Psychological functioning in African American women at an increased risk of hereditary breast and ovarian cancer

Despite attention to psychological issues during genetic counselling and testing for hereditary breast and ovarian cancer risk, limited information is available on cancer-specific distress among African American women being targeted for participation in counselling and testing. Therefore, the purpose of this study is to examine cancer-specific distress in African American women at an increased risk of hereditary breast and ovarian cancer and to identify factors having significant associations with distress in this population. Respondents were 141 African American women identified for participation in genetic counselling and testing for BRCA1/2 mutations. Overall, respondents reported moderate levels of cancer-specific distress. Younger age (coefficient=6.0, p=0.001), being unemployed (coefficient=-5.0, p=0.01), and having a personal history of cancer (coefficient=5.0, p=0.02) had significant associations with intrusion. Younger age was also associated significantly with greater avoidance (r=6.0, p=0.02). These results suggest that African American women aged 50 and younger, those who are unemployed and women with a personal history of breast or ovarian cancer may be the most vulnerable to experiencing elevated levels of distress during genetic counselling and testing. Greater attention to psychological issues, including concerns about cancer and cancer risks, may be needed during genetic counselling and testing for BRCA1/2 mutations with these women.     

Complementary and alternative medicine use among women at increased genetic risk of breast and ovarian cancer

Background  

Complementary and alternative medicine (CAM) use is well documented among breast cancer patients and survivors, but little evidence is available to describe rates and patterns of use among women at increased genetic risk of breast cancer.     

Uptake of polygenic risk information among women at increased risk of breast cancer

Polygenic risk scores (PRSs) are increasingly being implemented to assess breast cancer risk. This study aimed to assess and determine factors associated with uptake of PRS among women at increased risk of breast cancer for whom genetic testing to date had been uninformative. Participants were recruited from the Variants in Practice study from which breast cancer PRS had been calculated. Four hundred women were notified by letter of the availability of their PRS and invited to complete a self-administered survey comprising several validated scales. Considering non-participants, uptake of PRS was between 61.8% and 42.1%. Multivariate logistic regression identified that women were more likely to receive their PRS if they reported greater benefits (odds ratio [OR] = 1.17, P = .011) and fewer barriers to receiving their PRS (OR = 0.80, P = .007), had completed higher level education (OR = 3.32, P = .004), and did not have daughters (0.29, P = .006). Uptake of breast cancer PRS varied according to several testing- and patient-related factors. Knowledge of these factors will facilitate the implementation of polygenic testing in clinical practice and support informed decision making by patients.     

Long-term outcomes of genetic counseling in women at increased risk of developing hereditary breast cancer.

This multicenter study evaluated the impact of genetic counseling in 218 women at risk of developing hereditary breast cancer. Women were assessed prior to counseling and 12-month post-counseling using self-administered, mailed questionnaires. Compared to baseline, breast cancer genetics knowledge was increased significantly at follow-up, and greater increases in knowledge were associated with educational level. Breast cancer anxiety decreased significantly from baseline to follow-up, and these decreases were associated with improvements in perceived risk. A significant decrease in clinical breast examination was observed at the 12-month follow-up. Findings suggest that women with a family history of breast cancer benefit from attending familial cancer clinics as it leads to increases in breast cancer genetics knowledge and decreases in breast cancer anxiety. The lowered rates of clinical breast examination indicate that the content of genetic counseling may need to be reviewed to ensure that women receive and take away the right message.     

Bisphosphonate therapy for women with breast cancer and at high risk for osteoporosis

Bisphosphonates are effective inhibitors of osteoclast activity and bone resorption, and are standard treatments for osteoporosis, hypercalcemia of malignancy, and metabolic bone disease. Bisphosphonates have also been established to effectively reduce skeletal-related events due to malignancy metastatic to bone. Bisphosphonates are now being incorporated into breast cancer treatment regimens in order to combat osteoporosis caused by ovarian suppression, chemotherapy treatment, aromatase inhibitors and the postmenopausal state itself. A large body of evidence suggests that African-American women are at higher risk for osteoporosis-related morbidity than their Caucasian counterparts. In this review, we highlight recommendations toward screening for osteoporosis in high-risk populations. We summarize the mechanisms of action of bisphosphonates in the treatment of osteoporosis and then summarize national recommendations toward incorporating the use of bisphosphonates as support for the bone health of breast cancer patients, as well as patients at high risk for osteoporosis.     

A psychological profile of depressed and nondepressed women at high risk for breast cancer

This study examines the difference on several demographic and psychosocial variables between women at high risk for breast cancer above and below the cut-off point of a depression measure (Center for Epidemiological Study Depression Scale). Data are presented for 430 consecutive patients from the UCLA Revlon Breast Center High Risk Clinic. Women scoring above the depression cut-off point were younger, had more relatives with breast cancer, reported more symptoms of anxiety, and had more self-perceived vulnerability to breast cancer. In addition, women above the depression cut-off point were more likely to be single, childless, to have not viewed the results of the surgical treatment of their relative, and to feel more anxiety regarding screening practices (mammography, pap smears, and breast self-examinations).     

Perception of risk, anxiety, and health behaviors in women at high risk for breast cancer

Perception of risk, anxiety, psychological distress, and early detection behavior were investigated in 23 women with a family history of breast cancer who attended genetic counseling and 21 women without a family history of breast cancer. In addition to a breast cancer-specific questionnaire, the Symptom Checklist 90-Revised and the State-Trait Anxiety Inventory were used. Thirty-nine percent of the women with a family history of breast cancer correctly identified and 48% overestimated their own lifetime risk. Risk perception was independent of genetic counseling. Levels of general psychological morbidity were similar between women with a family history of breast cancer and controls. For controls, early detection behavior was related to lifetime risk estimate and was, in general, independent of level of anxiety. Despite genetic counseling, many women continued to perceive their own lifetime risk of breast cancer inaccurately. They might benefit from additional counseling on risk assessment.     

Predicting perceived vulnerability for breast cancer among women with an average breast cancer risk

Objectives. The purpose of the present study was to investigate predictors of perceived vulnerability for breast cancer in women with an average risk for breast cancer. On the basis of empirical findings that suggested which variables might be associated with perceived vulnerability for breast cancer, we investigated whether knowledge of breast cancer risk factors, cancer worry, intrusions about breast cancer, optimism about not getting cancer and perceived health status have a predictive value for perceived breast cancer vulnerability. Design. In a 3‐step approach, we recruited 292 women from the general public in Germany who had neither a family history of breast cancer nor breast cancer themselves. After receiving an initial informational letter about study objectives, the women were interviewed by telephone and then asked to fill in a self‐administered questionnaire. Methods. We used structural equation modelling and hypothesized that each of the included variables has a direct influence on perceived vulnerability for breast cancer. Results. We found a valid model with acceptable fit indices. Optimism about not getting cancer, intrusions about breast cancer and women's perceived health status explained 32% of the variance of perceived vulnerability for breast cancer. Cancer worry and knowledge about breast cancer did not influence perceived vulnerability for breast cancer. Conclusion. Perceived vulnerability for breast cancer is associated with health‐related variables more than with knowledge about breast cancer risk factors.     

Feeling at risk: how women interpret their familial breast cancer risk

Women's inaccuracy in recalling their breast cancer risk, even immediately after genetic counseling, has received much attention. However, scarce data are available about how women describe their risk in their own words and about what the risk information actually means to them. The present study aims to address interpretations questions and to assess whether these are congruent with the objective risk. Face-to-face interviews were conducted with 123 women immediately after their (initial) counseling session. N-Vivo software was used to describe the data. The level of accuracy of recall depended strongly on the leniency of the criterion applied. For example, the level of verbal accuracy ranged from 25.8% (an exact match with the verbal label) to 98.4% (a more global awareness of having a high versus a low risk). In assessing the significance of personal risk information, we identified a wide variety of risk beliefs, and stress and coping responses. In general, women associated their risk with the medical options, for example, breast screening, that were available for them given their risk status. The results indicate that the accuracy of recall might be a limited outcome measure for the effectiveness of genetic counseling. First, this is because the level of accuracy of recall depends on how rigorously accuracy is defined. Secondly, because the probability of occurrence is just one of the elements comprising perceived risk, accuracy might rather apply to the distress, and to risk management behaviors that are elicited by the risk information. These beliefs that women hold about their risk status, and concomitant levels of stress should play a prominent role in genetic counseling.     

Lobulitis is a frequent finding in prophylactically removed breast tissue from women at hereditary high risk of breast cancer

The aim of this study was to investigate closely the nature of premalignant lesions that occur in prophylactically removed breast tissue from patients at hereditary high risk of breast cancer. Breast tissues obtained from 41 patients who underwent prophylactic mastectomy (pM) because of a hereditary high risk of breast cancer and control tissues from 82 age-matched healthy controls who underwent breast reduction surgery were screened for premalignant lesions. Premalignant and malignant lesions were more frequent (p = 0.0016) in pM samples (5/41) than in controls (1/82). Interestingly, lobulitis, defined as more than 100 lymphocytes and/or plasma cells per lobule in more than one section in morphologically normal lobules, was encountered in 21 of 41 (51%) pM patients, in contrast to only 8 of 82 (10%) controls (p < 0.0001). Preliminary observations indicate a predominance of T-cells in these infiltrates, in agreement with the already known frequent presence of lymphocytic infiltration in hereditary ductal in situ and infiltrating ductal/medullary carcinomas. This novel finding implies an immune reaction to an as yet unidentified antigen frequently present in women at hereditary high risk of breast cancer, possibly as part of an early carcinogenic event.     

Sleep disturbances in asymptomatic BRCA1/2 mutation carriers: women at high risk for breast–ovarian cancer

This study investigated the association between positive genetic diagnosis for BRCA1/2 mutations and sleep quality in Ashkenazi asymptomatic women. Seventy‐three women, including 17 asymptomatic BRCA1/2 carriers and 20 non‐carriers from the oncogenetic clinic, and 36 community controls, participated in a cross‐sectional design. Women completed sociodemographic, clinical, general psychological distress, cancer‐related worry (CRW), fatigue and sleep questionnaires in their homes, and wore actigraphs for 5–7 nights. Impaired global subjective sleep quality was demonstrated in BRCA1/2 carriers compared to non‐carriers and controls [mean Pittsburgh sleep quality index (PSQI) total scores 7.29 ± 4.34; 3.94 ± 2.49; 4.21 ± 2.80, respectively, P = 0.021] and poor sleep quality (PSQI total score >5) was significantly higher in carriers (53%) compared to non‐carriers (20%) and controls (28%, P = 0.03). Based on actigraphic measures, sleep latency tended to be longer in carriers compared to counterparts, albeit not significantly. Increased sleep disturbance was related significantly to increased fatigue in the entire sample and in the control group; to psychological distress in the entire sample and in non‐carriers; and to CRW in the entire sample. In carriers, sleep disturbance was related strongly but non‐significantly to fatigue, psychological distress and CRW. Fatigue and carrier status were significant predictors of sleep quality, accounting for 15.7% of the variance. In conclusion, asymptomatic BRCA1/2 carriers experience poor sleep quality compared to non‐carriers and controls. Our study design is unique in that it offers insight regarding the nature of being an asymptomatic carrier, and affords the opportunity to examine factors that may contribute to the development of insomnia in women at risk for breast–ovarian cancer.     

Distress and psychiatric morbidity among women from high-risk breast and ovarian cancer families

This study assessed psychological distress and psychiatric disorder in high-risk women enrolled in a hereditary breast and ovarian cancer registry, and it evaluated the concordance between self-report data and interview-based psychiatric diagnosis. A sample of 464 women completed the Hopkins Symptom Checklist-25 and were interviewed using modules of the Structured Clinical Interview for DSM-IV. Level of psychological distress and the prevalence of psychiatric disorder were low and in the range that would be expected for a sample of community-residing women. Screening proved inefficient: Less than 10% of distressed women met criteria for a clinical disorder. High-risk women seeking genetic testing in research settings may not require extensive psychological screening and diagnostic assessment. Caution is expressed about possible self-selection biases in women enrolled in hereditary cancer registries.     

Breast cancer screening in women at high risk using MRI

A series of prospective comparative studies have demonstrated that MRI has approximately twice the sensitivity of X‐ray mammography for screening women at high familial risk of breast cancer. In these studies, lesions have often been detected at an early stage, with disease being small and predominantly node negative. The diagnostic features in relation to risk and the biological behaviour of disease with risk category and age are being evaluated. The results of these studies have resulted in revised recommendations for screening for women at high risk of breast cancer. In this article, the results of the UK Magnetic Resonance Imaging in Breast Cancer Screening (MARIBS) study of MRI screening are described, and compared with results from other studies. Risk factors identifying women who would benefit from MRI screening are discussed, MRI measurement methods are described, and the results of studies evaluating MRI and mammographic lesions in different risk groups are reviewed. Recommendations for screening women at high risk of breast cancer published by the American Cancer Society and from the National Institute for Health and Clinical Excellence (NICE) in the UK are summarised. Copyright © 2008 John Wiley & Sons, Ltd.     

Clinical,pathological and genetic features of women at high familial risk of breast cancer undergoing prophylactic mastectomy

Prophylactic mastectomy (PM) is a risk-management option for women at high familial risk of breast cancer (BC). This study describes the PM experience of women enrolled in a large observational cohort study involving families with a history of hereditary breast cancer. Within 357 multiple-case BC families [119 (33%) BRCA1 or BRCA2 mutation positive], identified via family cancer clinics, 49 cases of PM [21 (43%) BRCA1 or BRCA2 mutation positive] were identified and their clinical, pathological and genetic features reviewed. Families with at least one incidence of PM displayed stronger breast/ovarian cancer histories than did families without PM. Median age at time of PM was 45 years (range 28-58). Ten cases (21%) were bilateral PMs in unaffected women and 39 cases were contralateral PMs in women with prior invasive BC (71%) or ductal carcinoma in situ (DCIS) (8%). Most (88%) underwent total mastectomy. Unnecessary axillary surgery occurred in eight subjects (16%). Malignant histology was found in three PM specimens (6%). Prior to genetic testing, PM was performed in two women who were subsequently shown not to carry the mutation specific to their family. Optimal utilization of genetic testing to guide surgical decision making, appropriate surgical technique and careful pathology examination of PM specimens, are important issues to consider prior to PM in women at high familial risk of BC.     

Exploratory study of the feasibility and utility of the colored eco-genetic relationship map (CEGRM) in women at high genetic risk of developing breast cancer

We report here the results of an exploratory feasibility study of the colored eco-genetic relationship map (CEGRM), a novel, recently-developed psychosocial assessment tool, which incorporates features of the genetic pedigree, family systems genogram, and ecomap. The CEGRM presents a simple, concise, visual representation of the social interaction domains of information, services, and emotional support through the application of color-coded symbols to the genetic pedigree. The interactive process of completing the CEGRM was designed to facilitate contemporary genetic counseling goals of: (a) understanding the client in the context of her/his social milieu; (b) bolstering client self-awareness and insight; (c) fostering active client participation and mutuality in the counseling interaction; (d) eliciting illuminating social narratives; and (e) addressing outstanding emotional issues. Twenty women participating in a breast imaging study of women from families with BRCA1/2 mutations completed and evaluated various aspects of the CEGRM. We found that efficient construction of the CEGRM was feasible, and that compliance was excellent. Participants developed insights into their social milieu through observing the visual pattern of relationships illustrated by the CEGRM. The process of co-constructing the CEGRM fostered the participant's active involvement in the session, marked by mutuality and increased empathy. In this clinical research context, the participants felt free to share poignant stories about their friends and families. Further studies are planned to refine the CEGRM and to examine its utility in cancer genetics research.