Breast Risk Reduction Research Articles

Exploring the informational needs and use of information by patients undergoing risk-reducing breast surgery: a qualitative study

ABSTRACT Women with a pathogenic variant in a breast cancer susceptibility gene undergoing a risk-reducing mastectomy have poorly understood informational needs. Information contributes to individuals achieving their full health potential and is essential in informed decision-making. Whilst many women are satisfied with their decision to have risk-reducing surgery, some will experience regret. Informed decision-making may be important in reducing any associated psychological harm. This study aimed to explore satisfaction with information accessed by patients regarding their risk-reducing mastectomy and better understand their informational needs for risk-reducing surgery decision-making Semi-structured interviews were conducted pre- and post-operatively with 22 women undergoing risk-reducing mastectomies for BRCA1/2 pathogenic variants with no breast cancer history at the Nottingham Breast Institute. Inductive thematic analysis was conducted. Four themes were constructed: Sources of information, Informational needs, Uses of information and Impacts of information. A broad spectrum of information sources were used with an apparent hierarchy. Information from clinicians and lived experiences were preferred to written and online sources. Some participants felt their informational needs were met, others found the information contradictory, cancer-focused and jargon filled. Participants required information early enough to be useful. Informational needs differed between individuals which affected the desired format. Participants informational needs were distinct from women with breast cancer undergoing a mastectomy. Encouraging active and informed decision-making could be important to reduce regret and the associated psychological harm some women experience following a risk-reducing mastectomy. This research offers insights into the informational needs of this distinct cohort and recommendations will guide patient information development.

Effectiveness of evidence-based decision aids for women with pathogenic BRCA1 or BRCA2 variants in the german health care context: results from a randomized controlled trial

BackgroundWomen with pathogenic BRCA1 or BRCA2 variants are at high risk for breast and ovarian cancer. Preventive options include risk-reducing breast and ovarian surgeries and intensified breast surveillance. However, individual decision-making is often associated with decisional conflicts. Two evidence-based decision aids have recently been developed for these women (healthy or with unilateral breast cancer) for the German context to support them in their decision-making process. This study evaluated their effectiveness.MethodsIn a randomized controlled study, women (aged 18–70 years) with pathogenic BRCA1 or BRCA2 variants were randomly assigned 1:1 to the intervention (IG, n = 230) or control (CG, n = 220) group. All participants received usual care. After baseline survey (t0), IG participants additionally received the DAs. Follow-up surveys were at three (t1) and six (t2) months. Primary outcome was decisional conflict at t1. Secondary analyses included decision status, decision regret, knowledge on risks and preventive options, self-reported psychological symptoms, acceptability of DAs, and preparation for decision-making.ResultsOf 450 women recruited, 417 completed t0, 398 completed t1 and 386 completed t2. Compared to CG, IG participants had lower decisional conflict scores at t1 (p = 0.049) and t2 (p = 0.006) and higher scores for knowledge (p = 0.004), acceptability (p = 0.000), and preparation for decision-making (p < 0.01).ConclusionsThese DAs can help improve key parameters of decision-making in women with pathogenic BRCA1 and BRCA2 variants and, thus, provide a useful add-on to the current counseling and care concept for these women in Germany.Trial registrationGerman Clinical Trials Register, DRKS-ID: DRKS00015823, retrospectively registered 14/06/2019.

Breast cancer referrals to NHS Tayside genetic service: Are we meeting target timelines?

Abstract Introduction: Mutations in BRCA1 and BRCA2 account for 5%–10% of all female breast cancers. Identifying these mutations at diagnosis can aid shared decision-making in the surgical and oncological setting. This study aims to assess the results of genetic testing at diagnosis and the time taken to receive results. Materials and Methods: A prospective database of all patients with newly diagnosed breast cancers who met the criteria and were referred for urgent genetic testing in National health service (NHS) (Tayside) between December 2017 and December 2020 was analyzed for results of genetic testing and time from referral to the result of genetic test. Results: Twelve of 116 patients (10.3%) had a mutation detected. Six had BRCA2 mutation (5.2%), four had BRCA1 mutation (3.4%), and two had PALB2 mutation (1.7%). Of patients with a mutation, six (50%) had triple-negative breast cancer aged &lt;40 years, four (33.3%) had triple-negative breast cancer aged &gt;40 years, and two (16.7%) had breast cancer aged &lt;40 years. The median time from referral to test result was 28 days [interquartile range (IQR) 22–36.5 days]. Of 12 patients with a mutation, seven (58.3%) chose risk-reducing breast surgery at the primary operation with immediate reconstruction. Conclusions: Triple-negative receptor status was common in patients who had gene mutations, including those aged over 40, and this group of patients should be considered for genetics referral. The time to receive the genetic test result may add delay to subsequent surgical management. Urgent genetic testing led to risk-reducing breast surgery and immediate reconstruction in a minority of patients tested.

Risk-Reducing Breast and Gynecological Surgery for BRCA Mutation Carriers: A Narrative Review.

This narrative review aims to clarify the role of breast and gynecological risk-reduction surgery in BRCA mutation carriers. We examine the indications, contraindications, complications, technical aspects, timing, economic impact, ethical issues, and prognostic benefits of the most common prophylactic surgical options from the perspectives of a breast surgeon and a gynecologist. A comprehensive literature review was conducted using the PubMed/Medline, Scopus, and EMBASE databases. The databases were explored from their inceptions to August 2022. Three independent reviewers screened the items and selected those most relevant to this review's scope. BRCA1/2 mutation carriers are significantly more likely to develop breast, ovarian, and serous endometrial cancer. Because of the Angelina effect, there has been a significant increase in bilateral risk-reducing mastectomy (BRRM) since 2013. BRRM and risk-reducing salpingo-oophorectomy (RRSO) significantly reduce the risk of developing breast and ovarian cancer. RRSO has significant side effects, including an impact on fertility and early menopause (i.e., vasomotor symptoms, cardiovascular disease, osteoporosis, cognitive impairment, and sexual dysfunction). Hormonal therapy can help with these symptoms. Because of the lower risk of developing breast cancer in the residual mammary gland tissue after BRRM, estrogen-only treatments have an advantage over an estrogen/progesterone combined treatment. Risk-reducing hysterectomy allows for estrogen-only treatments and lowers the risk of endometrial cancer. Although prophylactic surgery reduces the cancer risk, it has disadvantages associated with early menopause. A multidisciplinary team must carefully inform the woman who chooses this path of the broad spectrum of implications, from cancer risk reduction to hormonal therapies.

10 years of changing trends in reconstructive choices in patients presenting to the Guildford gene carrier clinic

Background: The Guildford dedicated gene carrier clinic identifies, counsels, and optimises surgical decision making of patients carrying high risk cancer predisposition genes. Currently 4 genes are identified, and carriers can discuss breast risk reduction (BRR) surgery. We reviewed the type of surgery chosen and trend over 10 years to improve future resource management.

Single stage risk-reducing breast and gynecologic surgery for hereditary predisposition to breast and ovarian cancer

Objectives: We sought to evaluate the perioperative outcomes of patients undergoing single-stage breast and gynecologic surgery for either breast cancer or a hereditary breast and ovarian cancer syndrome (HBOC). Methods: All patients with documented genetic testing undergoing single-stage breast and gynecologic extirpative surgery for breast cancer or an HBOC syndrome with or without immediate breast reconstruction were included. Perioperative outcomes including intraoperative, Results: Forty-three patients underwent single-stage surgery between September 2015 and July 2020 at a single academic tertiary referral hospital. Most patients underwent combined surgery for breast cancer (81.3%) and concurrent gynecologic prophylaxis (97.7%). Median patient age was 48 years and median BMI was 26.8 kg/m2. There were 33 patients (76.7%) with a pathogenic genetic mutation, the most common of which was BRCA1 (41.9%). All breast surgeries were mastectomies, 90.7% of which were bilateral; 48.8% included axillary lymph node dissection. The majority (88.4%) of breast extirpative procedures were followed by immediate reconstruction. The gynecological procedures were most commonly performed via conventional laparoscopy (55.8%): Fifty-eight percent of patients underwent total hysterectomy and bilateral salpingo-oophorectomy (BSO) and 37.5% underwent BSO alone. Median total operative time was 459.5 minutes (74-818 min). Median length of hospital stay was four days (1-14 d), and median estimated blood loss was 25cc (25-200 cc). The only intraoperative complication was a breast reconstructive flap failure that required vascular reanastomosis. Overall, 34.8% of patients had a complication. Complications during the first 30 post-operative days included four readmissions for reoperation, one venous thromboembolism (VTE), two transfusions, and nine complications of breast surgery (three hematomas, three wound dehiscences, and three surgical site infections). Six of these patients required reoperation Download : Download high-res image (91KB) Download : Download full-size image Conclusions: Single-stage breast and risk-reducing gynecologic surgeries are associated with similar complication rates to multi-stage surgeries with the benefit of providing the patient with a single recovery period. Further studies are encouraged to motivate multi-disciplinary collaboration with the ultimate goal of shorter overall recovery time for patients with breast cancer or an HBOC syndrome.

Development of decision aids for female BRCA1 and BRCA2 mutation carriers in Germany to support preference-sensitive decision-making

BackgroundWomen with pathogenic BRCA1 and BRCA2 mutations possess a high risk of developing breast and ovarian cancer. They face difficult choices when considering preventive options. This study presents the development process of the first decision aids to support this complex decision-making process in the German healthcare system.MethodsA six-step development process based on the International Patient Decision Aid Standards was used, including a systematic literature review of existing decision aids, a topical medical literature review, preparation of the decision aids, focus group discussions with women with BRCA1/2 mutations, internal and external reviews by clinical and self-help experts, and user tests. All reviews were followed by iterative revisions.ResultsNo existing decision aids were transferable to the German setting. The medical research revealed a need to develop separate decision aids for women with BRCA1/2 mutations (A) without a history of cancer (previvors) and (B) with a history of unilateral breast cancer (survivors). The focus group discussions confirmed a high level of approval for the decision aids from both target groups. Additionally, previvors requested more information on risk-reducing breast surgery, risk-reducing removal of both ovaries and Fallopian tubes, and psychological aspects; survivors especially wanted more information on breast cancer on the affected side (e.g. biological parameters, treatment, and risk of recurrence).ConclusionsIn a structured process, two target-group-specific DAs for previvors/survivors with BRCA1/2 mutations were developed to support decision-making on risk-adapted preventive options. These patient-oriented tools offer an important addition to existing specialist medical care in Germany.

Abstract PD10-07: Rna genetic testing improves detection of patients with hereditary breast cancer

Abstract Background: DNA genetic testing is commonly used to inform treatment decisions for breast cancer patients. In recent years, RNA genetic testing has shown promise for increasing the detection of disease-causing variants and decreasing inconclusive results. Here we describe the impact of concurrent DNA and RNA genetic testing on identifying breast cancer patients with germline cancer predisposition who may have been missed by DNA-only testing. Methods: We performed a retrospective review of breast cancer patients who received concurrent DNA and RNA hereditary cancer panel testing between March 2019 and February 2020 at Ambry Genetics. Patients underwent DNA and RNA genetic testing of up to 18 hereditary cancer genes at the discretion of the ordering healthcare provider (APC, ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MSH2, MSH6, MUTYH, NF1, PALB2, PMS2 exons 1-10, PTEN, RAD51C, RAD51D, and TP53). Breast cancer patients with positive results, defined as the presence of a pathogenic or likely pathogenic variant in any of these 18 genes, were selected for inclusion in this study (n=946). Results: Concurrent DNA and RNA genetic testing led to the identification of 23 breast cancer patients with positive results who would have otherwise received inconclusive or negative results with DNA-only testing. These cases represented 2.4% of all positive results reported in the 18 genes studied (n=23/946). The majority of RNA-related positive results occurred in either ATM (n=14) or BRCA1/2 (n=7). The remaining two cases involved alterations in NF1 and PMS2. Guidelines for risk-reducing breast surgery (BRCA1/2) and breast imaging surveillance (ATM, BRCA1/2, NF1) were relevant for 30.4% and 95.7% of patients with RNA-dependent positive results, respectively. In addition, treatment options such as PARP inhibitors or clinical trial eligibility were potentially implicated for 91.3% of RNA-dependent positives (BRCA1/2, ATM). In 16 of the 23 cases, variants would have been detected by DNA-only testing but would have remained inconclusive without supporting RNA data. In the remaining 7 cases, abnormal RNA results led to the identification of pathogenic/likely pathogenic intronic variants beyond the analytical range of DNA testing. Thus, these seven patients would have received negative results from DNA-only testing. Four of these cases involved pathogenic/likely pathogenic intronic variants in ATM and three involved pathogenic intronic variants in BRCA1. Conclusions: One in 41 breast cancer patients who test positive on concurrent DNA and RNA genetic testing would have received negative or inconclusive results from DNA-only testing. These findings demonstrate the impact of a comprehensive diagnostic testing approach that includes concurrent DNA and RNA analysis and highlights the important implications for the personalized management of these breast cancer patients including potential missed opportunities for early detection and prevention of additional cancer and familial testing in the absence of RGT. Citation Format: Holly LaDuca, Lily Hoang, Carolyn Horton, Jessica Profato, Tameron Harvell, Jill S Dolinsky, Tina Pesaran, Rachid Karam. Rna genetic testing improves detection of patients with hereditary breast cancer [abstract]. In: Proceedings of the 2020 San Antonio Breast Cancer Virtual Symposium; 2020 Dec 8-11; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2021;81(4 Suppl):Abstract nr PD10-07.

Factors Associated With Increased Complications in Patients With BRCA Gene Mutations Undergoing Reconstructive Breast Surgery.

Reconstructive breast surgery after bilateral prophylactic mastectomy in patients who carry a mutation of the breast cancer (BRCA) gene has been increasing. Undergoing risk-reducing breast surgery can be of great benefit to young patients who have a high risk of developing breast cancer. There is little available evidence about the rate of complications in these patients and which factors are related to increased complications. The objective of this study was to identify predictors of complications in BRCA gene mutation carriers who underwent reconstructive breast surgery. A single-center, retrospective cohort study was conducted that included all patients with a mutation of the BRCA gene who underwent a breast reconstructive procedure, either immediate or delayed, between January 2013 and March 2019 and received a minimum of 6 months' follow-up. The results of our study showed that smoking is the most important modifiable risk factor associated with an increased complication rate for reconstructive breast surgery in patients with BRCA gene mutation. Smoking cessation will reduce the patient's risk for postoperative complications by 50%; therefore, it should be encouraged in all surgical patients and enforced in patients undergoing prophylactic procedures.

Long-Term Evaluation of Women Referred to a Breast Cancer Family History Clinic (Manchester UK 1987–2020)

Simple SummaryThis study reports the management of women at high risk for breast cancer over a 33 years period. The aim was to summarize the numbers seen and to report the results of our studies on gene testing, the outcomes of screening and the success of preventive methods including lifestyle change, chemoprevention and risk-reducing mastectomy. We also discuss how the clinical Family History Service may be improved in the future.Clinics for women concerned about their family history of breast cancer are widely established. A Family History Clinic was set-up in Manchester, UK, in 1987 in a Breast Unit serving a population of 1.8 million. In this review, we report the outcome of risk assessment, screening and prevention strategies in the clinic and propose future approaches. Between 1987–2020, 14,311 women were referred, of whom 6.4% were from known gene families, 38.2% were at high risk (≥30% lifetime risk), 37.7% at moderate risk (17–29%), and 17.7% at an average/population risk who were discharged. A total of 4168 (29.1%) women were eligible for genetic testing and 736 carried pathogenic variants, predominantly in BRCA1 and BRCA2 but also other genes (5.1% of direct referrals). All women at high or moderate risk were offered annual mammographic screening between ages 30 and 40 years old: 646 cancers were detected in women at high and moderate risk (5.5%) with a detection rate of 5 per 1000 screens. Incident breast cancers were largely of good prognosis and resulted in a predicted survival advantage. All high/moderate-risk women were offered lifestyle prevention advice and 14–27% entered various lifestyle studies. From 1992–2003, women were offered entry into IBIS-I (tamoxifen) and IBIS-II (anastrozole) trials (12.5% of invitees joined). The NICE guidelines ratified the use of tamoxifen and raloxifene (2013) and subsequently anastrozole (2017) for prevention; 10.8% women took up the offer of such treatment between 2013–2020. Since 1994, 7164 eligible women at ≥25% lifetime risk of breast cancer were offered a discussion of risk-reducing breast surgery and 451 (6.2%) had surgery. New approaches in all aspects of the service are needed to build on these results.

Predictors of long-term cancer-related distress among female BRCA1 and BRCA2 mutation carriers without a cancer diagnosis: an international analysis

BackgroundWomen with a BRCA1 or BRCA2 mutation have high lifetime risks of developing breast and ovarian cancers. We sought to estimate the prevalence of cancer-related distress and to identify predictors of distress in an international sample of unaffected women with a BRCA mutation.MethodsWomen with a BRCA1/2 mutation and no previous cancer diagnosis were recruited from the United States, Canada, the United Kingdom, Australia and from a national advocacy group. Using an online survey, we asked about cancer risk reduction options and screening, and we measured cancer-related distress using the Impact of Event Scale.ResultsAmong 576 respondents, mean age was 40.8 years (SD = 8.1). On average 4.9 years after a positive test result, 16.3% of women reported moderate-to-severe cancer-related distress. Women who had undergone risk-reducing breast and ovarian surgery were less likely to have (moderate or severe) cancer-related distress compared to other women (22.0% versus 11.4%, P value = 0.007). Women recruited from the advocacy group were more likely to have cancer-related distress than other women (21.6% versus 5.3%, P value = 0.002).ConclusionsApproximately 16% of women with a BRCA1 or BRCA2 mutation experience distress levels comparable to those of women after a cancer diagnosis. Distress was lower for women who had risk-reducing surgery.

Abstract ES2-3: Managing increased breast cancer risk based on high and moderate penetrance gene mutations

Abstract Genetic testing in the modern era increasingly examines multiple genes using next generation technologies. Most assays include the high penetrance genes, which confer lifetime breast cancer risk greater than 5-fold, include BRCA1/2, TP53, CDH1 and PALB2. Moderate penetrance genes are associated with lifetime breast cancer risk in the range of 2-3 fold, and include ATM, NF1, CHEK2 (mutation-specific) and NBN, with BARD1 and others potentially joining the group. Substantial data has emerged from studies of women with BRCA1/2 mutations, evaluating the performance of screening technologies, such as mammogram, breast MRI and ultrasound, and the efficacy of risk-reducing breast and ovarian/fallopian tube surgical procedures. Guidelines exist in the NCCN (US) and ESMO guidelines in Europe, among others, trying to provide recommendations for the age at which to initiate screening or undergo risk-reducing salpingo-oophorectomies, for example. Data are increasing on the moderate penetrance genes but there is still much reliance on extrapolation from the high-penetrance genes, which should be done thoughtfully. One approach is to estimate the age at which lifetime breast cancer risk equals the risk from a high penetrance gene when screening is to begin and initiate imaging surveillance at that time. For example, initiation of annual breast imaging would be at age 40 for ATM (RR 2.8) instead of age 25 as is done for BRCA1/2 or age 20 as for TP53. However, there are no data that this is the correct age at which to initiate screening, so this practical suggestion must meet criteria for reasonableness as well as effectiveness. Other source of data may include more precise gene-specific risk estimates from focused genetic epidemiology studies, and ongoing data from studies of prospectively identified mutation carriers. Further understanding of the mechanisms of carcinogenicity for mutation carriers may also help to provide insights that can guide therapeutic and preventive approaches. For example, the work on RANK ligand by Lindeman et al has led to the development of a definitive breast cancer prevention trial examining the RANK-Ligand inhibitor Denosumab in BRCA1 mutation carriers, entitled BRCA-P, being led by C. Singer of the ABCSG and Dr. Lindeman, and to be conducted in sites around the world. Other approaches are in development and will be discussed. Citation Format: Garber JE. Managing increased breast cancer risk based on high and moderate penetrance gene mutations [abstract]. In: Proceedings of the 2017 San Antonio Breast Cancer Symposium; 2017 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2018;78(4 Suppl):Abstract nr ES2-3.

When to Consider Risk-Reducing Mastectomy in BRCA1/BRCA2 Mutation Carriers with Advanced Stage Ovarian Cancer: a Case Study Illustrating the Genetic Counseling Challenges

Germline mutations in BRCA1/BRCA2 significantly increase the risk of breast and ovarian cancer in women. This case report describes a BRCA1 germline mutation identified in a woman with stage IV epithelial ovarian cancer and the provision of genetic counseling about BRCA1-associated breast cancer risk in the three years following diagnosis. The report centers on the patient’s enquiry about risk-reducing breast surgery. We focus on the challenges for health professionals and patients in understanding and balancing the risks and benefits of major prophylactic surgery in the context of a potentially life-limiting cancer diagnosis. Breast cancer risk management in BRCA1/BRCA2 carriers with advanced ovarian cancer is an under-explored area of genetic counseling research. This article includes a case report, a review of the relevant literature and considers some implications for practice.

Combination Risk-Reducing Breast, Gynecologic and Reconstructive Surgery Among High-Risk Women: Does Surgical Order Impact Outcome?

Abstract Background: As the number of patients diagnosed with BRCA mutations increases, the number of risk-reducing procedures also increasing. Previous researchers have documented that it is safe to perform combination surgery, including risk-reducing mastectomies and salpingo-oophorectomies, under the same anesthesia. Objective: The aim of this study was to examine, retrospectively, surgical outcomes of women undergoing combination cancer–risk reducing breast, gynecologic, and breast-reconstruction surgery. Design: This was a retrospective cohort study. Materials and Methods: Two hospital databases were searched from January 2011, to March 2014. Charts of women undergoing risk-reducing breast-gynecologic surgery together with breast reconstruction were identified. All patients had the gynecologic portion of the surgery preceding the breast surgery. High-risk qualifiers for study inclusion were: BRCA mutation; personal history of breast or gynecologic cancer; or first-degree relative with breast or gynec...

Rehabilitating the sick role: the experiences of high-risk women who undergo risk reducing breast surgery

In recent years, Talcott Parsons’ work has come under renewed scrutiny by sociologists who argue that his concept of the sick role has a role to play in current accounts of health and illness. In this paper we describe the ways in which Australian women who had undergone elective risk-reducing breast surgery (with or without ovarian surgery) spoke about their convalescence. Women presented two contrasting recovery narratives in describing their experiences, with the negative effects of breast surgery either minimised or emphasised. In an effort to explain these differences, we draw upon the Parsonian concept of the sick role and argue that the extent to which women either embraced or rejected the sick role in their accounts was related to the amount of external legitimation they had received from healthcare professionals. We conclude that the concept of the sick role may provide useful insight into women's experiences of risk-management today.

The frequency and outcome of breast cancer risk-reducing surgery in finnish BRCA1 and BRCA2 mutation carriers

Risk-reducing mastectomy of BRCA1 and BRCA2 gene mutation carriers is known to significantly reduce lifetime risk of breast cancer. Our aim was to study the frequency and outcome of risk-reducing mastectomies performed in Helsinki University Central Hospital during 1997-2010. In testing for mutations in BRCA1 and BRCA2, 136 female carriers had been identified and followed up in Helsinki University Central Hospital. A total of 69 breasts in 52 women were operated on for risk-reduction, including 28 (54%) bilateral mastectomies at mean age of 43 years. Autologous tissue was used for reconstruction in 40 (50%) and implants in 31 (39%) of the breasts, respectively. In all, 8 patients (15%) chose to have no reconstruction. Minor or major complications were recorded in 21 (40%) patients. Five reconstructions failed and were corrected with re-reconstruction. In this series of Finnish BRCA1 and BRCA2 mutation carriers, a high percentage 52 (41%) chose risk-reducing breast surgery. Autologous tissue was favored in breast reconstructions. Immediate breast reconstructions were associated with a relatively high risk of complications in free flaps and in implant reconstructions, but not in latissimus dorsi reconstructions. It is mandatory that patients are informed about the risks associated with risk-reducing operations.

Challenges in the management of a patient with Cowden syndrome: case report and literature review

We would like to present a patient with a classical phenotype of a rare disorder - Cowden syndrome, its diagnostics and management challenges. A breast surgeon has to be aware of this rare condition when treating a patient with breast manifestations of Cowden syndrome and has to refer the patient to a clinical geneticist for further evaluation. Sequencing of the PTEN gene showed the Asp24Gly mutation. According to the latest literature data, the lifetime risk of breast cancer for Cowden syndrome patients is 81% and surgery is a justified option to reduce the risk of breast cancer. Bilateral risk-reducing mastectomy with immediate reconstruction was performed to eliminate further risk of breast cancer. 3 years after the risk-reducing breast surgery the patient is satisfied with the outcome. This is to our best knowledge the first reported Cowden syndrome case with follow-up data after risk-reducing measures have been taken.

Rehabilitating the sick role: post-surgical experiences of high risk women who undergo risk reducing mastectomy

Much has been written about the impact of risk-reducing breast and ovarian surgery on quality of life and high-risk women’s surgical decision-making, but much less is known about how this group experiences these elective procedures. In this paper we describe the ways in which women who have undergone risk-reducing breast surgery (+/- ovarian surgery) describe their surgical experiences. Data was collected during in-depth interviews with 21 Australian women from the kConFab Psychosocial study who had undergone risk-reducing mastectomy in the previous three years. Interview questions centred on decision-making, information needs, perceived costs and benefits of surgery, risk perception, pre-surgery expectations and knowledge, the surgery experience and convalescence, and overall satisfaction with surgical decision. When describing their experiences of surgery and convalescence women drew on two main narratives in which they described the immediate impact of surgery on convalescence and either embraced or vigorously rejected the sick role (Parsons, 1951). The extent to which women appeared to accept/reject the sick role appeared to be related to the amount of support/lack of support they received from families, friends and healthcare professionals. We conclude by arguing that the concept of the sick role can provide us with some insight into high-risk women’s’ experience of surgery and convalescence.

Risk-reducing surgery for breast and ovarian cancer risks - where are we now?

This talk will revisit some familiar issues about risk-reducing breast and ovarian surgery to manage cancer risks. I will focus upon the impact that surgery has on women’s lives and discuss their information needs. My talk will be illustrated with data collected during interviews with 40 Australian women as part of the kConFab Psychosocial study (Butow et al). Two emergent themes – looking different and feeling different - captured the psychosocial impact of surgery upon the interviewees. Many of the women said they felt differently about their bodies following RR surgery. All were relieved at having removed the risk of cancer that had previously been embodied in their breasts and ovaries, however reducing, risk by removing breasts and ovaries is not without costs. Interviewees reported experiencing a range of negative emotions and a series of unexpected bodily sensations following surgery and reflected upon positive and negative changes in their appearance. I will conclude that while women who undergo RR surgery are now informed about some of the sequelae, they are still not adequately prepared for the reality of undergoing this procedure. It will be suggested that, in addition to cosmetic outcomes, pre-surgical counselling needs to focus upon the experiential or sensational aspects of risk reducing surgery.

Looking different, feeling different: women’s reactions to risk-reducing breast and ovarian surgery

Most studies of quality of life following risk-reducing bilateral salpingo-oophorectomy (RRSO) and mastectomy (RRM) for inherited breast and ovarian cancer susceptibility were conducted before counseling protocols were established and included women at varying times since surgery. This study aimed to overcome these deficiencies and to provide current data on outcomes for this growing group of women. Semi-structured interviews were used to explore the experiences of an Australian cohort of 40 high-risk women 3 years after they underwent RRM and/or RRSO. Data were analyzed using the method of constant comparison. 19/40 women underwent RRSO, 8/40 RRM and 13/40 both procedures. Two themes-looking different and feeling different-captured the psychosocial impact of surgery upon interviewees. All regarded RR surgery as a positive experience and were relieved at having their risks of cancer substantially reduced; however, reducing risk by removing these body parts is not without costs. In addition to relief interviewees also reported experiencing a range of negative emotions and a range of unexpected bodily sensations following surgery and reflected upon both positive and negative changes in their appearance. Women said they had been unprepared for the lack of sensation in reconstructed breasts and/or the severity of menopausal symptoms, which often had a negative impact upon sexuality. At-risk women regard RR surgery as a positive way to manage cancer risk. However, although women who currently undergo RR surgery are informed about its sequelae, few are entirely prepared for the reality of undergoing this procedure. We recommend that women who undergo these procedures should be provided with information supported by psychosocial input before and after RR surgery.