma ◽  
Breast Cancer Patients ◽  
Early Assessment ◽  
The Impact

10537 Background: The use of breast cancer mammographic screening (MS) leads to early detection and has been shown to reduce the mortality rate and to increase the proportion of breast-conserving surgery. The aim of this study is to analyze the impact of mammography in the staging, treatment and prognosis of breast carcinoma. Methods: In 1993, a population-based mammographic screening among women aged from 45 to 70 years was introduced in the community of Valencia. We examined the effects of this MS program by the comparison of two populations. The first one included all the women with screen-detected invasive breast carcinoma between 1993 and 2002 in the community of Valencia. The second one was comprised of all the women with invasive breast carcinoma, diagnosed in the same period, aged 45–70, not attending the MS and treated at H. Clinico of Valencia. Results: Between January, 1993 and December, 2002, 2313 new invasive breast cancer patients were detected by the MS program in the community of Valencia, and 1349 women aged 45–70, not attending de MS were diagnosed with invasive breast carcinoma in H.Clinico of Valencia. The median follow-up period was 45.5 months for the screen-detected breast cancer and 51.9 months for not screen-detected patients. The screen-detected tumors had smaller pathological size (pT1 tumors 70.2% vs 40.5%, p < 0.0001), were more likely to have pathologically confirmed negative nodal status (66.4% vs 52.2%, p < 0.0001) and stage I disease (55.3% vs 26.1%, p < 0.0001). Breast-conserving surgery was performed in 50.4% of patients with screen-detected tumors and in 31.9% of women who had not undergone MS (p < 0.0001). The 5-year estimated survival was 95.5% (SE 0.57) for women with screen-detected breast cancer and 85.5% (SE 1.17) for those with not screen-detected tumors (p < 0.0001). Conclusions: Our data demonstrate a better prognosis in terms of 5-year survival in screen-detected breast cancer patients that may explain why breast carcinoma mortality rates have decreased in recent decades. These patients have also been found to have smaller tumors, a more favorable tumor stage and a higher proportion of breast-conserving surgery. No significant financial relationships to disclose.

scholarly journals Obesity and menopause modify the epigenomic profile of breast cancer

2017 ◽  
pp. 351-363 ◽  
Author(s):  
Ana B Crujeiras ◽  
Angel Diaz-Lagares ◽  
Olafur A Stefansson ◽  
Manuel Macias-Gonzalez ◽  
Juan Sandoval ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Methylation ◽  
High Risk ◽  
Risk Group ◽  
Menopausal Status ◽  
Breast Tumors ◽  
Methylation Pattern ◽  
High Risk Group ◽  
Cpg Sites ◽  
The Impact

Obesity is a high risk factor for breast cancer. This relationship could be marked by a specific methylome. The current work was aimed to explore the impact of obesity and menopausal status on variation in breast cancer methylomes. Data from Infinium 450K array-based methylomes of 64 breast tumors were coupled with information on BMI and menopausal status. Additionally, DNA methylation results were validated in 18 non-tumor and 81 tumor breast samples. Breast tumors arising in either pre- or postmenopausal women stratified by BMI or menopausal status alone were not associated with a specific DNA methylation pattern. Intriguingly, the DNA methylation pattern identified in association with the high-risk group (postmenopausal women with high BMI (>25) and premenopausal women with normal or low BMI < 25) exclusively characterized by hypermethylation of 1287 CpG sites as compared with the low-risk group. These CpG sites included the promoter region of fourteen protein-coding genes of which CpG methylation over the ZNF577 promoter region represents the top scoring associated event. In an independent cohort, the ZNF577 promoter methylation remained statistically significant in association with the high-risk group. Additionally, the impact of ZNF577 promoter methylation on mRNA expression levels was demonstrated in breast cancer cell lines after treatment with a demethylating agent (5-azacytidine). In conclusion, the epigenome of breast tumors is affected by a complex interaction between BMI and menopausal status. The ZNF577 methylation quantification is clearly relevant for the development of novel biomarkers of precision therapy in breast cancer.

scholarly journals The impact of COVID-19 pandemic on the rate of newly diagnosed gynecological and breast cancers: a tertiary center perspective

2021 ◽  
Author(s):  
Katharina Knoll ◽  
Elisabeth Reiser ◽  
Katharina Leitner ◽  
Johanna Kögl ◽  
Christoph Ebner ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Gynecological Cancer ◽  
Performance Status ◽  
Tumor Stage ◽  
Breast Cancers ◽  
Newly Diagnosed ◽  
Breast Cancer Patients ◽  
Tertiary Center ◽  
The Impact

Abstract Purpose The aim of the present study was to assess the impact of postponed screening examinations and lockdown measures on gynecological and breast cancer diagnoses throughout the year 2020 in a gynecological oncological center in Austria. Methods Data of 889 patients with either newly diagnosed gynecological or breast cancer between January 2019 and December 2020 were collected. Clinical parameters including symptoms, performance status, comorbidities and referral status were compared in patients, who were newly diagnosed with cancer in the period of the first lockdown from March 2020 to April 2020 and the second lockdown from November 2020 to December 2020 and compared to the same period in 2019. Results Our results showed a strong decline in newly diagnosed cancers during the lockdown periods: −45% in gynecological cancer and -52% in breast cancer compared to the same period in 2019. Compared to the analogue period of 2019, breast cancer patients reported significantly more tumor-associated symptoms (55% vs. 31%, p = 0.013) during and in between (48% vs. 32%, p = 0.022) the lockdowns. During the lockdown, periods in the group of breast cancer patients’ tumor stage varied significantly compared to 2019 (T2–T4; p = 0.047). Conclusion Both lockdowns led to a strong decrease in newly diagnosed gynecological and breast cancers. Treatment delays in potentially curable disease could lead to inferior clinical outcomes, with the risk of missing the optimal treatment window. As the COVID-19 pandemic will be a challenge for some time to come, new strategies in patient care are needed to optimize cancer screening and management during the pandemic.

scholarly journals Intra-tumor heterogeneity defines treatment-resistant HER2+ breast tumors

2018 ◽  
Author(s):  
Inga H. Rye ◽  
Anne Trinh ◽  
Anna Sætersdal ◽  
Daniel Nebdal ◽  
Ole Christian Lingjærde ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Protein Expression ◽  
Copy Number ◽  
Tumor Heterogeneity ◽  
Breast Tumors ◽  
Gene Copy ◽  
Tumor Evolution ◽  
Her2 Breast Cancer ◽  
The Impact

AbstractTargeted therapy for patients with HER2 positive (HER2+) breast cancer has improved the overall survival, but many patients still suffer relapse and death of the disease. Intra-tumor heterogeneity of both estrogen receptor (ER) and HER2 expression has been proposed to play a key role in treatment failure, but little work has been done to comprehensively study this heterogeneity at the single-cell level.In this study, we explored the clinical impact of intra-tumor heterogeneity of ER protein expression, HER2 protein expression, and HER2 gene copy number alterations. Using combined immunofluorescence and in situ hybridization on tissue sections followed by a validated computational approach, we analyzed more than 13,000 single tumor cells across 37 HER2+ breast tumors. The samples were taken both before and after neoadjuvant chemotherapy plus HER2-targeted treatment, enabling us to study tumor evolution as well.We found that intra-tumor heterogeneity for HER2 copy number varied substantially between patient samples. Highly heterogeneous tumors were associated with significantly shorter disease-free survival and fewer long-term survivors. Patients for which HER2 characteristics did not change during treatment had a significantly worse outcome.This work shows the impact of intra-tumor heterogeneity in molecular diagnostics for treatment selection in HER2+ breast cancer patients and the power of computational scoring methods to evaluate in situ molecular markers in tissue biopsies.

Evaluation of the clinical utility of kallikrein-related peptidase 6 gene (KLK6) downregulation in breast cancer.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 10606-10606 ◽  
Author(s):  
Kleita Michaelidou ◽  
Alexandros Tzovaras ◽  
Nikolaos Tsoukalas ◽  
Konstantinos Mavridis ◽  
Grecory Tsoukalas ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Tumor Progression ◽  
Breast Tissue ◽  
Public Health Problem ◽  
Breast Tumors ◽  
Tumor Stage ◽  
Cancer Biomarker ◽  
Negative Association ◽  
Mrna Levels ◽  
Female Population

10606 Background: Breast cancer (BC), the most common malignancy among the female population, remains a crucial public health problem. The identification and exploitation of novel molecular biomarkers can contribute in the multidimensional approach which is required for optimal management of BC patients. The abnormal expression of several KLK members has been documented for breast cancer. Interestingly, many of these genes are found to be potential prognostic markers for this malignancy. KLK6 expression is positively associated with tumor progression in various human malignancies; however in breast cancer, it can restrain tumor progression. We therefore sought to investigate the possible clinical value of KLK6 as a breast cancer biomarker. Methods: Total RNA was isolated from 107 breast tumors and their matched normal compartments. After testing the quality of the extracted RNA, cDNA was prepared by reverse transcription. Quantitative Real-time PCR was performed, for KLK6 mRNA quantification, using the SYBR Green chemistry. Relative quantification analysis was made using the comparative Ct (2-ΔΔCT) method. HPRT1 was used as an endogenous control gene and BT-474 breast cancer cell line served as a calibrator. Results: KLK6 mRNA levels were significantly downregulated in the cancerous breast tissue specimens compared to their normal counterparts (p<0.001). Additionally, a negative association was observed between KLK6 expression status and tumor stage, given the fact that 54.2% of less advanced breast tumors (TNM stage≤ T2a) were KLK6-positive compared to the 34.6% of more advanced-stage tumors (TNM >T2a) (p=0.034). Moreover, a statistically significant negative correlation was documented between KLK6 mRNA levels and estrogen (p<0.001) and progesterone receptor (p=0.003) statuses. Conclusions: The downregulation of KLK6 in cancerous compared to normal sections of breast tissue samples reflects the reported tumor suppressor properties of KLK6 gene in breast malignancies. Furthermore, the negative association of KLK6 mRNA expression with tumor stage, ER and PR statuses reveals the putative role of KLK6 as a promising prognostic breast cancer biomarker.

Learning Health System for Breast Cancer: Pilot Project Experience

2019 ◽  
pp. 1-11 ◽  
Author(s):  
Mark N. Levine ◽  
Gordon Alexander ◽  
Arani Sathiyapalan ◽  
Anjali Agrawal ◽  
Greg Pond
Keyword(s):  
Breast Cancer ◽  
Language Processing ◽  
Gold Standard ◽  
Pilot Project ◽  
Tumor Stage ◽  
Stage Iii ◽  
Patient Journey ◽  
Clinical Text ◽  
Stage Iii Breast Cancer ◽  
The Impact

PURPOSE Clinicians need accurate and timely information on the impact of treatments on patient outcomes. The electronic health record (EHR) offers the potential for insight into real-world patient experiences and outcomes, but it is difficult to tap into. Our goal was to apply artificial intelligence technology to the EHR to characterize the clinical course of patients with stage III breast cancer. PATIENTS AND METHODS Data from patients with stage III breast cancer who presented between 2013 and 2015 were extracted from the EHR, de-identified, and imported into the IBM Cloud. Specialized natural language processing (NLP) annotators were developed to extract medical concepts from unstructured clinical text and transform them to structured attributes. In the validation phase, these annotators were applied to 19 additional patients with stage III breast cancer from the same period. The resulting data were compared with that in the medical chart (gold standard) for nine key indicators. RESULTS Information was extracted for 50 patients, including tumor stage (94% stage IIIA, 6% stage IIIB), age (28% 50 years or younger, 52% between 51 and 70 years, and 24% older than 70 years), receptor status (84% estrogen receptor positive, 74% progesterone receptor positive), and first treatment (72% surgery, 26% chemotherapy, 2% endocrine). Events in the patient’s journey were compiled to create a timeline. For 171 data elements, NLP and the chart disagreed for 41 (24%; 95% CI, 17.8% to 31.1%). With additional manipulation using simple logic, the disagreement was reduced to six elements (3.5%; 95% CI, 1.3% to 7.5%; F1 statistic, 0.9694). CONCLUSION It is possible to extract, read, and combine data from the EHR to view the patient journey. The agreement between NLP and the gold standard was high, which supports validity.

scholarly journals A novel histone H4 variant H4G regulates rDNA transcription in breast cancer

2019 ◽  
Vol 47 (16) ◽  
pp. 8399-8409 ◽  
Author(s):  
Mengping Long ◽  
Xulun Sun ◽  
Wenjin Shi ◽  
An Yanru ◽  
Sophia T C Leung ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cell Cycle Progression ◽  
Gene Expression Regulation ◽  
Alpha Helix ◽  
Cell Types ◽  
Tumor Stage ◽  
Histone Variants ◽  
Histone H4 ◽  
Breast Cancer Patients ◽  
Rdna Transcription

AbstractHistone variants, present in various cell types and tissues, are known to exhibit different functions. For example, histone H3.3 and H2A.Z are both involved in gene expression regulation, whereas H2A.X is a specific variant that responds to DNA double-strand breaks. In this study, we characterized H4G, a novel hominidae-specific histone H4 variant. We found that H4G is expressed in a variety of human cell lines and exhibit tumor-stage dependent overexpression in tissues from breast cancer patients. We found that H4G localized primarily to the nucleoli of the cell nucleus. This localization was controlled by the interaction of the alpha-helix 3 of the histone fold motif with a histone chaperone, nucleophosmin 1. In addition, we found that modulating H4G expression affects rRNA expression levels, protein synthesis rates and cell-cycle progression. Our data suggest that H4G expression alters nucleolar chromatin in a way that enhances rDNA transcription in breast cancer tissues.

The impact of HER2 phenotype of circulating tumor cells in metastatic breast cancer: a study in 107 patients

2014 ◽  
Vol 74 (S 01) ◽  
Author(s):  
M Wallwiener ◽  
AD Hartkopf ◽  
S Riethdorf ◽  
J Nees ◽  
FA Taran ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Metastatic Breast Cancer ◽  
Tumor Cells ◽  
Circulating Tumor Cells ◽  
Metastatic Breast ◽  
The Impact

First experience with MRI-guided vacuum aspirated breast biopsy

2020 ◽  
pp. 25-31
Author(s):  
M. L. Mazo ◽  
O. E. Jacobs ◽  
O. S. Puchkova ◽  
M. V. Feldsherov ◽  
E. V. Kondratyev
Keyword(s):  
Breast Cancer ◽  
Breast Augmentation ◽  
Breast Biopsy ◽  
Breast Mri ◽  
Breast Tumors ◽  
High Tech ◽  
X Ray ◽  
Vacuum Aspiration ◽  
Mri Guided ◽  
Aesthetic Breast

The rate of detection of breast cancer by MRI, while other methods of radiological diagnosis are not sufficiently informative, ranges from 5.2 to 26.3 per cent. Suspicious breast tumors of category BI-RADS 4, 5 show morphological image-guided biopsy verification, in particular MRI with contrast. Purpose. To show the possibilities and features of carrying out MRI-guided vacuum breast biopsy, including after aesthetic breast augmentation. Material and methods. A comprehensive X-ray, ultrasound and MRI examination of 54 women aged between 28 and 70 years with different breast tumors was conducted. Of these, five were detected only by breast MRI with contrast, and were morphologically verified by MRI-guided vacuum aspiration biopsy. Results. 14 of the 54 patients with breast mass were diagnosed with breast cancer and 26 were diagnosed with benign diseases. The effectiveness of comprehensive examination and low-invasive high-tech MRI-guided procedures in early refined screening for breast cancer, including after aesthetic breast augmentation, has been demonstrated. MRI-guided vacuum-assisted breast biopsy is a fast, safe and accurate diagnostic method of morphological verification of suspicious breast tumors that do not have X-ray and ultrasound.

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