scholarly journals Male Breast Cancer: Surgical and Genetic Features and a Multidisciplinary Management Strategy

Breast Care ◽  
2019 ◽  
Vol 15 (1) ◽  
pp. 14-21 ◽  
Author(s):  
Francesca Pellini ◽  
Eleonora Granuzzo ◽  
Silvia Urbani ◽  
Sara Mirandola ◽  
Marina Caldana ◽  
...  

Background: Male breast cancer (MBC) is a rare disease with a rising incidence trend. The major risk factors related to MBC are a positive family history of breast cancer (BC) and BRCA1/2 mutations, which indicate a relevant genetic role. Methods: In this retrospective series, we enrolled 69 male patients presenting with male breast cancer (MBC) between 01/01/1992 and 31/12/2018, and 26 high-risk not-affected men presenting between 01/01/2016 and 31/12/2018. Participants’ electronic clinical records were reviewed. Patients’ data reported age at diagnosis, tumor characteristics, therapeutic management, and BRCA1/2 status as well as a family history of breast, ovarian, or prostate cancer (PCa) in first-degree relatives. Results: We analyzed 69 MBC patients. Median age was 64 years. The majority of tumors diagnosed were of an early TNM stage. The most frequent histological subtype was invasive ductal carcinoma (76.7%). Hormone receptors were positive in >90% of MBC cases. Nearly all patients underwent modified radical mastectomy or total mastectomy. Adjuvant endocrine therapy was delivered in 59.4%. Among MBC-affected patients, we recorded a high percentage of a positive family history of BC. Mutational analysis for the BRCA1/2 genes was performed in 17 MBC patients; 11.8% were carriers of BRCA2 pathogenic mutations. Among 26 healthy high-risk subjects included in this case series, 4 were BRCA1 mutation carriers and 9 were BRCA2 mutation carriers. Discussion: We evaluated the distribution of clinicopathological characteristics in MBC subjects and assessed the frequency of mutations in the BRCA genes in affected patients and healthy high-risk subjects, with the aim of proposing a surveillance program for BC and PCa.

2014 ◽  
Vol 8 (11-12) ◽  
pp. 783 ◽  
Author(s):  
Richard Walker ◽  
Alyssa Louis ◽  
Alejandro Berlin ◽  
Sheri Horsburgh ◽  
Robert G. Bristow ◽  
...  

Introduction: The prostate-specific antigen (PSA) era and resultant early detection of prostate cancer has presented clinicians with the challenge of distinguishing indolent from aggressive tumours. Mutations in the BRCA1/2 genes have been associated with prostate cancer risk and prognosis. We describe the prostate cancer screening characteristics of BRCA1/2 mutation carriers, who may be classified as genetically-defined high risk, as compared to another high-risk cohort of men with a family history of prostate cancer to evaluate the utility of a targeted screening approach for these men.Methods: We reviewed patient demographics, clinical screening characteristics, pathological features, and treatment outcomes between a group of BRCA1 or BRCA2 mutation carriers and age-matched men with a family history of prostate cancer followed at our institutional Prostate Cancer Prevention Clinic from 1995 to 2012.Results: Screening characteristics were similar between the mutation carriers (n = 53) and the family history group (n = 53). Some cancers would be missed in both groups by using a PSA cut-off of >4 ug/L. While cancer detection was higher in the family history group (21% vs. 15%), the mutation carrier group was more likely to have intermediate- or high-risk disease (88% vs. 36%). BRCA2 mutation carriers were more likely to have aggressive disease, biological recurrence, and distant metastasis.Conclusions: In our cohort, regular screening appears justified for detecting prostate cancer in BRCA1 and BRCA2 carriers and other high-risk populations. Lowering PSA cut-offs and defining monitoring of PSA velocity as part of the screening protocol may be useful. BRCA2 is associated with more aggressive disease, while the outcome for BRCA1 mutation carriers requires further study. Large multinational studies will be important to define screening techniques for this unique high-risk population.


2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e22226-e22226
Author(s):  
A. Kwong ◽  
L. Wong ◽  
C. Wong ◽  
F. Law ◽  
E. Tang ◽  
...  

e22226 Background: Breast cancers due to underlying germline BRCA1 and BRCA2 mutations are associated with particular pathological features that may differ from sporadic breast cancers. We report clinical and pathologic characteristics of breast cancer in a clinical cohort of high risk Chinese women with BRCA mutations and those without mutations. Methods: 202 high risk women based on their age and family history were recruited from March 2007 to November 2008. Medical information was prospectively collected from the patients and medical records. BRCA1 and BRCA2 mutations were detected using full gene sequencing and multiplex ligation-dependent probe amplification (MLPA). Results: Of the 202 female probands tested, 25 (12.3 %) were BRCA mutation carriers of which 11 (44%) were BRCA1 and 14 (56%) were BRCA2 mutations. Breast cancer risk factors, other than family history, did not differ between carriers and non-carriers. Mutation carriers were more likely to have a familial history of breast cancer (p=0.07) and personal and family history of ovarian cancer (p=0.005; p=0.007). Other cancers found in carriers families included pancreatic, gastric, colon, lung, liver, and nasopharyngeal. 23% of women diagnosed with DCIS had BRCA mutations compared with 11.4% of those with invasive cancers. BRCA related tumors were more likely to be ER, PR and Her-2 negative (Triple negative, TN) (p= 0.006). Overall 9.6% of non-BRCA cancers were TN whereas 25.9% of BRCA cancers were TN. Prevalence of TN in BRCA1 carriers is 71% compared with 13.4% in BRCA2 carriers. BRCA1 mutation related cancers were significantly more likely to be ER negative than BRCA2 and this is only significant in those who are under 40 years of age (p=0.070). Conclusions: We have a high BRCA2 mutation rate in our cohort. BRCA related breast cancer is associated with families with increasing number of first degree relatives with breast and/or ovarian cancers and were higher for DCIS cancers. Prevalence of TN breast cancers was high compared to Caucasian cohorts. BRCA mutations were associated with pathologically, poor prognostic features (TN and high grade) especially in younger women. No significant financial relationships to disclose.


2016 ◽  
Vol 18 (1) ◽  
Author(s):  
Valentina Silvestri ◽  
◽  
Daniel Barrowdale ◽  
Anna Marie Mulligan ◽  
Susan L. Neuhausen ◽  
...  

2009 ◽  
Vol 72 (1) ◽  
pp. 66-68
Author(s):  
M. Alagumuthu ◽  
Shriniwas R. Dussa ◽  
Tapas K. Rout ◽  
Bhupati B. Das ◽  
Siba P. Pattanayak ◽  
...  

2013 ◽  
Vol 31 (33) ◽  
pp. 4188-4198 ◽  
Author(s):  
Patricia G. Moorman ◽  
Laura J. Havrilesky ◽  
Jennifer M. Gierisch ◽  
Remy R. Coeytaux ◽  
William J. Lowery ◽  
...  

Purpose To estimate the risks of ovarian cancer and breast cancer associated with oral contraceptive (OC) use among women at elevated risk owing to mutations in BRCA1/2 or a strong family history. Methods We searched PubMed, Embase, the Cochrane Database of Systematic Reviews, and ClinicalTrials.gov for studies published 2000 to 2012 that evaluated associations between OC use and breast or ovarian cancer among women who are carriers of a BRCA1/2 mutation or have a family history of breast or ovarian cancer. Results From 6,476 unique citations, we identified six studies examining ovarian cancer risk in BRCA1/2 mutation carriers and eight studies examining breast cancer risk in BRCA1/2 mutation carriers. For BRCA1/2 mutation carriers combined, meta-analysis showed an inverse association between OC use and ovarian cancer (odds ratio [OR], 0.58; 95% CI, 0.46 to 0.73) and a nonstatistically significant association with breast cancer (OR, 1.21; 95% CI, 0.93 to 1.58). Findings were similar when examining BRCA1 and BRCA2 mutation carriers separately. Data were inadequate to perform meta-analyses examining duration or timing of use. For women with a family history of ovarian or breast cancer, we identified four studies examining risk for ovarian cancer and three for breast cancer, but differences between studies precluded combining the data for meta-analyses, and no overall pattern could be discerned. Conclusion Our analyses suggest that associations between ever use of OCs and ovarian and breast cancer among women who are BRCA1 or BRCA2 mutation carriers are similar to those reported for the general population.


2010 ◽  
Vol 76 (8) ◽  
pp. 879-882
Author(s):  
Suzanne C. Schiffman ◽  
Anees B. Chagpar

We sought to determine differences in risk perception and use of genetic testing in these individuals compared with those with a family history of female breast cancer (FHxFBC) in a population-based cohort. Data from the 2005 National Health Interview Survey were used to assess risk perception and use of genetic counseling in individuals with a family history of male breast cancer (FHxMBC) versus those with a FHxFBC. Of the 2429 individuals with a first-degree relative with breast cancer surveyed, 21 (0.7%) had a FHxMBC, whereas 2408 (99.3%) had a FHxFBC. Women who had a FHxMBC perceived themselves as being at higher risk for developing breast cancer than those with a FHxFBC (61.5 vs 46.5%, P = 0.011). Fewer individuals with a FHxMBC had heard about genetic testing than those with a FHxFBC (38.4 vs 50.8%, P = 0.322). Of these, none of the individuals with a FHxMBC discussed this with their physician (vs 13% of individuals with a FHxFBC, P = 0.004) and none underwent genetic testing (vs 3% of individuals with a FHxFBC, P = 0.009). Women with a FHxMBC perceive this as being associated with increased cancer risk, but few discuss this with their physicians. Physicians should be proactive in discussing risk with these patients.


2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 1571-1571
Author(s):  
Lauren Marie Hibler ◽  
Anees B. Chagpar

1571 Background: A family history of breast cancer increases the risk of developing this disease. We sought to determine the effect of a family history of a first degree relative with breast cancer (FDFHx) on adherence to mammography (MMG) and clinical breast examination (CBE) guidelines. Methods: The National Health Interview Survey (NHIS), conducted annually by the Centers for Disease Control, is designed to be representative of the US population. The 2010 NHIS data was used to evaluate the effect of FDFHx on the likelihood that women aged ≥ 30 had MMG and/or CBE within the past year. Results: Of the 12,320 women aged ≥ 30, 1276 (10.7%) had a FDFHx; 1263 (99.0%) of female breast cancer and 13 (1.0%) of male breast cancer. Overall, 4573 (38.4%) of women reported having had MMG within the past year; 5377 (46.3%) had CBE within the past year. FDFHx was associated with use of MMG and CBE within the past year (58.0% vs. 36.0%, p<0.001, and 57.5% vs. 45.0%, p<0.001, respectively). Women with a FDFHx of male breast cancer were no more likely to have MMG (72.5% vs. 57.9%, p=0.313) nor CBE (66.8% vs. 57.4%, p=0.518) within the past year than those with a FDFHx of female breast cancer. On multivariate analysis controlling for age, race, personal history of breast cancer (PHx), income, insurance, education and region, FDFHx was associated with a higher likelihood of having MMG (OR=1.75; 95% CI: 1.48-2.06, p<0.001) and CBE (OR=1.48; 95% CI: 1.26-1.74, p<0.001) within the past year. Region was not associated with adherence to either MMG or CBE screening guidelines. Conclusions: FDFHx, along with age, race, PHx, income, insurance, and education, is an independent predictor of adherence to screening MMG and CBE guidelines. Still, only 58% of women with a FDFHx had MMG and CBE in the past year. Further efforts are warranted to improve screening in this population at increased risk. [Table: see text]


1998 ◽  
Vol 43 (4) ◽  
pp. 375-380 ◽  
Author(s):  
Mary Jane Esplen ◽  
Brenda Toner ◽  
Jonathan Hunter ◽  
Gordon Glendon ◽  
Kate Butler ◽  
...  

Objective: To describe and illustrate elements of a group counselling approach designed to enhance the communication of risk information on breast cancer (BC) to women with a family history of this disease. Breast cancer is a leading cause of female cancer death. The most important risk factor for BC is a positive family history in at least 1 first-degree relative, and approximately one-third of women with BC have a family history of the disease. Recent evidence suggests that there is a significant psychological impact associated with having a family history of BC, and this may influence the psychological adjustment and response to being counselled for personal risk. New counselling approaches are required. Method: This paper describes a group therapy approach that incorporates principles of supportive-expressive therapy designed to address the emotional impact of being at risk for BC and to promote accuracy of perceived risk. The key elements of the intervention are described along with clinical illustrations from groups that are part of an ongoing study to develop and standardize the group therapy. Conclusion: Qualitative data from the groups suggest that this model of therapy is both feasible and effective.


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