Management of Male Patients With Occult Breast Cancer: Analysis of the National Cancer Database.

INTRODUCTION: Occult breast cancer (OBC) consists of <0.1% of breast cancer cases in the United States. Male occult breast cancer (mOBC) has not been well-studied outside of case reports, and management is largely based on female OBC (fOBC) studies. We aim to examine the prevalence of mOBC among those in the National Cancer Database with breast cancer and describe treatment modalities received by mOBC compared to fOBC. METHODS: The National Cancer Database was queried for patients with OBC from 2004 to 2018. Chi-Square test and Fisher's exact tests compared patient, clinical, and facility characteristics by sex. Treatment modalities [systemic therapy, radiation therapy, axillary lymph node dissection, modified radical mastectomy (MRM)] were compared. A subgroup analysis examined pathologic upstaging in patients who underwent MRM. RESULTS: Of 23,374 male patients with breast cancer, 0.13% were identified to have mOBC [versus 0.09% in fOBC]. cN2/N3 disease was significantly more prevalent in the mOBC cohort (61.3%) than in the fOBC cohort (30.7%, P < 0.001). Receipt of axillary lymph node dissection or MRM was not significantly different by sex. Male OBC (mOBC) patients were less likely to receive trimodality treatment than fOBC patients. In patients who underwent MRM, more mOBC patients [75%] were pathologically upstaged as T+ after mastectomy than fOBC patients [30%, P < 0.001], questioning the adequacy of diagnostic workup for mOBC compared to fOBC. CONCLUSIONS: This review confirms mOBC as an extremely rare disease. Multimodal treatments have been highly utilized to optimize care in this patient population. Further investigation is warranted to examine the survival benefit of treatment regimens for mOBC.

Breast cancer mortality in Chinese women and men from 1990 to 2019: Analysis of trends in risk factors.

OBJECTIVE: This study aimed to examine the relative risk of risk factor in male and female breast cancer (BC) deaths in China and analyzed the changing trends in BC mortality rates from 1990 to 2019. METHODS: Open data from the Global Burden of Disease database from 1990 to 2019 were analyzed to assess the number of BC deaths and age-standardized mortality rates (ASMR) in China. The age-period-cohort model was employed to study age effects, period effects, cohort effects, as well as local drift and net drift of the data, determining the impact of changing risk factors on crude mortality rates and ASMR of BC. RESULTS: In 2019, the number of BC deaths across all age groups in China increased by 130.38% compared to 1990, with an increase of 125.68% in females and 648.80% in males. The ASMR for BC and male BC increased in 2019, while female BC ASMR declined. Overall, alcohol consumption and smoking as risk factors contributed to increased mortality rates of BC with advancing age. Over the entire study period, the net drift of alcohol consumption in females for BC was 0.06% (95% confidence interval [CI]: -0.24% to 0.36%), while for smoking it was -0.64% (95% CI: -0.83% to -0.45%). For males, the net drift of alcohol consumption for BC was 6.75% (95% CI: 5.55% to 7.96%), and for smoking, it was 6.09% (95% CI: 2.66% to 9.64%). CONCLUSION: Hence, improving awareness of BC-related risk factors and implementing prevention strategies are necessary to alleviate future BC burdens.

The characteristics and risk factors of breast cancer patients trend distinctive regional differences: a cross-sectional study.

OBJECTIVE: To determine the characteristics and risk factors of breast cancer patients in a tertiary care setting. METHODS: The retrospective, cross-sectional study was conducted at the Sindh Institute of Urology and Transplantation, Karachi, and comprised data of all patients diagnosed with breast cancer from March 2017 to December 2021. Demographic characteristics, clinical presentation, stage of the disease and histopathological characteristics were noted. Data related to all the variables was not available in all cases. Data was analysed using SPSS 23. RESULTS: Of the 690 patients, 683(99%) were females and 7(1%) were males. The mean age at presentation was 49.3±13.5 years, while the mean duration of symptoms was 10.24±17.64) months. Most of the females were married 642(93%) and multiparous 484(70.9%), while 293(42.5%) had breastfed their children for >1 year, and 412(59.7%) had no history of contraception use. The most common stage at presentation was stage II (48.6%), and most patients had grade II 395(57.2%) invasive ductal carcinoma, with Luminal A molecular subtype noted in 287(41.6%) cases. CONCLUSIONS: The characteristics of breast cancer in the sample had certain distinctions compared to other populations. It is important to integrate all datasets and develop guidelines appropriate to Pakistani population.

[Male breast cancer: a lesser-known battle]. / Cancer du sein chez l'homme : un combat méconnu.

Breast cancer in men is a rare and understudied disease. Until recently, prospective studies and clinical trials on breast cancer treatments often excluded men. Treatment recommendations were generally extrapolated from the results of clinical trials that included only women. Significant efforts have been made to better understand the biological characteristics, the most effective treatments, and the outcomes of breast cancer in men, as well as to identify clinically relevant differences of this disease. This article reviews the current data on the epidemiology, pathological and clinical characteristics, as well as the treatment of breast cancer in men.

Le cancer du sein chez l'homme est une maladie rare et peu étudiée. Jusqu'à récemment, les études prospectives et les essais cliniques sur les traitements du cancer du sein excluaient souvent les hommes. Les recommandations de traitement étaient généralement extrapolées à partir des résultats d'essais cliniques incluant uniquement des femmes. Des efforts significatifs ont été déployés pour mieux comprendre les caractéristiques biologiques, les traitements les plus efficaces et les résultats du cancer du sein chez les hommes, ainsi que pour identifier les différences cliniquement pertinentes de cette maladie. Cet article passe en revue les données actuelles sur l'épidémiologie, les caractéristiques pathologiques et cliniques, ainsi que le traitement du cancer du sein chez l'homme.

National and subnational burden of female and male breast cancer and risk factors in Iran from 1990 to 2019: results from the Global Burden of Disease study 2019.

BACKGROUND: Breast cancer (BC) is one of the most burdensome cancers worldwide. Despite advancements in diagnostic and treatment modalities, developing countries are still dealing with increasing burdens and existing disparities. This study provides estimates of BC burden and associated risk factors in Iran at the national and subnational levels over 30 years (1990-2019). METHODS: Data on BC burden for Iran were retrieved from the Global Burden of Disease (GBD) study from 1990 to 2019. GBD estimation methods were applied to explore BC incidence, prevalence, deaths, disability-adjusted life years (DALYs), and attributable burden to risk factors based on the GBD risk factors hierarchy. Moreover, decomposition analysis was performed to find the contribution of population growth, aging, and cause-specific incidence in the total incidence change. Age-standardized rates (per 100,000 population) and 95% uncertainty intervals (UI) were reported based on sex, age, and socio-demographic index (SDI). RESULTS: Age-standardized incidence rate (ASIR) increased from 18.8 (95% UI 15.3-24.1)/100,000 in 2019 to 34.0 (30.7-37.9)/100,000 in 2019 among females and from 0.2/100,000 (0.2-0.3) to 0.3/100,000 (0.3-0.4) among males. Age-standardized deaths rate (ASDR) increased slightly among females from 10.3 (8.2-13.6)/100,000 in 1990 to 11.9 (10.8-13.1)/100,000 in 2019 and remained almost the same among males-0.2/100,000 (0.1-0.2). Age-standardized DALYs rate also increased from 320.2 (265.4-405.4) to 368.7 (336.7-404.3) among females but decreased slightly in males from 4.5 (3.5-5.8) to 4.0 (3.5-4.5). Of the 417.6% increase in total incident cases from 1990-2019, 240.7% was related to cause-specific incidence. In both genders, the BC burden increased by age, including age groups under 50 before routine screening programs, and by SDI levels; the high and high-middle SDI regions had the highest BC burden in Iran. Based on the GBD risk factors hierarchy, high fasting plasma glucose (FPG) and alcohol were estimated to have the most and the least attributed DALYs for BC among females, respectively. CONCLUSIONS: BC burden increased from 1990 to 2019 in both genders, and considerable discrepancies were found among different provinces and SDI quintiles in Iran. These increasing trends appeared to be associated with social and economic developments and changes in demographic factors. Improvements in registry systems and diagnostic capacities were also probably responsible for these growing trends. Raising general awareness and improving screening programs, early detection measures, and equitable access to healthcare systems might be the initial steps to tackle the increasing trends.

Molecular characteristics of Asian male BRCA-related cancers.

PURPOSE: Germline mutations of BRCA1 or BRCA2 predispose men to develop various cancers, including breast cancers and prostate cancers. Male breast cancer (MBC) is a rare disease while prostate cancer (PRC) is uncommon in young men at the age of less than 40. The prevalence of BRCA genes in Asian male patients has to be elevated. METHODS: Germline mutations screening was performed in 98 high-risk Chinese MBC and PRC patients. RESULT: We have identified 16 pathogenic BRCA2 mutation carriers, 12 were MBC patients, 2 were PRC patients and 2 were patients with both MBC and PRC. The mutation percentages were 18.8%, 6.7% and 50% for MBC, PRC and both MBC and PRC patients, respectively. BRCA2 gene mutations confer a significantly higher risk of breast/prostate cancers in men than those with BRCA1 mutations. BRCA mutated MBC patients had a younger age of diagnosis and strong family histories of breast cancers while BRCA mutated PRC patients had strong family histories of ovarian cancers. CONCLUSION: Male BRCA carriers with breast cancers or prostate cancers showed distinct clinical and molecular characteristics, a male-specific genetic screening model would be useful to identify male cancer patients who have a high risk of BRCA mutation.

Treatments for breast cancer in men: late effects and impact on quality of life.

PURPOSE: Male breast cancer accounts for approximately 1% of all breast cancer diagnoses. Unfortunately, a lack of information exists regarding late effects of breast cancer treatment in men. METHODS: An online survey directed towards male breast cancer patients was distributed via social medial and emails from June to July 2022. Participants were asked about their disease characteristics, treatments and side effects from the disease or treatment. Patients and treatment variables were reported via descriptive statistics. Univariate logistic regression was performed to evaluate associations between different treatment variables and outcomes expressed by odds ratio. RESULTS: A total of 127 responses were analyzed. Median age of the participants was 64 years (range 56-71 years). A total of 91 participants (71.7%) revealed they experienced late effects secondary to their cancer or cancer treatment. The most concerning physical and psychological symptoms reported were fatigue and fear of recurrence respectively. Axillary lymph node dissection was associated with swollen arm and with difficulty in arm or shoulder movement. Systemic chemotherapy was related to bothersome hair loss and changes on interest in sex; and endocrine therapy was associated with feeling less masculine. CONCLUSION: Our study showed that men suffer several late effects from treatments for breast cancer. Lymphedema, difficulty with arm and shoulder movement, sexual dysfunction and hair loss should be discussed with males as it can be distressing for some patients and decrease their quality of life.

Infertility and risk of breast cancer in men: a national case-control study in England and Wales.

PURPOSE: Breast cancer is uncommon in men and its aetiology is largely unknown, reflecting the limited size of studies thus far conducted. In general, number of children fathered has been found a risk factor inconsistently, and infertility not. We therefore investigated in a case-control study, the relation of risk of breast cancer in men to infertility and number of children. PATIENTS AND METHODS: We conducted a national case-control study in England and Wales, interviewing 1998 cases incident 2005-17 and 1597 male controls, which included questions on infertility and offspring. RESULTS: Risk of breast cancer was statistically significantly associated with male-origin infertility (OR = 2.03 (95% confidence interval (CI) 1.18-3.49)) but not if a couple's infertility had been diagnosed as of origin from the female partner (OR = 0.86 (0.51-1.45)). Risk was statistically significantly raised for men who had not fathered any children (OR = 1.50 (95% CI 1.21-1.86)) compared with men who were fathers. These associations were statistically significantly present for invasive tumours but not statistically significant for in situ tumours. CONCLUSION: Our data give strong evidence that risk of breast cancer is increased for men who are infertile. The reason is not clear and needs investigation.

Risk of developing a second primary cancer in male breast cancer survivors: a systematic review and meta-analysis.

BACKGROUND: With increasing survival after cancer diagnoses, second primary cancers (SPCs) are becoming more prevalent. We investigated the incidence and site of non-breast SPC risks following male breast cancer (BC). METHODS: PubMed, Embase and Web of Science were systematically searched for studies reporting standardised incidence ratios (SIRs) for SPCs published by March 2022. Meta-analyses used the generic inverse-variance method, assuming a random-effects model. We evaluated SIRs for overall SPCs, site-specific risks, by age at BC onset, time since BC onset and geographic region. We assessed study quality using routine techniques. RESULTS: Eight population-based retrospective cohort studies were identified. SIRs ranged from 1.05 to 2.17. The summary SIR estimate was 1.27 (95% CI: 1.03-1.56, I2: 86%), and there were increased colorectal (SIR: 1.29, 95% CI: 1.03-1.61), pancreatic (SIR: 1.64, 95% CI: 1.05-2.55) and thyroid (SIR: 5.58, 95% CI: 1.04-30.05) SPC risks. When an outlying study was excluded, the summary SIR for men diagnosed with BC before age 50 was 1.50 (95% CI: 1.21-1.85), significantly higher than men diagnosed at older ages (SIR: 1.14, 95% CI: 0.98-1.33). CONCLUSIONS: Male BC survivors are at elevated risks of developing second primary colorectal, pancreatic and thyroid cancers. The estimates may assist their clinical management and guide decisions on genetic testing.

Penetrance of male breast cancer susceptibility genes: a systematic review.

PURPOSE: Several male breast cancer (MBC) susceptibility genes have been identified, but the MBC risk for individuals with a pathogenic variant in each of these genes (i.e., penetrance) remains unclear. We conducted a systematic review of studies reporting the penetrance of MBC susceptibility genes to better summarize current estimates of penetrance. METHODS: A search query was developed to identify MBC-related papers indexed in PubMed/MEDLINE. A validated natural language processing method was applied to identify papers reporting penetrance estimates. These penetrance studies' bibliographies were reviewed to ensure comprehensiveness. We accessed the potential ascertainment bias for each enrolled study. RESULTS: Fifteen penetrance studies were identified from 12,182 abstracts, covering five purported MBC susceptibility genes: ATM, BRCA1, BRCA2, CHEK2, and PALB2. Cohort (n = 6, 40%) and case-control (n = 5, 33%) studies were the two most common study designs, followed by family-based (n = 3, 20%), and a kin-cohort study (n = 1, 7%). Seven of the 15 studies (47%) adjusted for ascertainment adequately and therefore the MBC risks reported by these seven studies can be considered applicable to the general population. Based on these seven studies, we found pathogenic variants in ATM, BRCA2, CHEK2 c.1100delC, and PALB2 show an increased risk for MBC. The association between BRCA1 and MBC was not statistically significant. CONCLUSION: This work supports the conclusion that pathogenic variants in ATM, BRCA2, CHEK2 c.1100delC, and PALB2 increase the risk of MBC, whereas pathogenic variants in BRCA1 may not be associated with increased MBC risk.

Surveillance mammography after treatment for male breast cancer.

PURPOSE: To identify the practice patterns related to use of surveillance mammography in male breast cancer (MaBC) survivors. METHODS: Using administrative claims data from OptumLabs Data Warehouse, we identified men who underwent surgery for breast cancer during 2007-2017. We calculated the proportion of men who had at least one mammogram (a) within 13 months for all patients and (b) within 24 months amongst those who maintained their insurance coverage for at least that length of time after surgery. Multivariate logistic regression modeling was used to identify factors associated with mammography within each timeframe. RESULTS: Out of 729 total MaBC survivors, 209 (29%) underwent mammography within 13 months after surgery. Among those who had lumpectomy, 41% underwent mammography, whereas among those who had mastectomy, 27% had mammography. Amongst 526 men who maintained consistent insurance coverage for 24 months after surgery, 215 (41%) underwent mammography at least once during that 24-month period. In this cohort, the proportion who had at least one mammogram during the 24-month period was 49% after lumpectomy and 40% after mastectomy. In a multivariate logistic regression model, more recent diagnosis (2015+) and older age at diagnosis were associated with lower odds of undergoing mammography, while receipt of radiation was associated with higher odds of undergoing mammography. CONCLUSIONS: Although recent ASCO guidelines recommend surveillance mammography after lumpectomy, a minority of MaBC survivors undergo surveillance mammography, even after lumpectomy. This is likely due to the paucity of data regarding the true benefits and harms of surveillance/screening mammography for MaBC.

An introduction to male breast cancer for urologists: epidemiology, diagnosis, principles of treatment, and special situations.

Breast cancer (BC) is mainly considered a disease in women, but male BC (MaBC) accounts for approximately 1.0% of BC diagnoses and 0.5% of malignant neoplasms in the western population. The stigmatization of MaBC, the fact that men are less likely to undergo regular health screenings, and the limited knowledge of health professionals about MaBC contribute to men being diagnosed at more advanced stages. The aim of this article is to increase the visibility of MaBC among urologists, who have more contact with male patients. This review highlights key points about the disease, the risk factors associated with MaBC, and the options for treatment. Obesity and increased population longevity are among the important risk factors for MaBC, but published studies have identified family history as extremely relevant in these patients and associated with a high penetrance at any age. There is currently no screening for MaBC in the general population, but the possibility of screening in men at high risk for developing BC can be considered. The treatment of MaBC is multidisciplinary, and, because of its rarity, there are no robust clinical studies evaluating the role of systemic therapies in the management of both localized and metastatic disease. Therefore, in current clinical practice, treatment strategies for men with breast cancer are extrapolated from information arising from studies in female patients.

Germline pathogenic variant spectrum in 25 cancer susceptibility genes in Turkish breast and colorectal cancer patients and elderly controls.

Inherited pathogenic variants account for 5% to 10% of all breast cancer (BC) and colorectal cancer (CRC) cases. Here, we sought to profile the pathogenic variants in 25 cancer susceptibility genes in Turkish population. Germline pathogenic variants were screened in 732 BC patients, 189 CRC patients and 490 cancer-free elderly controls, using next-generation sequencing-based multigene panel testing and multiplex ligation-dependent probe amplification testing. Pathogenic variants were detected in 17.2% of high-risk BC patients and 26.4% of high-risk CRC patients. More than 95% of these variants were clinically actionable. BRCA1/2 and mismatch repair genes (MLH1, MSH2 and MSH6) accounted for two-thirds of all pathogenic variants detected in high-risk BC and CRC patients, respectively. Pathogenic variants in PALB2, CHEK2, ATM and TP53 were also prevalent in high-risk BC patients (4.5%). BRCA1 exons 17-18 deletion and CHEK2 c.592+3A>T were the most common variants predisposing to BC, and they are likely to be founder variants. Three frequent MUTYH pathogenic variants (c.884C>T, c.1437_1439delGGA and c.1187G>A) were responsible for all MUTYH biallelic cases (4.4% of high-risk CRC patients). The total pathogenic variant frequency was very low in controls (2.4%) and in low-risk BC (3.9%) and CRC (6.1%) patients. Our study depicts the pathogenic variant spectrum and prevalence in Turkish BC and CRC patients, guiding clinicians and health authorities for genetic testing applications and variant classification in Turkish population.

The prognostic significance of metastatic pattern in stage IV male breast cancer at initial diagnosis: a population-based study.

PURPOSE: Metastatic pattern (MP) is a prognostic factor in women with breast cancer. However, the prognostic significance of MP in male breast cancer patients remains unknown. METHODS: Using the SEER database, we gathered demographic information and disease characteristics for men diagnosed with de novo metastatic breast cancer from 2010 to 2017. Metastases to bone, brain, liver, and lung were used to define MP (bone-only, visceral, bone and visceral [BV], or other). Statistical analyses were performed to identify associations between overall survival (OS) and MP, as well as other patient and tumor features. We used multivariate logistic regression to evaluate factors associated with sites of metastases. RESULTS: We included 250 patients. MP distribution was bone = 38.8%, visceral = 14.8%, BV = 33.2%, and other = 13.2%. Median OS for each was bone = 33 months, visceral = 23 months, BV = 20 months, and other = 46 months (p = 0.046). Patients with brain metastases had significantly shorter OS compared with no brain metastases (median OS = 9 months vs. 30 months; p < 0.001). Compared with other subtypes, triple negative had the shortest OS (median 9 months, p < 0.001). Logistic regression modeling revealed that compared with HR+/HER2- breast cancers, HR-/HER2+ had higher odds of liver metastases and triple negative had higher odds of brain metastases. Patients younger than 50 years had a significantly greater risk of developing brain metastases. CONCLUSIONS: MP and tumor subtype can predict OS outcomes in men with metastatic breast cancer at diagnosis. Brain metastases confer very poor prognosis.

Tumor subtypes and survival in male breast cancer.

PURPOSE: Male breast cancer is an uncommon disease, and population-based information regarding prognostic factors is limited. Most cases are hormone receptor (HR) positive; however, the association of tumor subtype with overall survival (OS) and breast cancer-specific survival (BCSS) is unclear. METHODS: Using SEER data, we identified men with invasive breast cancer between 2010 and 2017 with known HR and HER2 status. We examined tumor subtypes by patient characteristics and performed multivariate Cox proportional hazards analyses to determine the associations of each variable with OS and BCSS. RESULTS: We included 2389 men with a median follow-up of 43 months (IQR 19-68). Median age was 66 years. Tumor subtype distribution was 84.1% HR+/HER2-, 12.7% HR+/HER2+ , 0.8% HR-/HER2+, and 2.3% triple-negative (TN). In univariate analysis, OS at 5 years was 76.5% for HR+/HER2-, 65.1% for HR+/HER2+ , 84.2% for HR-/HER2+, and 48.1% for TN (p < 0.0001). Of all subtypes, TN had the worst BCSS (p < 0.0001). Stage, tumor subtype and race were significantly associated with OS and BCSS in multivariate analysis. Adjusted Cox hazard ratios for OS by tumor subtype with HR+/HER2- as reference were 1.55 for HR+/HER2+ (p = 0.001), 1.1 for HR-/HER2+ (p = 0.888), and 3.59 for TN (p < 0.001). CONCLUSION: We observed significant differences in survival outcomes by tumor subtype. Poor outcomes among men with HER2+ and TN disease suggest possible under-treatment, aggressive tumor biology, and/or more advanced disease at presentation. Studies to better understand the inferior survival for men with these subtypes are warranted and will likely require international collaboration.

Family history of breast cancer in men with non-BRCA male breast cancer: implications for cancer risk counseling.

PURPOSE: The role of genetic predisposition in male breast cancer (MBC) patients who test negative for a BRCA mutation is unclear. The aim of this study is to define the association between MBC and family history of breast cancer in patients without mutations in BRCA1 or BRCA2. METHODS: We conducted an unmatched case-control study with men who received commercial testing for germline mutations in cancer susceptibility genes, including 3,647 MBC cases who tested negative for deleterious mutations in BRCA1/BRCA2, and 4,269 men with a personal history of colorectal cancer who tested negative for mutations in DNA mismatch repair genes to serve as controls. Associations between family history of breast cancer and MBC were estimated using unconditional multivariable logistic regression with adjustment for age, race/ethnicity and year of testing. RESULTS: Breast cancer in a first- or second-degree relative was associated with a four-fold increased odds of MBC (OR 4.7; 95% CI 4.1, 5.3). Associations with MBC were strongest for family history of breast cancer in 2 or more first-degree relatives (FDR) (OR 7.8; 95% CI 5.2, 11.6), for probands and FDR diagnosed at age < 45 years (OR 6.9; 95% CI 3.9, 12.4), and for family history of MBC (OR 17.9; 95% CI 7.6, 42.1). Findings were confirmed in a sensitivity analysis of MBC cases who tested negative on a 25-gene pan-cancer panel. CONCLUSIONS: MBC patients without mutations in BRCA1/2 have significantly higher odds of a family history of breast cancer, suggesting the existence of unidentified MBC susceptibility alleles.

Trend and survival benefit of contralateral prophylactic mastectomy among men with stage I-III unilateral breast cancer in the USA, 1998-2016.

PURPOSE: Our study aimed to explore temporal trends and survival benefit of contralateral prophylactic mastectomy (CPM) in male breast cancer (MBC). METHODS: Men with stage I-III unilateral breast cancer between 1998 and 2016 were identified from the surveillance, epidemiology, and end results (SEER). We compared CPM rate over the study period using the Cochrane-Armitage test for trend. Logistic regression model was used to test for factors predicting CPM. Survival analysis was conducted in patients who underwent CPM or unilateral mastectomy (UM) with a first diagnosis of unilateral breast cancer. Kaplan-Meier curve and univariate and multivariable Cox proportional hazards regression analyses were performed to compare overall survival (OS) and breast cancer-specific survival (BCSS) between CPM and UM groups. Propensity score matching was adopted to balance baseline characteristics. RESULTS: 5118 MBC cases were included in the present study, with 4.1% (n = 209) patients underwent CPM. The proportion of men undergoing CPM increased from 1.7 in 1998 to 6.3% in 2016 (P < 0.0001). Young age, recent years of diagnosis, higher tumor grade and lower T stage were significantly associated with CPM. A cohort of 3566 patients were enrolled in survival analysis with a median follow-up of 65 months. CPM was associated with better OS (HR 0.58, 95% CI 0.37-0.89, P = 0.022) rather than BCSS (HR 0.57, 95% CI 0.29-1.11, P = 0.153) compared with UM. In propensity score-matched model, CPM was not an independent prognostic factor for OS (HR 0.83, 95% CI 0.46-1.52, P = 0.553) and BCSS (HR 0.98, 95% CI 0.39-2.47, P = 0.970). CONCLUSION: Our study revealed a dramatic increase in CPM utilization among MBC, especially in young patients. However, CPM provides no survival benefit for MBC compared with UM, indicating the decision of CPM should be fully discussed.

Hormone receptor-positive breast cancer and black race: does sex matter?

PURPOSE: Black breast cancer patients have worse clinical outcomes than their White counterparts. There are few studies comparing clinical outcomes between Black male breast cancer (MBC) and female breast cancer (FBC) patients. The objective of this study is to examine differences in presentation, treatment, and mortality between Black MBC and FBC. METHODS: The National Cancer Database was queried for all Black MBC and FBC patients, ages 18-90, with hormone receptor-positive breast cancer diagnosed between 2010 and 2016. Hormone receptor positivity was defined as estrogen receptor-positive, progesterone-positive and HER 2-negative cancer. Sociodemographic and clinical variables were compared between MBC and FBC patients on bivariable analysis. After propensity score matching, overall survival was evaluated using the log-rank test and Cox proportional hazards. RESULTS: Compared to FBC patients, MBC patients had higher rates of metastatic disease (stage 4, MBC 4.4% vs. FBC 2.6%, p < 0.001), larger tumors (tumor size < 2 cm, MBC 32.1 vs. FBC 49.1%, p < 0.001) and a higher percentage of poorly differentiated tumors (grade 3, MBC 28.5% vs. FBC 21.4%, p < 0.001). MBC patients had lower rates of hormone therapy (MBC 66.4% vs. FBC 80.7%, p < 0.001) and neoadjuvant chemotherapy (MBC 5.8% vs. FBC 7.5%, p = 0.05) than FBC. On propensity score matched analysis, Black MBC patients had a higher overall mortality (p25 of 60 months vs. 74 months) compared to FBC patients (p = 0.0260). CONCLUSION: Among hormone receptor-positive Black MBC and FBC patients, there are sex-based disparities in stage, hormone therapy use and overall survival.

Genetic testing results in Slovenian male breast cancer cohort indicate the BRCA2 7806-2A > G founder variant could be associated with higher male breast cancer risk.

PURPOSE: To analyze the prevalence of pathogenic/likely pathogenic variants (P/LPVs) in BRCA1 and BRCA2 genes in the largest cohort of Slovenian male breast cancer (MBC) patients to date and to explore a possible correlation between the Slovenian founder variant BRCA2:c.7806-2A > G and predisposition to MBC. METHODS: We performed a retrospective analysis of 81 MBC cases who underwent genetic counseling and/or testing between January 1999 and May 2020. To explore a possible genotype-phenotype correlation, we performed additional analyses of 203 unrelated families with P/LPVs in BRCA2 and 177 cases of female breast cancer (FBC) in carriers of P/LPVs in BRCA2. RESULTS: Detection rate of P/LPVs in the BRCA1 and BRCA2 genes was 24.7% (20/81) with 95% of them in BRCA2 gene. The only two recurrent P/LPVs were BRCA2:c.7806-2A > G and BRCA2:c.3975_3978dupTGCT (9 and 5 MBC cases, respectively). In families with BRCA2:c.7806-2A > G, the incidence of MBC cases was higher compared to families with other P/LPVs in BRCA2; however, the difference did not reach statistical significance (17.8% vs. 8.9%, p = 0.105). BRCA2:c.7806-2A > G was detected in both families with multiple cases of MBC. This splice-site variant represented a significantly higher proportion of all BRCA2 P/LPVs detected in MBC carriers compared to FBC carriers (47.4% vs. 26%, p = 0.049). CONCLUSION: We observed a high mutation detection rate and conclude this may be due to the prevalent BRCA2:c.7806-2A > G variant in Slovenia. Our results indicate a possible association between this variant and higher risk of breast cancer in males compared to other identified P/LPVs in BRCA2.

Genetic predisposition to male breast cancer in Poland.

BACKGROUND: Breast cancer in men accounts for fewer than 1 % of all breast cancer cases diagnosed in men and women. Genes which predispose to male breast cancer include BRCA1 and BRCA2. The role of other genes is less clear. In Poland, 20 founder mutations in BRCA1, BRCA2, CHEK2, PALB2, NBN, RECQL are responsible for the majority of hereditary breast cancer cases in women, but the utility this genes panel has not been tested in men. METHODS: We estimated the prevalence of 20 alleles in six genes (BRCA1, BRCA2, CHEK2, PALB2, NBN, RECQL) in 165 Polish male breast cancer patients. We compared the frequency of selected variants in male breast cancer cases and controls. RESULTS: One of the 20 mutations was seen in 22 of 165 cases (13.3%). Only one BRCA1 mutation and two BRCA2 mutations were found. We observed statistically significant associations for PALB2 and CHEK2 truncating mutations. A PALB2 mutation was detected in four cases (OR = 11.66; p < 0.001). A CHEK2 truncating mutation was detected in five cases (OR = 2.93;p = 0.02). CONCLUSION: In conclusion, we recommend that a molecular test for BRCA1, BRCA2, PALB2 and CHEK2 recurrent mutations should be offered to male breast cancer patients in Poland.