Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients.

BACKGROUND/AIM: The use of multi-gene panels for germline testing in breast cancer enables the estimation of cancer risk and guides risk-reducing management options. The aim of this study was to present data that demonstrate the different levels of actionability for multi-gene panels used in genetic testing of breast cancer patients and their family members. MATERIALS AND METHODS: We performed an analysis in our clinical database to identify breast cancer patients undergoing genetic testing. We reviewed positive results in respect of risk estimation and management, cascade family testing, secondary findings and information for treatment decision-making. RESULTS: A total of 415 positive test reports were identified with 57.1%, 18.1%, 10.8% and 13.5% of individuals having pathogenic/likely pathogenic variants in high, moderate, low and with insufficient evidence for breast cancer risk genes, respectively. Six point seven percent of individuals were double heterozygotes. CONCLUSION: Germline findings in 92% of individuals are linked to evidence-based treatment information and risk estimates for predisposition to breast and/or other cancer types. The use of germline findings for treatment decision making expands the indication of genetic testing to include individuals that could benefit from targeted treatments.

Impact of pre-appointment contact and short message service alerts in reducing 'Did Not Attend' (DNA) rate on rapid access new patient breast clinics: a DGH perspective.

BACKGROUND: Failure to attend the clinic without prior intimation, known as "Did Not Attend" (DNA) is a significant global issue. There have been no published studies attempting to reduce DNA rates in breast clinics. We aimed to assess the impact of contacting patients prior to clinic attendance and Short Message Service (SMS) reminder on DNA rates in rapid access new patient breast clinics, evaluate 'Could Not Attend' (CNA) rate, and explore any correlation between age, sex, clinic days and sessions. METHODS: Initially, DNAs at the rapid access new patient breast clinic between 01/04/2018 and 31/03/2019 at a district general hospital in the North-West of England was assessed (Cycle 1). Changes were introduced in terms of contacting patients prior to offering appointments, followed by SMS reminders nearer the clinic dates. Subsequently, DNA was reassessed between 01/10/2019 and 31/03/2020 (Cycle 2). RESULTS: Following implementation of changes, DNA rate reduced from 8.2 to 4.1% (p < 0.00001). CNA rates were 0.9% (Cycle 1) and 1.1% (Cycle 2) [p = 0.36]. Evening clinics had the lowest DNA rates throughout. DNA patients in cycle 2 were significantly older than those in cycle 1 (p = 0.002). CONCLUSIONS: Contacting patients prior to clinic appointments and sending SMS reminders helped reduce DNA rates significantly in rapid access new patient breast clinics. Scheduling clinic sessions with least DNA rates, such as evening clinics, should be contemplated. One should be cautious of mobile phone technology that conveys SMS, which can potentially disadvantage the older age group. This model could be considered across the board to improve DNA rates.

Identification as a Mutation Carrier and Effects on Life According to Experiences of Finnish Male BRCA1/2 Mutation Carriers.

Earlier studies have explored post-identification experiences of male BRCA1/2 mutation carriers, but more detailed knowledge of both their experiences and effects of identification as a carrier on their lives is required to improve genetic counseling. Thus, the aim of this study was to acquire deeper and broader insights into their experiences. Qualitative data were collected from theme-based interviews with 31 men carrying BRCA1/2 mutations in Finland, and analyzed using inductive content analysis. Three categories of the participants' responses to identification as BRCA1/2 mutation carriers were identified (personal, offspring-related and related to other relatives), mainly concerning issues associated with cancer, hereditary transmission of their mutations, and life decisions. Although there were many neutral responses regarding the issues, there were also strong emotional reactions and cancer worries. Identification as a carrier also had several effects on participants' lifestyles, including adoption of healthier and disease-preventing behavior, and social well-being, such as family planning and attitudes to life. The results provide detailed information about several aspects of male BRCA1/2 mutation carriers' experiences, which could be used to develop a tentative model of tailored genetic counseling for them.

Ações promotoras de saúde frente ao câncer da mama masculina: subsídios ao gerenciamento do cuidado de enfermagem na atenção básica / Health promotion actions against male breast cancer: subsidies to the management of Nursing care in Primary Care

O presente estudo avaliou as estratégias de enfermagem para práticas promotoras de saúde a homens frente ao câncer da mama masculina na atenção básica, mesmo considerado raro, o câncer da mama masculina merece maior atenção por parte dos profissionais de saúde e órgãos governamentais responsáveis pela elaboração das políticas públicas delineadoras dos modelos de atenção, pois o mesmo apresenta repercussões emocionais, sociais e físicas decorrentes do adoecimento e do tratamento para os usuários e a família, na dependência da fase em que for diagnosticado. Trata-se uma pesquisa de campo com abordagem metodológica da Pesquisa Convergente Assistencial (PCA), que possibilita a integração de métodos de pesquisa científica à prática assistencial, onde foi realizada uma entrevista individual com um homem com câncer de mama gerando um caso mobilizador que foi apresentado as 12 enfermeiras da Estratégia Saúde da Família (ESF) de Saquarema após as mesmas responderem um questionário sobre o seu entendimento a cerca do câncer da mama em homens. Desta forma as enfermeiras da baixada litorânea pontuaram as possíveis ações/ estratégias que poderiam desenvolver, a fim de favorecer a criação de um plano de promoção da saúde para homens frente ao câncer da mama masculina, destacados como: Capacitação e Conscientização dos profissionais sobre o tema, Elaboração de cartazes, panfletos e palestras sobre o câncer de mama masculino para os usuários da rede, Utilização das mulheres como multiplicadoras de informação e a Informação ao público masculino além dos muros da instituição e estratégia de captação do público masculino. Sendo essas, estratégias que podem ser implementadas na atenção básica a fim de informar e conscientizar os usuários da rede.(AU)

Câncer de mama masculino: vivência de enfermeiros e usuários à luz da Política Nacional de Atenção Integral à Saúde do Homem / Male breast cancer: experiences of nurses and users in the light of the National Comprehensive Care Policy for Men's Health

O objetivo desta pesquisa é analisar a vivência de enfermeiros e usuários acerca do câncer de mama masculino, à luz da Política Nacional da Atenção Integral à Saúde do Homem. Trata-se de uma pesquisa exploratório -descritiva, desenvolvida em uma Unidade Básica de Saúde, na cidade de João Pessoa/PB. A falta de informação associada a carência em divulgação e a não realização do autoexame das mamas em homens tendem aumentar a sua mortalidade. Concluímos que é necessário qualificar a atenção primária garantindo, assim, a promoção da saúde e a prevenção aos agravos evitáveis a esta população.

The objective of this research is to analyze the experience of nurses and users about male breast cancer, in the light of the National Integral Attention to Men's Health Policy. It is an exploratory and descriptive research, developed in a Basic Health Unit in the city of João Pessoa I PB. The lack of disclosure associated with lack of information and not to perform the self- examination of breasts in men tend to increase their mortality. We conclude that it is necessary to qualify the primary care thus ensuring health promotion and prevention to preventable diseases in this population.

El objetivo de esta investigación es analizar la experiencia de las enfermeras y de los usuarios sobre el cáncer de mama masculino, a la luz de Atención Integral Nacional para Hombres de Políticas de Salud. Se trata de una investigación exploratoria y descriptiva, desarrollado en una Unidad Básica de Salud en la ciudad de João Pessoa/ PB. La falta de divulgación asociada con la falta de información y no para realizar el autoexamen de los senos en los hombres tienden a aumentar su mortalidad. Llegamos a la conclusión de que es necesario para calificar la atención primaria asegurando así la promoción de salud y prevención de enfermedades prevenibles en esta población.

Practical aspects of genetic counseling in breast cancer: lights and shadows.

In unselected populations, less than 10% of breast cancers are associated with germline mutations in predisposing genes. Breast cancer type 1 and 2 (BRCA1 and BRCA2) susceptibility genes are the most common involved genes and confer a 10-30 times higher risk of developing the disease compared to the general population. A personal or family history suggestive of inherited breast cancer syndrome may be further evaluated to assess the risk of genetic predisposition and the presence of a genetic mutation. Breast cancer genetic counseling should include a careful risk assessment with associated psychosocial evaluation and support, possible molecular testing, personalized discussion of results. Knowledge of BRCA status can influence individualized cancer risk-reduction strategies. i.e. active surveillance, prophylactic surgery and/or pharmacoprevention.

Perceptions and opinions about male breast cancer and male breast self-examination: a qualitative study.

OBJECTIVE: While the relatively common nature of female breast cancer has resulted in a high level of general awareness, male breast cancer is still comparatively unknown to the general public and to healthcare professionals. The objective of this study is to explore the perceptions and opinions about male breast cancer and male breast self-examination among male university students. METHODOLOGY: In-depth interviews were conducted among 36 male university students from the Management and Science University, Malaysia, selected by simple random sampling. The themes of the interview were: knowledge of male breast cancer and male breast self-examination, sources of knowledge and attitudes towards male BSE. The data obtained were classified into various categories and analyzed manually. RESULTS: The majority of participants mentioned that there is a low possibility for males to get breast cancer. They also believed that the cause of breast cancer among men is due to the carcinogens from cigarettes. The majority of participants mentioned that they know about breast self-examination from the mass media and that the presence of a lump in the breast is the main symptom of breast cancer in men. The majority of participants mentioned that they encourage their family members to practice breast self-examination but considered that BSE is not important for men because they have a low probability of getting breast cancer. CONCLUSIONS: Misconceptions regarding male breast cancer and breast self-examination among men still exist among male university students. Therefore special attention should be given to educate men about male breast cancer and male BSE.

The impact of post-mastectomy radiation therapy on male breast cancer patients--a case series.

OBJECTIVE: To assess the impact of radiation management on male breast cancer (MBC) at London Regional Cancer Program (LRCP). METHODS AND MATERIALS: Men with a diagnosis of breast cancer referred to LRCP were reviewed. The seventh American Joint Committee on Cancer staging system was used. Patients treated with and without post-mastectomy radiation therapy (PMRT) were analyzed. Disease-free survival (DFS) was defined as time duration from diagnosis to first recurrence. Overall survival (OS) was defined as time duration from pathologic diagnosis to death or last follow-up with any death defined as an event. Survival estimates were obtained using Kaplan-Meier methodology. RESULTS: From January 1977 to December 2006, 81 men had invasive ductal carcinoma. The median age was 65 (range, 35-87 years). There were 15 Stage I, 40 Stage II, 20 Stage III, and 6 Stage IV patients. Median follow-up time was 46 months (range, 1-225 months). Of the 75 patients treated with curative intent, 29 did not receive PMRT and 46 completed PMRT. Patients who received PMRT demonstrated no benefit in overall survival (p = 0.872) but significantly better local recurrence free survival (p < 0.001) compared with those who did not receive RT. There was trend toward improving locoregional recurrence with PMRT in patients with high-risk features (node-positive, advanced stage, and ≤ 2 mm or unknown surgical margin). The median, 5-year, and 10-year disease-free survival and overall survival for the 75 patients were 77.7 months, 66.3%, 32.7%, and 91.2 months, 73.9%, and 36.6%, respectively. CONCLUSION: The experience at LRCP suggests that high-risk MBC patients should consider PMRT to improve their chance of local recurrence-free survival.

Is prophylactic breast radiotherapy necessary in all patients with prostate cancer and gynecomastia and/or breast pain?

PURPOSE: We investigated the efficacy of prophylactic radiotherapy for gynecomastia/breast pain induced by 150 mg bicalutamide in a prospective, randomized, multi-institutional trial. MATERIALS AND METHODS: After definitive treatment for localized prostate cancer 125 patients were randomized to 12 Gy radiotherapy before bicalutamide as prophylactic radiotherapy (53) or bicalutamide only for nonprophylactic radiotherapy (72). The incidence of gynecomastia, breast pain and tenderness, and discomfort perceived by the patients was assessed by physical examination and direct questioning at 3, 6 and 12 months of followup. RESULTS: At the end of 12 months the gynecomastia rate was 15.8% in the prophylactic group and 50.8% in the nonprophylactic group (p <0.001). On patient evaluation the breast enlargement rate was 34.4%. The severity of breast pain and tenderness was not different between the groups. The breast pain rate was 36.4% and 49.2% by 12 months in the prophylactic and nonprophylactic groups, and the rate of patients who felt discomfort from gynecomastia was 11.4% and 29.5%, respectively. CONCLUSIONS: In this prospective study the incidence of gynecomastia was not as high as previously believed. Although prophylactic breast irradiation seemed to decrease the gynecomastia rate in patients on 150 mg bicalutamide, our study proves that not all patients need prophylaxis since only 52% were significantly bothered by gynecomastia. Thus, individual assessment is needed to select patients who need prophylactic radiation while on 150 mg bicalutamide.

Novel one-stop multidisciplinary follow-up clinic significantly improves cancer risk management in BRCA1/2 carriers.

The purpose of this study is to measure the impact of a multidisciplinary one-stop follow-up clinic (MDOSC) on breast and ovarian surveillance, risk reducing surgery and enrolment in clinical trials in BRCA1/2 carriers. All BRCA1/2 carriers in our region were invited and chose which specialists to see in our MDOSC offering best practice using clinical protocols based on national guidelines and published data. Uptake was evaluated over 24 months recording numbers of individuals undergoing breast and ovarian surveillance, risk reducing surgery, newly diagnosed cancers, their method of detection and participation in clinical trials. 172 (60%) of invited BRCA1/2 carriers chose to attend the MDOSC. Breast surveillance was initiated in 88% and screening frequency altered in 14% of women to comply with national guidelines. Risk reducing salpingo-oophorectomy was chosen by 47% of women and an additional 39% were considering it. The rate of failure to remove fallopian tubes fell from 15 to 3% of procedures (P < 0.01) and peritoneal washings and serial sectioning of tubes and ovaries rose from 25% and 14% before, to 67% (P < 0.001) and 63% (P < 0.001) procedures, respectively, after initiation of our MDOSC. 24% of women considered and 18% decided to undergo risk reducing mastectomy during the follow-up period. Participation in clinical trials increased significantly from 51 to 229 enrolments (P < 0.001). Our novel MDOSC designed to devise an individually tailored cancer risk management strategy had a high uptake amongst our BRCA1/2 carriers. Attendance resulted in improved breast and ovarian cancer risk management.

Choice of management of southern Chinese BRCA mutation carriers.

BACKGROUND: Mutations in the BRCA genes confer greater risk of developing breast, ovarian, and prostate cancer. Families carrying the mutation can have intensive surveillance and take preventative measures. This is the first report on the uptake of such interventions in Chinese mutation carriers residing in Asia. METHODS: Breast and ovarian cancer index patients and family members referred for genetic counselling and testing who are found to carry the BRCA mutations were included in this multicenter study. RESULTS: A total of 31 patients with breast and/or ovarian cancer were found to carry BRCA1 or BRCA2 mutations. Forty-one tested family members also carried the mutations. Of the females, 85.7% of the index patients opted for breast surveillance and 23.8% for prophylactic mastectomy. Of the family members, 82.4% chose breast surveillance and 17.7% had prophylactic mastectomy. The majority of index patients and family members preferred ovarian surveillance (84 and 82.4%). Amongst the index patients, 32% decided for prophylactic salpingo-oophorectomy; 17.6% of the family members who did not have history of ovarian cancer decided to have prophylactic salpingo-oophorectomy. All male index patients agreed to breast and prostate surveillance, including breast clinical examination and PSA monitoring. For those male family members found to be BRCA mutation carriers, 56.3% agreed to have breast surveillance and 66.7% agreed to have prostate surveillance. No index patient or family member agreed to any form of chemoprevention. CONCLUSIONS: Chinese BRCA mutation carriers have a higher uptake of cancer surveillance than prophylactic surgery and have a lack of interest in the use of chemoprevention drugs.

Helene Hudson Memorial Lectureship CANO 2008.

One in nine women will develop breast cancer in her lifetime (Canadian Cancer Society, 2007). Hereditary breast cancer accounts for only five to 10 per cent of all breast cancers. However, women carrying a single high-penetrance gene mutation have a 40% to 80% chance of developing breast cancer (Fackenthal & Olopade, 2007). Most of these breast cancers occur in women under the age of 50. The BRCA 1 gene mutation was first reported in 1994, and the BRCA 2 gene mutation in 1995. The BRCA 2 gene mutation is often carried in males, and accounts for approximately six per cent of male breast cancer. Women with this gene mutation have a lifetime risk of developing breast cancer of between 50% and 85%, a second breast cancer of between 30% and 50%, and ovarian cancer between 10% and 20%. Each parent with the BRCA 2 gene mutation has a 50% chance of passing this gene mutation to their children (National Cancer Institute, 2006). The emotional impact of receiving cancer risk information such as this is difficult to predict. When presented with information about risk-reduction surgery, chemoprevention, risk avoidance and increased screening, how does one make decisions? Walk with me, as I share how my family discovered we carry the Icelandic founder gene mutation, the steps we took together during the testing process, and the decision-making by the family members who tested positive. We'll focus on my sister Rita--ordinary days, an extraordinary woman.

Large genomic BRCA2 rearrangements and male breast cancer.

BACKGROUND: Germ-line mutations of the BRCA2 gene are the highest known risk factors for male breast cancer (MBC). Mutations in BRCA2 are mainly point mutations in contrast to BRCA1 in which large genomic rearrangements are quite common. In recent literature, however, genomic alterations of BRCA2 have been linked especially to male breast cancer families. We wanted to screen large genomic deletions and duplications of BRCA2 among Finnish male breast cancer patients. METHODS: We used multiplex ligation-dependent probe amplification (MLPA) to detect large genomic rearrangements in the BRCA2 gene among 36 unselected Finnish male breast cancer patients previously tested and found negative for Finnish BRCA1 and BRCA2 founder mutations. RESULTS: No genomic mutations of BRCA2 nor CHEK2*1100delC point mutations, also included in the assay, were found in this study. CONCLUSION: Large genomic BRCA2 rearrangements were not found among our 36 Finnish male breast cancer patients. Screening of large BRCA2 rearrangements is not likely to be advantageous in Finland.

Innovation in care and research: meeting highlights from the seventh Milan Breast Cancer Conference (Milan, 15-17 June, 2005).

The Seventh Milan Breast Cancer Conference (MBCC), Innovation in Care and Research, held in Milan, Italy from 15 to 17 June 2005 was attended by more of 1100 physicians from 62 countries. This meeting report summarizes the highlights of the 12 sessions.

[Occupational risk factors and male breast cancer]. / Czynniki ryzyka zwiqzane z praca zawodowa a rak sutka u mezczyzn.

Male breast cancer is rare compared to its female counterpart and makes less than 1% of all breast cancer. Its etiology is less known than that of female breast cancer. Numerous experimental and clinical studies indicate the possibility of an increased risk of male breast cancer in workers occupationally exposed to electromagnetic field, light at night, and high temperature. There are also studies, which reveal the increased risk of this disease induced by occupational exposure to pesticides, aromatic hydrocarbons and ionizing radiation. However, irrefutable epidemiologic data from prospective clinical trials have not yet been obtained.

Male breast cancer.

Although male breast cancer (MBC) is rare (<1% of all BC), its reported incidence has been rising. In addition to traditional risk factors, there is now known to be a 7% life-time risk in carriers of BRCA2. This article discusses the clinical and histological presentation of MBC and reviews the main treatments.