1 Introduction

In 157 countries, breast cancer is the most common cancer in women [1]. There are several reports on the burden of this disease. According to the Global Burden of Diseases reports, the prevalence (8,689,255 to 20,323,179; 328.16 to 516.87 per 100,000 population), the incidence of breast cancer (865,881 to 2,082,737; 32.70 to 52.96 per 100,000 population) and death due to it (350,577 to 660,925; 13.23 to 16.80) have increased globally. This disease has resulted in 20.25 million years of life lost in 2021 (7.14% of years lost due to disability and 92.86% due to premature death) [2]. According to the statistics of the World Health Organization, in 2022, 2.3 million women will be diagnosed with breast cancer and it will be the cause of 670,000 deaths globally [1]. Physical and psychosocial functioning, family life, couple relationships, and working ability of patients are strongly affected by the disease symptoms and side effects of treatments and have a significant negative impact on their quality of life [3]. Based on a meta-regression analysis, the patient's quality of life showed a reduction: 64.72 (EORTC QLQ-C30), 84.39 (FACT-B), 66.33 (QLQ-BR23), and 57.23 (SF-36) [4].

Screening for breast cancer is an effective measure to potentially improve the outcome and survival, as it enables early detection [5]. Breast cancer screening methods are mainly divided into two groups: breast palpation (clinical breast examination and breast self-examination) and breast imaging techniques (mammography, ultrasonography, magnetic resonance imaging (MRI), and digital breast tomosynthesis (DBT)) [6]. Several factors such as gene variants, family and personal history of high-risk lesions, breast density, chest radiation at a young age, and race/ethnicity are associated with breast cancer [7]. Genetic inheritance and family history play a key role in the development of this disease [8]. 5%–10% of all breast tumors develop due to deleterious variants in the breast cancer susceptibility genes, with approximately 30% attributable to pathogenic variants in BRCA1 and BRCA2, and others such as TP53, CHEK2, and PALB2 [9]. Genetic testing is, therefore, a valuable tool for cancer risk assessment, screening, and treatment planning [10]. Until recently, genetic testing was mainly prescribed for patients with a strong family history of cancer and included a limited number of genes associated with cancer and the syndromes. With the advent of cost-effective sequencing methods, multigene susceptibility testing has become an established part of medical practice [11].

Although strong evidence has been provided on the impact of screening programs on reducing breast cancer mortality [12], there are still challenges in getting the population to participate in such programs. The participation rate in breast cancer screening is estimated at 16%–90% [13]. Considerable heterogeneity in the participation rate of Iranian women in breast cancer screening programs has been reported (3.8% to 16.8%) [14]. In Jafari et al.'s study, the acceptance rate of mammography in urban and rural areas was reported as 34.95% and 8.75%, respectively [15]. Meanwhile, according to the GBD1 reports in 2021, the mortality rate in Iranian women due to breast cancer (58.70 per 100,000 population) was higher than the global average (52.96 per 100,000 population) [2]. High participation is essential for the success of screening programs. Breast cancer screening aims to detect asymptomatic disease in apparently healthy women; however, due to the absence of noticeable symptoms, encouraging healthy women to participate in screening can be challenging [16]. Hajizadeh et al. have mentioned factors affecting the participation rate of Iranian women in screening programs. These range from fear, a lack of training programs, access to information and no awareness, cultural barriers to religious beliefs [17]. Omidi et al. have stated that in all the studies reviewed by them, educational interventions have led to the improvement of participants' knowledge, attitude, and practice in using breast cancer screening programs [14].

Knowledge is an important variable that influences behavior [18]. Negative attitudes and poor knowledge are defined as barriers to screening methods that have led to the failure of policymakers to introduce screening methods [19]. Not paying attention to the risk factors and screening methods involved, leads to late detection which increases the risk of mortality [20]. Genetic screening tests for breast cancer are a new medical technology that is not covered by the insurance system in Iran. The tests are too expensive. In this study, we aimed to assess women's intention to undergo genetic testing, allowing us to estimate the number of individuals who would ultimately participate in screening. These findings can help policymakers allocate financial resources for governmental support and contribute to designing more effective population-wide screening programs in the future.

2 Methods

I-CVI scores: (agreed item)/(number of expert)

To assess the reliability of the validated questionnaires, they were distributed online using a convenience sampling method among women over 30 years old. After 30 completed responses were collected, the reliability of the questionnaire was evaluated by calculating Cronbach's alpha coefficient. There are different recommendations regarding the acceptable value of Cronbach's alpha, but the threshold for acceptability is generally 0.7 [23]. For the questionnaire developed in this study, Cronbach's alpha was calculated as 0.74, indicating an acceptable level of reliability for confirming the instrument's validity.

The study commenced after obtaining ethical approval for biomedical research from the Ethics Committee of Iran University of Medical Sciences under the code IUMS/SHMIS-98-4-37-16709. Due to the COVID-19 pandemic and the resulting social distancing measures, in-person data collection was not feasible. As a result, the questionnaire was developed using Google Forms and distributed through multiple digital platforms, including Telegram, Instagram, WhatsApp, and email. A convenience sampling approach was employed, whereby participants self-selected into the study by voluntarily responding to the online survey. The inclusion criteria were identifying as female and expressing willingness to participate. The survey link was disseminated via public and semi-public online communities. It remained open while responses were being received and was deactivated once the response rate plateaued. The collected data were entered into Microsoft Excel 2019 and then transferred to SPSS (version 23) for descriptive statistics and analysis. In addition to calculating and reporting frequencies and percentages, Categorical Data Analysis methods—including Chi-Square, Fisher's Exact Test, Linear-by-Linear Association, and Chi-Square with Monte Carlo simulation—were employed to analyze subgroups across different variables. The application of the Chi-Square test, first introduced in 1900 by Karl Pearson for testing the goodness of fit of frequency curves, was later (in 1904) extended to contingency tables to test the independence of rows and columns. Since then, Pearson's family of Chi-Square tests has become one of the most commonly used sets of statistical analyses in social sciences [30].

This study primarily used the Chi-square test for subgroup comparisons, except in cases where modified versions were statistically required. Specifically, Fisher's Exact Test was applied when at least one cell in the contingency table had a frequency of less than 5 [31, 32]. For tables with numerous cells (e.g., 3 × 4 tables), the Monte Carlo simulation was employed in the Chi-Square test to enhance efficiency [33]. Additionally, when the dependent variable was ordinal, results were interpreted based on the Linear-by-Linear Association test [34]. The significance level (α) was set at 0.05 for all statistical tests.

Logistic regression was used to determine the factors influencing Iranian women's intention to undergo genetic testing for breast cancer. In this model, all independent variables listed in Table 1 were included.

All authors have read and approved the final version of the manuscript (Soheila Damiri) had full access to all of the data in this study and take complete responsibility for the integrity of the data and the accuracy of the data analysis.

3 Results

3845 individuals viewed the questionnaire, and 1041 completed it online (response rate = 27.07%). The majority of participants were over 30 years old (77.6%), university-educated (73.7%), employed (50.2%), and married (74.7%). Additionally, 59.4% had at least one child, and 45.7% had a daughter. Most participants had health insurance (88.0%). Regarding medical history, 70.4% had never undergone breast cancer screening, and 97.4% had no personal history of cancer. Among those with a history of cancer (2.6%), 1.2% had breast cancer, 0.4% had ovarian cancer, and 1.1% reported other cancers. A family history of breast cancer was reported by 28.8% of participants, while 11.1% had a family history of ovarian cancer. When assessing breast cancer risk perception, 67.2% of participants considered themselves at low risk, while 32.8% perceived a high risk. Additionally, 56.4% had low knowledge of breast cancer genetics, and 22.2% had a low level of agreement with genetic testing. Among all participants, only 2.7% had previously undergone genetic testing for breast cancer. Regarding future intentions, 89.5% expressed willingness to undergo genetic testing, 6.7% were unsure, and 3.7% stated they had no intention to do so (Table 1).

Education level (p < 0.001), and employment status (p = 0.02) were significantly associated with previous genetic testing, but no significant association was found between employment and future testing intention (p = 0.21). Marital status was significantly associated with prior genetic testing (p = 0.03), with married women being more likely to have undergone testing while having children also showed a significant association with past testing behavior (p = 0.02) but not with future intentions (p = 0.73). History of breast cancer screening was a predictor of prior genetic testing (p = 0.02), and family history of breast or ovarian cancer did not show any significant associations with past or future testing intentions (p > 0.05). Perceived breast cancer risk was not significantly linked to genetic testing behavior (p = 0.23 for past testing, p = 0.31 for future intention). However, knowledge of breast cancer genetics was significantly associated with undergoing genetic testing (p = 0.03), suggesting that increased awareness may lead to a higher willingness for testing. Attitudes toward breast cancer genetics were significantly associated with genetic testing intention (p < 0.001). Additionally, higher levels of worry about breast cancer were significantly linked to an increased likelihood of intending to undergo genetic testing (p = 0.02). In contrast, age did not show a significant association with genetic testing behavior (p = 0.66 for intention). Overall, the findings suggest that education, employment, marital status, prior breast cancer screening, and attitude toward genetic testing were key predictors of genetic testing behavior, while knowledge of breast cancer genetics and worry about breast cancer played significant roles in shaping future testing intentions. Conversely, age, family history, and perceived risk did not have significant associations with genetic testing behavior (Table 1).

Table 2 presents the distribution of responses to knowledge questions about breast cancer genetics. For instance, 28.8% correctly recognized that a father can pass down a breast cancer gene to his daughters, while 48.5% were uncertain. Only 5.7% correctly identified that breast cancer genes do not cause half of all breast cancers, with 54.9% believing the false statement. Additionally, 59.6% knew that women without a breast cancer gene can still develop the disease. Understanding of hereditary risks was mixed, with 54.0% recognizing the link between breast and ovarian cancer inheritance, while misconceptions remained prevalent.

Most respondents (84.1%) agreed that genetic tests provide personal risk information, and 91.9% felt knowing their gene status would encourage more frequent self-examinations. Additionally, 89.3% believed gene awareness would enhance their sense of personal control. Concerns about confidentiality were lower, with only 17.1% expressing worry. However, 45.2% lacked trust in modern medicine, and 25.9% wrongly believed nothing could prevent cancer. These findings highlight strong support for genetic testing but indicate lingering concerns about trust and confidentiality (Table 3).

Based on binary regression in addition to knowledge and attitude towards genetic screening tests, the probability of breast cancer gene variants is significantly associated with doing genetic screening tests for breast cancer (Table 4).

4 Discussion

This study investigated Iranian women's intentions to undergo BRCA genetic testing for breast cancer susceptibility. Insights into these intentions are critical for guiding public health strategies and informing the design of financial support and insurance coverage mechanisms. The results showed that over 89% of participants intended to pursue genetic testing. Binary logistic regression analysis identified knowledge, attitudes toward genetic screening, and the perceived probability of carrying a BRCA gene variant as significant predictors of this intention. Despite the clinical value of genetic screening in early cancer prevention, its adoption in Iran remains limited, primarily due to high costs and lack of insurance reimbursement. The findings illustrate a nuanced understanding of Iranian women's attitudes towards genetic screening. Despite limited knowledge of breast cancer genetics, participants exhibited a strong positive attitude and a high intention to undergo genetic testing—particularly among those identified as high-risk. This trend is consistent with international evidence. For example, a study by O. Ngene et al. reported that while 84% of Nigerian women demonstrated low knowledge of breast cancer genetics, over 87% expressed willingness to undergo genetic testing. In the Nigerian context, factors influencing this willingness included religious affiliation, perceived personal risk when a close relative carried a genetic variant, and access to healthcare services [35]. A similar disconnect between knowledge and intention was observed in this study. Although participants demonstrated a limited understanding of breast cancer genetics, there was a significant interest in undergoing genetic screening. Religious affiliation was not explicitly analyzed, as more than 90% of Iranian women identify as Muslim, leading to a relatively homogeneous study sample. The high intention to pursue genetic testing highlights a valuable opportunity for targeted educational interventions. Enhancing awareness of breast cancer genetics and the benefits of screening may contribute to increased uptake of testing services. The expressed willingness to engage in genetic screening, even with limited understanding, provides a strong foundation for the implementation of broader breast cancer prevention strategies. Nonetheless, this also underscores the necessity of structured educational programs to support informed decision-making regarding genetic testing and its implications. The differing results between this study and the research by Terui-Kohbata et al. suggest that knowledge, attitudes, and intentions regarding hereditary breast cancer and genetic testing vary across cultural and demographic contexts. Terui-Kohbata et al. examined Japanese female university students aged 20–30 and reported high levels of knowledge and strong interest in genetic testing. Interestingly, women at higher risk showed less interest in testing (74.5%) than those at lower risk (92%) [36]. In contrast, Iranian women in the present study exhibited a strongly held intention to undergo genetic testing, despite possessing limited knowledge. These differences may reflect variations in age, life stage, educational experiences, and cultural norms. For instance, the broader age range and diverse backgrounds of Iranian women may have contributed to more immediate concerns regarding health risks. On the other hand, the younger, more homogeneous Japanese sample may have viewed genetic testing through a more future-oriented lens. Additionally, contrasting perceptions of personal risk and cultural attitudes toward family planning could account for differences in testing intentions. These findings underscore the importance of designing genetic counseling and educational programs that are responsive to the cultural and demographic characteristics of the population to support informed decision-making.

Hurtado-de-Mendoza et al. conducted a study examining the knowledge of breast cancer genetics among Black women with BRCA variants, revealing that approximately 98% of respondents had breast cancer, with an average age of 51 years and only 42% being married. The findings indicated moderate levels of understanding regarding breast genetics, and multivariable regression analysis identified high knowledge and self-efficacy as significant factors influencing the use of genetic counseling and testing [37]. This underscores the critical need for targeted educational programs to enhance awareness and encourage proactive health measures, particularly in communities with a higher prevalence of BRCA variants. By fostering knowledge and confidence, these initiatives can empower black women to engage more fully with genetic counseling and testing services, ultimately improving health outcomes in this vulnerable population.

While numerous studies advocate for enhanced education about breast cancer genetics for women [35, 37], research by Brédart et al. reveals a concerning paradox: women with BRCA variants who possess high levels of genetic knowledge often experience significant psychological distress [38]. This heightened anxiety may stem from an acute awareness of their cancer risks, the cognitive burden of complex genetic information, and an intensified sense of vulnerability. Consequently, healthcare providers must adopt a balanced approach to genetic education, ensuring that information is tailored to individual needs and accompanied by robust psychological support. By framing genetic knowledge as a means of empowerment rather than a source of anxiety, and by providing ongoing emotional care, healthcare professionals can help mitigate distress while promoting informed decision-making among women facing the challenges of BRCA variants.

This study has several notable limitations. First, the reliance on convenience sampling may limit the generalizability of findings, as it likely underrepresented low-income and rural populations with limited internet access. Second, self-reported data are susceptible to social desirability bias, as participants may have over-reported their intention to undergo genetic testing or provided socially acceptable responses regarding attitudes toward breast cancer screening. Third, while financial barriers were acknowledged, the study did not quantitatively assess how the cost might affect testing uptake despite high expressed interest (89.5%). Fourth, the predominantly urban sample (notably from Tehran) may not reflect cultural and socioeconomic diversity across Iran. Fifth, as a cross-sectional study, it could not address psychological sequelae (e.g., posttest anxiety) or longitudinal behavioral outcomes, which are vital for program sustainability. These limitations highlight the need for future research with geographically diverse samples, mixed-methods approaches, and longitudinal tracking of testing behaviors and their psychosocial impacts. Finally, because the questionnaire was disseminated through public and semi-public social media platforms (e.g., Telegram, WhatsApp), the total number of individuals who received or accessed the link could not be accurately ascertained. As a result, calculating a traditional response rate was unfeasible. This limitation is frequently encountered in online surveys that utilize convenience sampling techniques.

5 Conclusion

This study investigated the intentions of Iranian women regarding breast cancer genetic testing and found a high intention of testing among participants. However, the actual uptake may vary due to psychological factors and a narrow focus on breast cancer cases. To maximize participation in breast cancer screening programs, individuals must first undergo evidence-based risk assessments and receive personalized risk awareness education. Implementing targeted training initiatives and preventive interventions through evidence-informed policies can address existing gaps in care, ultimately reducing the incidence of advanced-stage breast cancer. A comprehensive risk assessment system should actively communicate personalized risk data to empower preventive decision-making. Policymakers must prioritize two key approaches [1]: developing educational campaigns to facilitate informed decision-making, and [2] implementing preventive interventions to promote proactive health behaviors among at-risk women. Furthermore, leveraging technological advancements—particularly through social media platforms—can significantly enhance public awareness and participation in screening programs.

Author Contributions

Zahra Meshkani: conceptualization, methodology, data curation, supervision, validation, writing – original draft, writing – review and editing. Soheila Damiri: methodology, software, formal analysis, writing – original draft, writing – review and editing. Najmeh Moradi: conceptualization, writing – original draft. Mohadeseh Motamed-Jahromi: investigation, validation, data curation. Ali Aboutorabi: conceptualization, methodology, investigation, writing – original draft.

Ethics Statement

This study was part of a Ph.D. thesis that is supported by Iran University of Medical Sciences (grant No: IUMS/SHMIS-98-4-37-16709, and Ethical Code.IR.IUMS.REC.1398.1051).

Consent

This was not a clinical study, although all participants in the study answered the questions voluntarily. The authors confirmed that informed consent was obtained from all subjects.

The authors confirm that all methods were performed following the relevant guidelines and regulations e.g., the Declaration of Helsinki.

Conflicts of Interest

The authors declare that there is no conflict of interest regarding the publication of this article. This study did not receive any specific funding from public, commercial, or non-profit funding agencies. Iran University of Medical Sciences didn't have any role in study design; collection, analysis, and interpretation of data; writing of the report; and the decision to submit the report for publication.

Transparency Statement

The lead author Soheila Damiri affirms that this manuscript is an honest, accurate, and transparent account of the study being reported; that no important aspects of the study have been omitted; and that any discrepancies from the study as planned (and, if relevant, registered) have been explained.