There is no international consensus up to which age women with a diagnosis of triple-negative breast cancer (TNBC) and no family history of breast or ovarian cancer should be offered genetic testing for germline BRCA1 and BRCA2 (gBRCA) mutations. Here, we explored the association of age at TNBC diagnosis with the prevalence of pathogenic gBRCA mutations in this patient group. The study comprised 802 women (median age 40 years, range 19–76) with oestrogen receptor, progesterone receptor, and human epidermal growth factor receptor type 2 negative breast cancers, who had no relatives with breast or ovarian cancer. All women were tested for pathogenic gBRCA mutations. Logistic regression analysis was used to explore the association between age at TNBC diagnosis and the presence of a pathogenic gBRCA mutation. A total of 127 women with TNBC (15.8%) were gBRCA mutation carriers (BRCA1: n = 118, 14.7%; BRCA2: n = 9, 1.1%). The mutation prevalence was 32.9% in the age group 20–29 years compared to 6.9% in the age group 60–69 years. Logistic regression analysis revealed a significant increase of mutation frequency with decreasing age at diagnosis (odds ratio 1.87 per 10 year decrease, 95%CI 1.50–2.32, p < 0.001). gBRCA mutation risk was predicted to be > 10% for women diagnosed below approximately 50 years. Based on the general understanding that a heterozygous mutation probability of 10% or greater justifies gBRCA mutation screening, women with TNBC diagnosed before the age of 50 years and no familial history of breast and ovarian cancer should be tested for gBRCA mutations. In Germany, this would concern approximately 880 women with newly diagnosed TNBC per year, of whom approximately 150 are expected to be identified as carriers of a pathogenic gBRCA mutation.

Journal of Medical Internet Research - International Scientific Journal for Medical Research, Information and Communication on the Internet #Preprint #PeerReviewMe: Warning: This is a unreviewed preprint. Readers are warned that the document has not been peer-reviewed by expert/patient reviewers or an academic editor, may contain misleading claims, and is likely to undergo changes before final publication, if accepted, or may have been rejected/withdrawn. Readers with interest and expertise are encouraged to sign up as peer-reviewer, if the paper is within an open peer-review period. Please cite this preprint only for review purposes or for grant applications and CVs (if you are the author). Background: Collecting patient reported outcome (PRO) data in a systematic way enables an objective evaluation of treatment and its related outcomes. By using the disease specific questionnaires developed by the International Consortium of Health Outcome Measurement (ICHOM) this allows for comparison between physicians, hospitals and even different countries. Objective: The aim of this pilot project was to establish a digital system to measure patient reported outcomes for new breast cancer patients who attended the Charité Breast cancer clinic. This approach should serve as a blueprint to further expand the PRO measurement to other disease entities and departments. Methods: In November 2016 we implemented a web-based system to collect PRO data at the breast center at Charité University hospital using the ICHOM data set. All new patients at the breast center were enrolled and were answering a predefined set of questions using a tablet computer. Once they start their treatment at Charité automated emails were sent to the patient at predefined treatment points. Those emails contained a web-based link through which they could access and answer questionnaires. Results: By now 541 patients have been enrolled and 2470 questionnaires initiated. 9.44% of the patients were under the age of 40, 49.7% between 40 and 60, 39.6% between 60-80 and 1.3% over the age of 80. The average return rate of questionnaires was 67%. When asked about preference regarding paper versus online questionnaires 6% of the patients between 50 to 60 , 6% between 60-70 and 13 % over 70 would prefer paper versions. Conclusions: Measuring PRO in breast cancer patients in an automated electronic version is possible across all age ranges while simultaneously achieving a high return rate.

Background: While a regular menstrual cycle is an indicator of good health, menstrual dysfunction (MD) and wrong beliefs regarding hormonal contraceptives (HC) are quite common among elite female athletes and threaten their health. This study aimed to (1) identify the prevalence of current and lifetime MD in various sports disciplines, (2) investigate variables that are associated with the prevalence of MD, (3) study the current practice of HC use among elite German female athletes. Methods: 584 German elite female athletes (mean 20.7 ± 4.9 years) from 64 different sports completed an online questionnaire to assess gynecological health characteristics, history of MD, and the use of HC. Results: Sixty-nine percent of athletes not using HC reported a regular menstrual cycle, while oligomenorrhea was currently reported in 13%, secondary amenorrhea in 8%, primary amenorrhea in 2% and polymenorrhea in 8%. The current prevalence of primary amenorrhea differed between sports disciplines (p = 0.002), while oligomenorrhea (p = 0.828) and secondary amenorrhea (p = 0.848) did not. The lifetime prevalence of primary amenorrhea (10%) and oligomenorrhea (74%) differed significantly between sports disciplines (p < 0.001 and p = 0.001), while secondary amenorrhea (40%) did not (p = 0.298). The current and lifetime prevalence of primary amenorrhea was higher in aesthetic sports disciplines, while the lifetime prevalence of oligomenorrhea was higher in endurance disciplines. Factors associated with lower prevalences of MD were menstrual cycle tracking (p < 0.001), higher gynecological age (p < 0.001), regular gynecological health screenings (p = 0.008), and a diagnosed eating disorder (p = 0.037). Twenty-nine percent of these elite athletes used HC, of whom 15% claimed to use HC as a treatment for MD. Conclusion: Elite female athletes from a variety of sports disciplines, not just from endurance and aesthetic sports, are at high risk of developing MD. Given the high percentage of athletes using HC to treat MD, educating athletes, coaches, others from the support team and parents about the risk and prevention of MD and the effects of HC in the context of elite sports may improve gynecological health among elite athletes.

Little is known about how women with a BRCA1/2 mutation develop an individual understanding of their breast and ovarian cancer risk and how this affects their psychological distress. In this study, we investigated associations between illness representations, coping strategies and psychological distress. N = 101 BRCA1/2 mutation carriers answered self-report questionnaires on illness representations, coping strategies, cancer worry and depressive symptoms. Women without cancer were compared to women with a previous cancer diagnosis. Illness representations explained 50% and 45% of the variability in cancer worry and depressive symptoms, respectively. Woman perceiving severe consequences (β = 0.29, p < 0.01) and having more concerns (β = 0.37, p < 0.01) were found to report more cancer worry. Perceiving information about the mutation as less coherent (β = −0.17, p < 0.05) and experiencing negative emotional responses (β = 0.60, p < 0.01) were both associated with more depressive symptoms. Women with a previous cancer diagnosis show patterns of illness representations that are potentially more distressing than women without a cancer diagnosis. Findings suggest that physicians involved in counseling should pay attention to illness representations of distressed women. Thereby, it would be possible to detect maladaptive thoughts associated with the mutation, address negative emotions and encourage adaptive coping strategies.