Management of a woman with a family history of breast cancer

Recent media publicity about breast cancer has caused concern for many women. Most women with a relative with breast cancer are not at substantially increased risk. NICE released revised guidelines in 2004 classifying women into risk groups. When a woman presents with concerns, it is important to take a full family history. For those that fit into a high-risk group, referral to tertiary care may be appropriate. Genetic testing of BRCA1 and BRCA2 may be offered in families where there is a living affected family member to test first and can be offered to unaffected individuals when there is Ashkenazi Jewish background. Breast management options for those at high risk include breast screening from a young age. MRI screening also appears to be useful. The efficacy of ovarian screening is being studied although it is known that prophylactic oophrectomy before menopause reduces the risk of both breast and ovarian cancer. Prophylactic mastectomy is also an option for these women. Genetic counselling and psychosocial support are important.     

Does breast cancer genetic counselling meet women's expectations? A qualitative study

A high demand exists in the United Kingdom for breast cancer genetic counselling. Due to the disease's high incidence, many women who received such counselling are eventually assessed as not being at high genetic risk. This study elicits the experiences and perceptions of such women, as little research has been conducted. A qualitative interview-based study was conducted in the north-east of Scotland with a sample of women at low to moderate risk of developing breast cancer, who had received genetic counselling. The interviews addressed the women's reasons for attending genetic counselling, their prior expectations and their perceptions of the outcomes of counselling. A thematic analysis was conducted to identify the key themes. The women themselves were mainly responsible for raising concerns regarding family history and, in general, sought information and reassurance about their own risk. Whilst they generally felt reassured after counselling, many did not understand the information they had been given and some continued to overestimate their own risk of disease. For many an important motivation for seeking counselling was to receive (more frequent) mammography screening, for which they perceived the genetic counsellors as gatekeepers. Some also expected a genetic test. The study findings were consistent with much of the published literature. Genetic counsellors must understand that genetic information, especially the risk as perceived, is not always well understood. This in turn may influence the further communication of risk information within the family. Also, people coming forward for genetic counselling may not be aware of some of the unintended consequences of such counselling, such as, for example, having to declare information to insurance companies and/or (potential) employers. If primary care practitioners are the main route through which people reach genetic counsellors, these professionals need to be kept up to date on issues related to genetics, and genetic testing and counselling.     

A breast cancer prediction model incorporating familial and personal risk factors

Many factors determine a woman's risk of breast cancer. Some of them are genetic and relate to family history, others are based on personal factors such as reproductive history and medical history. While many papers have concentrated on subsets of these risk factors, no papers have incorporated personal risk factors with a detailed genetic analysis. There is a need to combine these factors to provide a better overall determinant of risk. The discovery of the BRCA1 and BRCA2 genes has explained some of the genetic determinants of breast cancer risk, but these genes alone do not explain all of the familial aggregation of breast cancer. We have developed a model incorporating the BRCA genes, a low penetrance gene and personal risk factors. For an individual woman her family history is used in conjuction with Bayes theorem to iteratively produce the likelihood of her carrying any genes predisposing to breast cancer, which in turn affects her likelihood of developing breast cancer. This risk was further refined based on the woman's personal history. The model has been incorporated into a computer program that gives a personalised risk estimate.     

Association between family history of cancer and breast cancer defined by estrogen and progesterone receptor status

There are recent data to suggest that risk factors for breast cancer may differ according to whether the tumor expresses detectable levels of the estrogen receptor (ER) and progesterone receptor (PR). While a family history of breast cancer is one of the most consistent predictors of the disease, we recently reported a modest inverse association with ER+PR− tumors. However, the definition of a family history of cancer did not consider second-degree relatives or cancer sites that may be etiologically related. The current report presents additional data analysis from the Iowa Women's Health Study, a prospective population-based cohort study conducted among 41,837 postmenopausal women. At baseline in 1986, respondents provided information on family history of cancers of the breast, ovaries, or uterus/endometrium in their mothers, sisters, daughters, maternal and paternal grandmothers, and maternal and paternal aunts. Data on family history of prostate cancer in fathers and brothers and age at onset of breast cancer in mothers and sisters were collected in 1992. Cohort members were followed for cancer incidence through the statewide tumor registry. After 7 years and more than 235,000 person-years of follow-up, 939 incident cases of breast cancer were identified. Information was obtained from the tumor registry on ER (+/−) and PR (+/−) status for 610 cases (65.0%). A family history of breast cancer in first-degree relatives was associated with increased risk (relative risk [RR] = 1.4; 95% confidence interval [CI]: 1.1–1.6) for all receptor-defined subtypes of breast cancer except ER+PR− tumors (RR = 0.7; 95% CI: 0.3–1.4). These results were unchanged when data on second-degree relatives were included. When the onset of breast cancer in relatives occurred at or before the age of 45 years, increased risks were evident only for ER−PR+ and ER−PR− tumors (RR = 2.3 and 3.3, respectively). Conversely, when relatives were affected with breast cancer after the age of 45 years, increased risks were most apparent for ER+PR+ and ER−PR+ tumors (RR = 1.3 and 3.2, respectively). A family history of prostate cancer in first-degree relatives was associated with a 1.2-fold increased risk of breast cancer (95% CI: 0.98–1.50), largely a reflection of the association with ER−PR− tumors (RR = 1.5; 95% CI: 0.8–3.0). The small numbers of cases in some categories and the corresponding wide CIs preclude definitive conclusions, but these data are at least suggestive that joint stratification of breast tumors on ER and PR status may be useful in partitioning breast cancer families into more homogeneous subsets. © 1996 Wiley-Liss, Inc.     

It won't happen to me: lower perception of heart disease risk among women with family histories of breast cancer

BACKGROUND: The threat that breast cancer poses to American women, particularly to women with family histories of the disease, has received widespread attention in both medical and popular literatures. While this emphasis may have laudable consequences on breast cancer screening, it may also have a negative consequence, obscuring women's recognition of their risks for other health threats, such as heart disease. This study examined the possibility that women with family histories of breast cancer may be particularly susceptible to overestimating their risks of breast cancer while minimizing their risks of cardiovascular disease. METHODS: Healthy women with (n = 73) and without n = 104) family histories of breast cancer (64% African American, 26% Caucasian, 10% other ethnicities, mean age 41.7 years) were recruited from medical centers in New York City, and completed questionnaires concerning their family histories and perceptions of risk. RESULTS: Consistent with the study hypothesis, women with family histories of breast cancer had significantly higher perceived lifetime risk of breast cancer (P<0.0002) but lower perceived lifetime risk of heart disease (P<0.002) than women without family histories. Additionally, women with family histories of breast cancer had lower perceived colon cancer risk (P<0.02), suggesting that women with family histories of breast cancer may be underestimating their risks for a variety of diseases. CONCLUSION: The emphasis on breast cancer risk, especially for women with family histories of the disease, may need to be balanced by educational efforts concerning women's risk of other diseases, particularly cardiovascular disease.     

Use of dietary supplements among women at high risk of hereditary breast and ovarian cancer (HBOC) tested for cancer susceptibility

Although use of dietary supplements among women with breast cancer is high, use among women at high risk of hereditary breast and ovarian cancer (HBOC) is unknown. This study assesses the prevalence of use of dietary supplements and identifies characteristics associated with use among women at high risk of HBOC who underwent genetic testing for cancer susceptibility. Participants were 303 women who underwent BRCA1/2 testing as part of Interdisciplinary Health Research International Team on Breast Cancer Susceptibility. Dietary supplements use was measured 12 mo post-disclosure. Potential determinants of use included personal cancer history, test result, psychological distress, cancer genetics knowledge, and health-related behaviors. Globally, 51% of participants used at least one dietary supplement. Calcium (26%), multivitamins (17%), vitamins D (14%), E (12%), and C (10%) were most frequently reported. Women > or = 50 yr were more likely to be using dietary supplements (P < 0.0001). Women with an inconclusive test result were more likely to use mineral supplements than noncarriers [odds ratio (OR) = 2.6; 95% confidence interval (CI) = 1.3-5.3]. Cigarette smoking was negatively associated with use of vitamin supplements (OR = 0.3; 95% CI = 0.1-0.7). Use of dietary supplements among women at high risk of HBOC who underwent BRCA1/2 testing is as frequent as use among patients with other types of tumors or use among individuals from the general population.     

Pilot study of an information aid for women with a family history of breast cancer

Objective

To develop and pilot study an information aid for women with a family history of breast cancer.

Design, setting and participants

The information aid, consisting of a booklet and audiotape, was developed by a multi-disciplinary team of health care professionals, breast cancer survivors and their relatives. Women with no personal history of breast cancer, on the waiting list for a familial breast cancer clinic at either of two centres, who could read English, were eligible for the pilot study which consisted of three sets of mailed questionnaires.

Main outcome measures

The baseline questionnaires included: demographic information: the Breast Cancer and Heredity Knowledge Scale (BCHK); psychological measures (the State-Trait Anxiety Inventory [STAI], Centre for Epidemiologic Studies Depression Scale [CES-D] and an item about breast cancer worry), and an item about breast cancer risk perception. Immediately after reviewing the information aid, participants completed a satisfaction survey, the risk perception and cancer worry items and a checklist about their personal family history. The third set of questionnaires, completed 2–4 weeks after reviewing the aid, was identical to the first. Patients then attended their scheduled clinic visit and an objective hereditary breast cancer risk assessment was made by the genetic counselling team.

Results and conclusions

Of 97 eligible women who were contacted, 67 completed all three sets of questionnaires. Overall, women were very satisfied with the aid and 96% would recommend it to other women. There was a highly significant improvement in their knowledge scores after they reviewed the aid. Anxiety and depression did not change and there was a decline in breast cancer worry. Risk perception did not change significantly. Ninety per cent of women completed their personal family history checklist accurately. Several important improvements have been made in the information aid and it will now be evaluated in the community.

     

Validation,calibration and refitting of a familial breast cancer model in sisterships: a case study in the Swedish sisters data

In Sweden, a unique data set has been compiled with breast cancer incidence in all sisterships with at least two sisters born between 1932 and 2001, and the effect of family history has been analyzed by standard epidemiological methods. Such data are ideal to explore the validity of existing models for familial breast cancer. This paper explores the validity of the Jonker model that adds a hypothetical gene to the well‐known BRCA1 and BRCA2 genes. The validity of the model for the Swedish data is checked by using a calibration model for breast cancer incidence given the (retrospective) family history as assessed at the end of the study period. This enables the validity of the overall incidence and the effect of family history to be assessed in the same model. The conclusion is that the existing model does reasonably well for the effect of family history but is seriously wrong for the early incidence rate. Therefore, the model is refitted in the Swedish data. Finally, the calibration of the refitted model is checked when using current family history as used in the epidemiological studies. The refitted Jonker model fits the data well and shows good agreement with the epidemiological findings. Copyright © 2013 John Wiley & Sons, Ltd.     

广东省农村妇女乳腺癌筛查及防治知识现况分析

目的 了解广东省农村妇女乳腺癌筛查情况,以及筛查对象乳腺癌防治知识现状,为降低乳腺癌发病率提供依据。方法 采用多阶段随机抽样方法,于2009-2011年对广东省6个项目县31 209名农村妇女进行乳腺检查及乳腺癌防治知识调查。结果 检查对象乳腺癌防治知识获取途径以本次提供免费检查服务时发放宣教手册（62.04%）和广播电视专题节目宣传（45.36%）为主,检查对象有9条乳腺癌防治知识的回答正确率均>93.26%,但乳腺自我检查方法知晓率相对较低（77.05%）;所有检查对象中,接受乳腺视诊触诊检查者占88.20%,左右乳阳性率分别为7.77%和7.75%;接受乳腺超声检查者占69.66%,左右乳阳性率分别为0.93%和0.87%;接受乳腺X线检查者占4.28%,左右乳阳性率分别为3.37%和3.89%;建议活检者共342人,实际活检20人,活检依从率为5.85%,活检共发现乳腺癌10例,乳腺癌检出率为3.20/万。结论 广东省农村妇女乳腺癌防治知识知晓率较高,活检依从率较低,还应进一步加强适宜的宣教措施。     

2012年新疆农村妇女宫颈癌和乳腺癌筛查项目结果分析

目的：分析2012年度新疆农村妇女宫颈癌和乳腺癌检查结果,探讨新疆“两癌”流行趋势与特点,为在新疆推广筛查工作提供科学依据。方法对筛查项目结果进行描述性分析。结果妇科常见疾病检出患病人数20．1万人（56．10％）,检出率较高依次为塔城地区（74．56％）、阿克苏地区（64．35％）和伊犁州（61．42％）。新疆农村妇女宫颈癌和癌前病变检出率为0．10％,宫颈癌早诊率为85．05％,检出率高的为巴州（0．26％）和博州（0．18％）。妇女乳腺癌检出率为0．05％,检出率高的为吐鲁番地区（0．27％）和克州（0．25％）。结论新疆妇女宫颈癌和乳癌检出率高于全国同期平均水平,加强重点人群“两癌”防治知识健康教育,积极参加“两癌”筛查,是提高“两癌”早诊早治的关键。     

妇女乳腺癌与服用蜂王浆保健品等因素的病例对照研究

目的：探讨南京地区300名妇女对乳腺癌与服用保健品特别是蜂王浆等保健品的关系。方法：运用病例对照研究的方法,抽取300对病例与对照,进行问卷调查,运用SAS8．0软件进行单因素和多因素条件Logistic回归分析。结果：参与回归分析的有25个变量中,服避孕药的OR值为2．357、乳腺疾病史OR值为2．823,而服用蜂王浆等保健品对乳腺癌的发生没有影响。结论：服用蜂王浆等保健品没有对妇女乳腺癌的发生产生影响,减少服用避孕药和减少乳房疾病可以降低乳腺癌的发生。     

Development and pilot‐testing of a Decision Aid for use among Chinese women facing breast cancer surgery

Background Women choosing breast cancer surgery encounter treatment decision‐making (TDM) difficulties, which can cause psychological distress. Decision Aids (DAs) may facilitate TDM, but there are no DAs designed for Chinese populations. We developed a DA for Chinese women newly diagnosed with breast cancer, for use during the initial surgical consultation. Aims Conduct a pilot study to assess the DA acceptability and utility among Chinese women diagnosed with breast cancer. Methods Women preferred the DA in booklet format. A booklet was developed and revised and evaluated in two consecutive pilot studies (P1 and P2). On concluding their initial diagnostic consultation, 95 and 38 Chinese women newly diagnosed with breast cancer received the draft and revised draft DA booklet, respectively. Four‐day post‐consultation, women had questionnaires read out to them and to which they responded assessing attitudes towards the DA and their understanding of treatment options. Results The original DA was read/partially read by 66/22% (n = 84) of women, whilst the revised version was read/partially read by 74/16% (n = 35), including subliterate women (χ² = 0.76, P = 0.679). Knowledge scores varied with the extent the booklet was read (P1: F = 12.68, d.f. 2, P < 0.001; P2: F = 3.744, d.f. 2, P = 0.034). The revised, shorter version was graphically rich and resulted in improved perceived utility, [except for the ‘treatment options’ (χ² = 5.50, P = 0.019) and ‘TDM guidance’ (χ² = 8.19, P = 0.004) sections] without increasing anxiety (F = 0.689, P = 0.408; F = 3.45, P = 0.073). Conclusion The DA was perceived as acceptable and useful for most women. The DA effectiveness is currently being evaluated using a randomized controlled trial.     

Validation of family history of breast cancer and identification of the BRCA1 and other syndromes using a population-based cancer registry

A major risk factor for breast cancer is family history of the disease in first-degree relatives. This study evaluates the validity of family history information on breast cancer in mothers and sisters of breast cancer probands from the cancer registry (CR) compared to personal interviews (PI) of 359 consecutive population-based cases of breast cancer. Breast cancer is seen in mothers of 14% of probands by CR compared to 12% by PI. Further, 13% of probands have a sister with breast cancer using CR compared to 12% by PI. Using PI as the standard, the sensitivity of the CR family history data in mothers is 92% and the specificity is 99%, while in sisters they are 88% and 99%, respectively. These estimates were calculated on cases where family history information is available in the CR. Sensitivity and specificity are recalculated, recording an “error” whenever family history information is not available, and they are 75% and 68%, respectively, for mothers and 72% and 70%, respectively, for sisters. Estimates of proband-mother and proband-sisters familial breast cancer from CR and PI are sufficiently similar to warrant the use of CR family history data in studies of genetic epidemiology. The family phenotype consistent with the BRCA1 syndrome was found in four (1.1%) probands, all below age 50 years, while for BRCA2 there were five (1.4%) probands, three below age 50 years and two 50 years or older. Site-specific familial breast cancer was found in 23 (6.4%) probands. Population-based multiple-case breast cancer families can rapidly be identified through CR. These families can make substantial contributions to the study of genetic and environmental etiology of the disease as well as benefit from preventive and therapeutic efforts. As new knowledge and tools in molecular genetics become available, there is an urgent need for large population-based registries of families at high risk for cancer. © 1996 Wiley-Liss, Inc.     

Exploring breast cancer screening barriers among Barbadian women: a focus group study of mammography in a resource-constrained setting

Breast cancer affects women worldwide. Early detection strategies, notably mammography, aim to reduce mortality from breast cancer. However, mammography is a costly screening tool, generates controversy in terms of its impact and adverse effects, and its uptake remains low among some populations. This qualitative study (12 focus groups with 110 participants) explored experiences with mammography among Barbadian women by investigating how barriers are negotiated in a setting of resource-constrained health care provision without a national screening programme. The study findings indicate that, firstly, Barbadian women have to actively seek understanding of both breast cancer and the mammography process. Women described how, with little public awareness and knowledge, they borrow from available public health information on diabetes and HIV/AIDS to give meaning to mammographic screening. Secondly, many women expressed their fear about mammography and its potential consequences, such as experiencing social stigma and losing a romantic relationship after diagnosis. Thirdly, the cost of screening for women who opted for the more reliable private facilities was discussed, along with the potential cost of health care following a diagnosis and the emotional cost of enduring the societal taboo of breast cancer. If breast cancer screening is to be acceptable for this or similar populations, there should be provision of additional services to ensure better access to free screening or alternative strategies, as well as post-diagnostic social and financial support. The policies to develop these services must also address women’s concerns about screening and breast cancer, and provide comprehensive information to allow informed decisions about screening.     

Employment-contingent health insurance, illness, and labor supply of women: evidence from married women with breast cancer

We examine the effects of employment-contingent health insurance (ECHI) on married women's labor supply following a health shock. First, we develop a theoretical framework that examines the effects of ECHI on the labor supply response to a health shock, which suggests that women with ECHI are less likely to reduce their labor supply in response to a health shock, relative to women with health insurance through their spouse's employer. Second, we empirically examine this relationship based on labor supply responses to breast cancer. We find that health shocks decrease labor supply to a greater extent among women insured by their spouse's policy than among women with health insurance through their own employer, suggesting that ECHI creates incentives to remain working when faced with a serious illness.     

Psychometric properties and responsiveness of the EORTC Quality of Life Questionnaire (QLQ-C30) in patients with breast,ovarian and lung cancer

The QLQ-C30, a health-related quality of life questionnaire developed for use in patients with cancer, has been previously validated in patients with lung cancer and head and neck cancer. In this study, further validation was carried out for 535 patients, including patients with breast cancer (n=143) and ovarian cancer (n=111) for whom there is no previously published validation, as well as patients with lung cancer (n=121). All patients were entered in one of two trials of anti-emetics to prevent chemotherapy-induced emesis. The QLQ-C30 was completed before chemotherapy and on day 8 after chemotherapy. The factor structure in patients with breast and ovarian cancer was similar to that previously described. Interdomain correlations, in the entire group, were strongest for the physical and role function domains and the fatigue, pain and global quality of life.domains before and after chemotherapy. In addition, after chemotherapy, social function was also strongly correlated with fatigue and global quality of life. These correlations were not always of equal strength in the breast, ovarian and lung groups, suggesting that there may be differences between these groups. The responsiveness of the QLQ-C30 in the presence of widely metastatic, as compared with locoregional, disease showed changes in the expected directions (i.e., diminished function in physical and social role functions and in global quality of life, with greater fatigue and pain in patients with metastatic disease). Eight days after chemotherapy, decreases were seen in physical, role and social functioning and in global quality of life, and there was greater fatigue, nausea and vomiting compared with before chemotherapy. Patients with breast cancer had better physical, role and social functioning, and less fatigue and pain than patients with ovarian cancer. This result is expected, since many of the patients with breast cancer had early stage disease, whereas those with ovarian cancer had advanced stage disease. Mean scores for patients with lung cancer were between the other two groups, in keeping with the mixture of early and advanced stage disease in these patients. There was a strong correlation between ECOG performance status scores and several domains of the QLQ-C30; these were all in the expected directions. The results of this study confirm those in earlier studies on patients with lung cancer, and provide new information on patients with breast and ovarian cancer. In addition, the QLQ-C30 is responsive to the effects of chemotherapy and of metastatic disease.