Various Aspects Of Breast Cancer Research Articles

Circulating tumor DNA: from discovery to clinical application in breast cancer.

Breast cancer (BC) stands out as the cancer with the highest incidence of morbidity and mortality among women worldwide, and its incidence rate is currently trending upwards. Improving the efficiency of breast cancer diagnosis and treatment is crucial, as it can effectively reduce the disease burden. Circulating tumor DNA (ctDNA) originates from the release of tumor cells and plays a pivotal role in the occurrence, development, and metastasis of breast cancer. In recent years, the widespread application of high-throughput analytical technology has made ctDNA a promising biomarker for early cancer detection, monitoring minimal residual disease, early recurrence monitoring, and predicting treatment outcomes. ctDNA-based approaches can effectively compensate for the shortcomings of traditional screening and monitoring methods, which fail to provide real-time information and prospective guidance for breast cancer diagnosis and treatment. This review summarizes the applications of ctDNA in various aspects of breast cancer, including screening, diagnosis, prognosis, treatment, and follow-up. It highlights the current research status in this field and emphasizes the potential for future large-scale clinical applications of ctDNA-based approaches.

Awareness regarding breast cancer amongst women in Pakistan: A systematic review and meta-analysis.

Breast cancer (BCa) is the most common cause of cancer death in Pakistan. In 2019, Pakistan saw the highest global BCa-associated death rate. But do Pakistani women know about the various aspects of BCa? And how prevalent are BCa screening methods amongst Pakistani females? These questions formed the basis for our study. We conducted this review in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. On September 1, 2023, we searched PubMed, Embase, Scopus, and Google Scholar, and performed a citation search to search for eligible studies published in 2010 or after, using the following terms: "breast cancer" and "Pakistan". Observational studies that evaluated BCa awareness and/or practice amongst Pakistani females who were not associated with medicine were eligible. We used the National Institutes of Health quality assessment tool to assess the risk of bias. We conducted a proportion meta-analysis to calculate pooled prevalences for variables. Responses from 9766 Pakistani women across 18 included studies showed alarmingly low levels of BCa knowledge: risk factors, 42.7% (95% CI: 34.1%-51.4%); symptoms, 41.8% (95% CI: 26.2%-57.5%); diagnostic modalities, 36.3% (95% CI: 23.1%-49.4%); treatments, 46.6% (95% CI: 13.5%-79.8%). Prevalence of breast self-examination (BSE) and ever having undergone a clinical breast exam (CBE) was 28.7% (95% CI: 17.9%-39.6%) and 15.3% (95 CI: 11.2%-19.4%), respectively. BCa knowledge was significantly associated with better educational status, age, and socioeconomic status. On average, only two in five Pakistani women are aware of one or more risk factors, symptoms, or diagnostic modalities. Approximately one in two women know about possible BCa treatment. Less than one in three women practice regular BSE, and less than one in five women have ever undergone a CBE.

Over-expression of mir-181a-3p in serum of breast cancer patients as diagnostic biomarker.

Recently, the significance of epigenetics, particularly in breast cancer (BC), has become increasingly recognized. MicroRNAs (miRNAs), as an epigenetic factor, are offering valuable insights into various aspects of BC, such as its origins and clinical features. Therefore, studying the disruption of specific miRNAs through microarray and RNA-seq techniques is considered useful. We analyzed two microarray datasets (GSE106817 and GSE113486) in order to discover dysregulated miRNAs in the serum of BC patients. Subsequently, RNA-seq analysis was employed on the TCGA data. Two miRNAs, mir-450a-5p and mir-181a-3p, as novel miRNAs in BC studies, were selected for assessment in the serum of 100 BC patients versus 100 healthy female participants. The quantities of the miRNAs described above were determined through the utilization of RT-qPCR. Furthermore, ROC curve assessments were conducted for each individual miRNA. Next, an assessment was conducted to determine the prognostic significance of these miRNAs. In summary, the utilization of microarray and RNA-seq analysis techniques has demonstrated that mir-450a-5p and mir-181a-3p exhibit elevated expression levels in the serum of BC patients. However, it is noteworthy that only mir-181a-3p displayed clinical dysregulation, as confirmed by RT-PCR findings. These miRNAs have been found to play a crucial role in modulating essential cellular processes and biological functions that contribute to cancer development. Furthermore, noteworthy outcomes have been observed for mir-181a-3p in relation to diagnostic and prognostic clinical characteristics.

Aromatase inhibitors: the journey from the state of the art to clinical open questions.

Breast cancer is a major cause of death among females. Great advances have been made in treating this disease, and aromatase inhibitors (AIs) have been recognized as the cornerstone. They are characterized by high efficacy and low toxicity. The authors reviewed the available literature and defined state-of-the-art AI management. This study was designed to assist clinicians in addressing the need to equally weigh patients' needs and disease control rates in their everyday clinical practice. Today, AIs play a central role in the treatment of hormone receptor-positive breast cancer. In this study, an expert panel reviewed the literature on the use of AIs, discussing the evolution of their use in various aspects of breast cancer, from pre- and postmenopausal early breast cancer to metastatic breast cancer, along with their management regarding efficacy and toxicity. Given the brilliant results that have been achieved in improving survival in everyday clinical practice, clinicians need to address their concerns about therapy duration and the adverse effects they exert on bone health, the cardiovascular system, and metabolism. Currently, in addition to cancer treatment, patient engagement is crucial for improving adherence to therapy and supporting patients' quality of life, especially in a selected subset of patients, such as those receiving an extended adjuvant or combination with targeted therapies. A description of modern technologies that contribute to this important goal is provided.

SP11.11 Developing the Mobile App ‘ABCs of Breast Health’ - Pioneering Digital Innovation to raise awareness of Breast Health in India

Abstract Aims Breast cancer is the most common cancer affecting women, both in India & the world. Due to a lack of awareness and the absence of an organised population-based screening programme in India, more than 60% of breast cancers present in the advanced stages, with most succumbing to the illness within a year of being diagnosed. This mobile app aims to empower people about various aspects of Breast cancer & Benign breast disease explained in simple, easy-to-understand format. Methods To help address these striking realities, I worked with a Breast Cancer Charity based out of India, to create the Mobile App - ‘ABC's of Breast Health’ - available in English and 11 regional Indian Languages. The app has an interactive ‘Myths & Facts’ section which is aimed at debunking many of the common myths surrounding breast cancer and ensuring that users are well informed with accurate information, thus filling a huge void in the delivery of Breast Health Care in India where counselling is not given much importance. A dedicated breast health helpline was launched in 2021 to further support users. Results This App is South Asia's First Mobile App on Breast Health and is also the World's first breast health app available in so many languages. Within the first month of its launch, it recorded 9000+ downloads. Conclusion The content of the app in 11 commonly spoken regional languages has ensured that accurate information relating to breast health is accessed by women in rural India, where 70% of the population resides.

A comparative study to evaluate the effectiveness of constructive teaching program (CTP) and self-instructional module (Sim) on knowledge regarding breast cancer among B.Ed students of selected B.Ed College, Hubballi-Dharwad

A quasi-experimental; two group concurrent pre-test, post-test design was conducted to evaluate the effectiveness of Constructive Teaching Program (CTP) and Self-Instructional Module (SIM) on knowledge regarding Breast Cancer among 60 B.Ed students of selected B.Ed college who were divided into two groups (30 in Group-I with CTP and 30 in Group-II with SIM) were selected using Probability; Simple random sampling technique. Instruments used to measure the effectiveness are: Demographic variables and Structured Knowledge Questionnaire on various aspects of Breast cancer. Findings revealed that the ‘F’cal value (332.52*) is greater than the ‘F’tab value (4.08). This indicates that the mean gain in knowledge scores of B.Ed students in Group-I who were exposed to Constructive Teaching Program was higher than those in the Group-II who were exposed to Self-Instructional Module. This signifies CTP is more effective than SIM.

Developing the mobile app 'ABCs of Breast Health' - Using digital innovation to improve breast health in India

Introduction: Breast cancer is the most common cancer affecting women, both in India and the world. With 87,000 deaths per annum, tragically, a woman loses her life to breast cancer every ten minutes in India. Due to a lack of awareness and the absence of an organised population-based screening programme in India, more than 60% of breast cancers present in the advanced stages, with most succumbing to the illness within a year of being diagnosed. This mobile app aims to empower people about various aspects of breast cancer & benign breast disease explained in simple, easy-to-understand format.

Role of adipocyte browning in prostate and breast tumor microenvironment.

Prostate cancer (PC) and breast cancer (BC) are the most common cancers in men and women, respectively, in developed countries. The increased incidence of PC and BC largely reflects an increase in the prevalence of obesity and metabolic syndrome. In pathological conditions involving the development and progression of PC and BC, adipose tissue plays an important role via paracrine and endocrine signaling. The increase in the amount of local adipose tissue, specifically periprostatic adipose tissue, may be a key contributor to the PC pathobiology. Similarly, breast adipose tissue secretion affects various aspects of BC by influencing tumor progression, angiogenesis, metastasis, and microenvironment. In this context, the role of white adipose tissue (WAT) has been extensively studied. However, the influence of browning of the WAT on the development and progression of PC and BC is unclear and has received less attention. In this review, we highlight that adipose tissue plays a vital role in the regulation of the tumor microenvironment in PC or BC and highlight the probable underlying mechanisms linking adipose tissue with PC or BC. We further discuss whether the browning of WAT could be a therapeutic strategy for the treatment of PC and BC.

Gene therapy: A promising approach for breast cancer treatment

Breast cancer (BC) is the most prevalent malignancy and the second leading cause of death among women worldwide that is caused by numerous genetic and environmental factors. Hence, effective treatment for this type of cancer requires new therapeutic approaches. The traditional methods for treating this cancer have side effects, therefore so much research have been performed in last decade to find new methods to alleviate these problems. The study of the molecular basis of breast cancer has led to the introduction of gene therapy as an effective therapeutic approach for this cancer. Gene therapy involves sending genetic material through a vector into target cells, which is followed by a correction, addition, or suppression of the gene. In this technique, it is necessary to target tumour cells without affecting normal cells. In addition, clinical trial studies have shown that this approach is less toxic than traditional therapies. This study will review various aspects of breast cancer, gene therapy strategies, limitations, challenges and recent studies in this area.

The Biogenesis and Functions of circRNAs and Their Roles in Breast Cancer.

Recent statistics show that breast cancer is among the most frequent cancers in clinical practice. It is also the second-leading cause of cancer-related deaths among women worldwide. CircRNAs are a new class of endogenous regulatory RNA molecules whose 5’ end and 3’ end are connected together to form a covalently closed single-stranded loop by back-splicing. CircRNAs present the advantages of disease-specific expression and excellent expression stability, and they can modulate gene expression at posttranscriptional and transcriptional levels. CircRNAs are abnormally expressed in multiple cancers, such as breast cancer, and drive the initiation and progression of cancer. In this review, we describe current knowledge about the functions of circRNAs and generalize their roles in various aspects of breast cancer, including cell proliferation, cell cycle, apoptosis, invasion and metastasis, autophagy, angiogenesis, drug resistance, and tumor immunity, and their prognostic and diagnostic value. This may add to a better understanding of the functions and roles of circRNAs in breast cancer, which may become new diagnostic and predictive biomarkers of breast cancer.

Cross-Sectional study on knowledge about breast cancer and breast self examination among female undergraduate students in Telangana, India

Background: Breast Cancers are second most common cancers today. Regular breast self examination 1 (BSE), clinical examination and mammography are the three most recommended screening tests. Unlike clinical examination which requires hospital visit and mammography which is reliant on technology and expensive; BSE is an easy, quick, no-cost, non-invasive, self carried-out procedure. Aims & Objectives: Study was done to determine the awareness levels about BSE and breast cancers among female students, and empowering them with correct knowledge about the same. Study Design: Questionnaire based, cross-sectional descriptive study. Setting: Bhaskar Medical College and General Hospital, Hyderabad, Telangana, India. Materials & Methods: A cross-sectional descriptive study, using a pre-tested and semi structured questionnaire was carried out over the period of 2 months. Study population comprised of 381 female students in the age group of 18-24 years. Data was analyzed using IBM SPSS statistics 2015. Results: The first sign of breast cancer being a lump or mass (86.9%), inheritance of abnormal genes (74.8%), rising age (73.5%), exposure to radiations/certain hormones (89.0%), late pregnancies (74.5%)as risk factors was found to be known to most. Only 50.9% recognized that BSE should be done at least once a month on a specific date and time. Around 44%, 36% and 56% didn't know that that BSE should be performed while standing, lying down and during baths. Conclusions: It was found that majority had adequate knowledge about various aspects of breast cancer. When it came to awareness about BSE, the knowledge about right technique, position and time were found to be scarce. Practice of BSE could be improved by properly educating young women and spreading awareness about its benefits.

The association of codon 392 polymorphism in ESR2 gene with breast cancer in Iran

Epidemiological studies revealed that the pattern of age onset of breast cancer in the Middle East region differ from those in Caucasians. Therefore, genomic data for ESR2 (ER-?) is of the value in the clinical setting for that ethnic group and the aim of the current investigation is investigated whether polymorphisms in the ER-? gene are associated with breast cancer risk among Iranian women. The coding sequence in Exon 7 at ESR2 gene was looking for any variation among the Iranian breast cancer women by SSCP-PCR method. In codon 392 of exon 7, showed a silent SNP (silent single nucleotide polymorphism). The frequency of allele G in codon 392 (CTC ? CTG was found only in cases (5.7%). We also found that allele G in codon 392 (C1176G) had direct association with development of lymph node metastasis in breast cancer. The current results suggest that ESR2 SNP in exon 7, codon 392 is associated with various aspects of breast cancer in Iran. ESR2 gene structure determination, in presurgical evaluation, might be a useful marker in predicting familial breast cancer and metastasis in LN.

Epidemiological characteristics of and risk factors for breast cancer in the world.

AimBreast cancer is the most common cancer among women and one of the most important causes of death among them. This review aimed to investigate the incidence and mortality rates of breast cancer and to identify the risk factors for breast cancer in the world.Materials and methodsA search was performed in PubMed, Web of Science, and Scopus databases without any time restrictions. The search keywords included the following terms: breast cancer, risk factors, incidence, and mortality and a combination of these terms. Studies published in English that referred to various aspects of breast cancer including epidemiology and risk factors were included in the study. Overall, 142 articles published in English were included in the study.ResultsBased on the published studies, the incidence rate of breast cancer varies greatly with race and ethnicity and is higher in developed countries. Results of this study show that mortality rate of breast cancer is higher in less developed regions. The findings of this study demonstrated that various risk factors including demographic, reproductive, hormonal, hereditary, breast related, and lifestyle contribute to the incidence of breast cancer.ConclusionThe results of this study indicated that incidence and mortality rates of breast cancer is rising, so design and implementation of screening programs and the control of risk factors seem essential.

Knowledge and Awareness of Breast Cancer among Young Women in the United Arab Emirates

Background: Breast cancer is the most common cancer among females in the United Arab Emirates (UAE). It carries poor prognosis when detected late. Patients usually present at late stages due to lack of awareness of various aspects of breast cancer. Aim: The objective of this study is to gain insight into the level of knowledge of breast cancer among young adult females in UAE. Methods: A cross-sectional study was conducted among females aged 25 to 45. A total of 492 females were selected using a convenience sampling method. Data were collected through an interview-based questionnaire. Frequency distributions and percentages were used to describe the knowledge tested within the questionnaire. Results: The mean age of the participants was 33.5 years. Almost 27% of our participants received a high school degree. The average total knowledge of our population was 51%. The majority (89%) knew that breast cancer is common and 45% knew that it affects ages above forty. The knowledge of signs and symptoms was 53%, and more than half (57%) knew that the most common presenting sign is a breast lump. The knowledge of risk factors was 43%. Almost 94% knew that cancer can be detected early, and 93% knew that early diagnosis improves outcome. The total knowledge of screening methods was 67%. Conclusion: The study revealed that respondents’ knowledge of breast cancer is less than expected. The increased burden of the disease should be accompanied by powerful means of spreading awareness by implementing campaigns that would improve knowledge deficits.

Breast Cancer Awareness at the Community Level among Women in Delhi, India.

To assess women's awareness from diverse sections of society in Delhi regarding various aspects of breast cancer (BC)--perceptions, signs and symptoms, risk factors, prevention, screening and treatment. Community-level survey was undertaken in association with the Indian Cancer Society (ICS), Delhi during May 2013-March 2014. Women attending BC awareness workshops by ICS were given self-administered questionnaires before the workshop in the local language to assess BC literacy. Information provided by 2017 women was converted into awareness scores (aware=1) for analysis using SPSS. Awareness scores were dichotomized with median score=19 as cut off, create more aware and less aware categories. Bivariate and multivariate analysis provided P-values, odds ratios (ORs) and 95% confidence intervals (CIs). Broadly, 53.4% women were aware about various aspects of BC. Notably, 49.1% women believed that BC was incurable and 73.9% women believed pain to be an initial BC symptom. Only 34.9% women performed breast self-examination (BSE) and 6.9% women had undergone clinical breast-examination/mammography. 40.5% women had higher awareness (awareness score>median score of 19), which was associated with education [graduates (OR=2.31; 95%CI=1.78, 3.16), post-graduates (OR=7.06; 95%CI=4.14, 12.05) compared to ≤high school] and socio-economic status (SES) [low-middle (OR=4.20; 95%CI=2.72, 6.49), middle (OR=6.00; 95%CI=3.82, 9.42) and upper (OR=6.97; 95%CI=4.10, 11.84) compared to low SES]. BC awareness of women in Delhi was suboptimal and was associated with low SES and education. Awareness must be drastically increased via community outreach and use of media as a first step in the fight against BC.

AOS19 Oestrogen receptor-[formula omitted] gene polymorphism (T392C) in Iranian women with breast cancer

Background Receptor-mediated oestrogen activation plays a part in the development and progression of breast cancer. Evidence suggests that alterations in oestrogen signalling pathways, including oestrogen receptor- α (ESR1- α ) occur during breast cancer development. ESR1- α gene polymorphism is known to be associated with breast cancer and clinical features of the disease in Caucasians. Results of epidemiological studies have shown that age-incidence patterns of breast cancer in women from the Middle East differ from those in Caucasians. Genomic data for ESR1- α in either population are therefore important in the clinical setting for each ethnic group and we have investigated whether polymorphisms in the ESR1- α are associated with risk of breast cancer. Methods A case–control study was done to establish a database of ESR1 polymorphisms in the Iranian population for comparison of western and Iranian (Middle East) distributions and to assess ESR1 polymorphism as an indicator of clinical outcome. The ESR1 gene was scanned in 150 Iranian patients who were newly diagnosed with invasive breast tumours and in 147 healthy individuals. Single-strand conformation polymorphism polymerase chain reaction (PCR) and direct sequencing were done. Findings Silent single nucleotide polymorphisms (SNPs), as reported in previous studies, were found but at significantly different frequencies. The frequency of allele 1 in codon 10 (TCT → TCC) (T/C, S392S) of exon 1 was significantly higher in patients with breast cancer (45.7%) than in the controls (39.8%; p = 0.148). We found that allele 1 (TCT → TCC) in codon 10 was significantly more common in patients with breast cancer who had a family history of breast cancer (78.9%) than in those without such a history (40.8%; p = 0.001). The allele 1 in codon 10 showed an association with the occurrence of lymph node metastasis (58.7% and 43.3% with and without lymph node metastases, respectively). Therefore, this SNP marker further increased predictive accuracy in the Iranian population. Interpretation Our data suggest that ESR1 polymorphisms correlated with various aspects of breast cancer in Iranian women, as determined during pre-surgical assessment, might represent a surrogate marker for predicting breast cancer. The authors declared no conflicts of interest.

P1-08-13: Determinants of Risk, Characteristics and Prognosis of Breast Cancer Occurring after Hodgkin Lymphoma.

Abstract Background Several studies have evaluated the excess of breast cancer (BC) risk after Hodgkin lymphoma (HL) but none has reported of all the aspects of BC occurring after HL including determinants of risk, comparison with other BC profile, treatment and outcome. This is the aim of our study. Patients and Methods We used data from the Surveillance, Epidemiology and End Results (SEER) Programme of the National Cancer Institute. To assess the risk and determinants of BC after HL we included all 9'620 women with first primary HL diagnosed between 1973 and 2007 and calculated age and period standardized incidence ratio (SIR) of BC as compared with general population. We also compared tumour characteristics and treatment between BC after HL (n= 316) vs. all other first primary BC occurring during the same period (n=450'413) by logistic regression. Finally, we compared breast cancer specific mortality between the two groups by Cox model. Results Overall, HL patients had an increased risk of developing BC (SIR: 2.4, 95% confidence interval [CI]: 2.2−2.7); the risk decreased with increasing age at HL, and disappeared when HL occurred after 50 years. BC risk was the same among those treated with or without radiotherapy until 15 years after HL and then an excess appeared in the irradiated group and persisted over 30 years after diagnosis of HL. Compared with other BC, BC after HL occurred at younger age (Adjusted odds ratio [OR] for age 40–59 vs. < 40 years 0.25, 95% CI: 0.20−0.33), was diagnosed at an early stage (OR for regional extension vs. localized 0.63, 95% CI: 0.42−0.89), expressed less frequently hormone receptors (OR for negative vs. positive status: 1.34, 95% CI: 0.99−1.81), was located more frequently in external quadrants (OR for internal vs. external: 0.61, 95% CI: 0.42−0.89), and received less frequently radiotherapy (OR for use vs. non use: 0.30, 95%CI: 0.22-042). The last two results were limited to patients who had received radiotherapy for HL. BC after HL presented higher breast cancer mortality (Hazard ratio: 1.36, 95%CI: 1.05−1.76) after adjustment for patients, tumour and treatment characteristics. Conclusion: This study provides valuable results on various aspects of BC occurring after HL. In particular, we found earlier stage at diagnosis of BC probably linked to higher surveillance, more aggressive tumours probably due to iatrogenic effect of HL treatment, more frequent occurrence in outer quadrants less protected during mantel radiation. Also, this study confirms the poorer prognostic of those BC not explained by differences in patient, tumour or treatment characteristics. Citation Information: Cancer Res 2011;71(24 Suppl):Abstract nr P1-08-13.

Changing paradigm of breast cancer.

[1] Cancer of the Breast has emerged as a leading site of cancer in most urban population of India. It is estimated that 90,000 new cases of breast cancer are detected annually. National cancer registry programme has shown a statistical rising trend in the incidence rate of Breast cancer. In the hospital cancer registries Breast cancer constitutes 14.32% to 30% of all cancers in women [2]. The variation noticed after development of Atlas of cancer in India, showed higher microscopic incidence of breast cancer in peripheral parts of India [3]. The debate continues regarding screening programme of breast cancer in India how feasible & what methodology one should adopt in implementing the different programme. The articles related to problem of breast cancer and its variation has been published in this issue. There is cultural variation in women in different parts of India. The incidence of receptor status varies from western to developing world. This has been published by Suraj et al. on Estrogen receptor negative breast cancer in India do we have higher burden of this type. This clearly depicts their higher triple negative cancer and the facilities available for evaluating these patients for standard of care treatment. Inamdar et al. publishing the Correlation Between Obesity and High Density Lipoprotein Cholesterol (HDL-C) in Breast Cancer Patients of Southern Rajasthan, a variant observed in that population which leads to future thinking on preventive surgery for cancer in relation to obesity and breast cancer. Maji et al.—Onco plastic surgery- our experience in the breast clinic, from Eastern part of the country. Indicating that breast conservative surgery with or without reconstruction is a demand by the patients one has to learn the newer techniques to give a quality of life for the women suffering of Breast cancer. This issue also highlights complications of axillary dissection both after mastectomy and BCS, by Brar et al. To complete Tripuraneni et al. as given a overview on Radiation therapy in early stage invasive breast cancer. Sameer Damle et al. bringing out the issue of Prophylatic mastectomy in Contralateral Breast cancer. The other articles in this issue a review by Raghunandan et al on Imaging in staging and Management of Pancreatic ductal adeno carcinomas, and Chamberlain and his colleagues have reviewed the significance of CA 19-A as Bio marker in Pancreatic cancer. The simple and a day to day problem of FNAC of Thyroid Nodules an article on inadequate cytology in thyroid nodules: should we repeat Aspiration or Follow-Up? By Yoon et al. has extend a curiosity and thinking on this subject what to do. The breast cancer remains a challenge and changing paradigm has been observed in various aspects of Breast cancer in Indian subcontinent.

Estrogen Receptor-Beta Gene Polymorphism in women with Breast Cancer at the Imam Khomeini Hospital Complex, Iran

ER-alpha and ER-beta genes have been proven to play a significant role in breast cancer. Epidemiologic studies have revealed that age-incidence patterns of breast cancer in Middle East differ from those in the Western countries. Two selected coding regions in the ER-β gene (exons 3 and 7) were scanned in Iranian women with breast cancer (150) and in healthy individuals (147). PCR single-strand conformation polymorphism was performed. A site of silent single nucleotide polymorphism was found only on exon 7. The SNP was found only in breast cancer patients (5.7%) (χ2 = 17.122, P = 0.01). Codon 392 (C1176G) of allele 1 was found to have direct association with the occurrence of lymph node metastasis. Our data suggest that ER-β polymorphism in exon 7 codon 392 (C1176G) is correlated with various aspects of breast cancer and lymph node metastasis in our group of patients.

Estrogen Receptor-α Gene Codon 10 (T392C) Polymorphism in Iranian Women with Breast Cancer: A Case Study

A case study was conducted to establish a database of polymorphisms in Iranian population in order to compare Western and Iranian (Middle East) distributions and to evaluate ESR1 polymorphism as an indicator of clinical outcome. The ESR1 gene was scanned in Iranian patients newly diagnosed invasive breast tumors, (150 patients) and in healthy individuals (147 healthy control individuals). PCR single-strand conformation polymorphism methodology and direct sequencing were performed. The silent single nucleotide polymorphism (SNPs) was performed, as reported previously in other studies, but at significantly different frequencies, with further increasing predictive accuracy in Iranian population. Data suggest that ESR1 polymorphisms are correlated with various aspects of breast cancer in Iranian ESR1 genotype, as determined during pre-surgical evaluation, might represent a surrogate marker for predicting breast cancer.