Male Breast Cancer: An Updated Review of Epidemiology, Clinicopathology, and Treatment

Zheng, Guoliang; Leone, José Pablo

doi:10.1155/2022/1734049

Cited by 31 publications

(27 citation statements)

References 117 publications

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“…In conclusion, our study results continue to pursue the overall objective of better understanding genetic predisposition to mBC for developing appropriate clinical approaches for sex-specific risk prediction, which could lead to more targeted screening and treatment programs for male PV carriers. It remains to be determined whether the germline mutation status in BRCA1/2, ATM, CHEK2 and PALB2 predicts favourable or unfavourable targeted therapy response in mBC patients, e.g., regarding PARP or CDK4/6 inhibitors [38].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer

Rolfes

Borde

Möllenhoff

et al. 2022

Cancers

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Male breast cancer (mBC) is associated with a high prevalence of pathogenic variants (PVs) in the BRCA2 gene; however, data regarding other BC predisposition genes are limited. In this retrospective multicenter study, we investigated the prevalence of PVs in BRCA1/2 and 23 non-BRCA1/2 genes using a sample of 614 patients with mBC, recruited through the centers of the German Consortium for Hereditary Breast and Ovarian Cancer. A high proportion of patients with mBC carried PVs in BRCA2 (23.0%, 142/614) and BRCA1 (4.6%, 28/614). The prevalence of BRCA1/2 PVs was 11.0% in patients with mBC without a family history of breast and/or ovarian cancer. Patients with BRCA1/2 PVs did not show an earlier disease onset than those without. The predominant clinical presentation of tumor phenotypes was estrogen receptor (ER)-positive, progesterone receptor (PR)-positive, and HER2-negative (77.7%); further, 10.2% of the tumors were triple-positive, and 1.2% were triple-negative. No association was found between ER/PR/HER2 status and BRCA1/2 PV occurrence. Comparing the prevalence of protein-truncating variants (PTVs) between patients with mBC and control data (ExAC, n = 27,173) revealed significant associations of PTVs in both BRCA1 and BRCA2 with mBC (BRCA1: OR = 17.04, 95% CI = 10.54–26.82, p < 10−5; BRCA2: OR = 77.71, 95% CI = 58.71–102.33, p < 10−5). A case-control investigation of 23 non-BRCA1/2 genes in 340 BRCA1/2-negative patients and ExAC controls revealed significant associations of PTVs in CHEK2, PALB2, and ATM with mBC (CHEK2: OR = 3.78, 95% CI = 1.59–7.71, p = 0.002; PALB2: OR = 14.77, 95% CI = 5.02–36.02, p < 10−5; ATM: OR = 3.36, 95% CI = 0.89–8.96, p = 0.04). Overall, our findings support the benefit of multi-gene panel testing in patients with mBC irrespective of their family history, age at disease onset, and tumor phenotype.

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Section: Discussionmentioning

confidence: 99%

Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer

Rolfes

Borde

Möllenhoff

et al. 2022

Cancers

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“…In a study of 60 male breast cancer specimens with a familial background, Deb et al [ 84 ] also found no evidence of CDH1 gene methylation in this special subgroup of human breast cancer using HRM. Male breast cancer makes up approximately 1% of all human breast cancer cases [ 85 ].…”

Section: In Breast Cancermentioning

confidence: 99%

CDH1 (E-cadherin) Gene Methylation in Human Breast Cancer: Critical Appraisal of a Long and Twisted Story

Bücker

Lehmann

2022

Cancers

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Epigenetic inactivation of a tumor suppressor gene by aberrant DNA methylation is a well-established defect in human tumor cells, complementing genetic inactivation by mutation (germline or somatic). In human breast cancer, aberrant gene methylation has diagnostic, prognostic, and predictive potential. A prominent example is the hypermethylation of the CDH1 gene, encoding the adhesion protein E-Cadherin (“epithelial cadherin”). In numerous publications, it is reported as frequently affected by gene methylation in human breast cancer. However, over more than two decades of research, contradictory results concerning CDH1 gene methylation in human breast cancer accumulated. Therefore, we review the available evidence for and against the role of DNA methylation of the CDH1 gene in human breast cancer and discuss in detail the methodological reasons for conflicting results, which are of general importance for the analysis of aberrant DNA methylation in human cancer specimens. Since the loss of E-cadherin protein expression is a hallmark of invasive lobular breast cancer (ILBC), special attention is paid to CDH1 gene methylation as a potential mechanism for loss of expression in this special subtype of human breast cancer. Proper understanding of the methodological basis is of utmost importance for the correct interpretation of results supposed to demonstrate the presence and clinical relevance of aberrant DNA methylation in cancer specimens.

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“…Invasive ductal carcinoma (IDC) is the most prevalent subtype of breast cancer, accounting for approximately 80% of all diagnosed cases in women of all ages and 85% of male breast cancers 8 , 9 . Invasive lobular carcinoma (ILC), the second most common subtype, accounts for 10-15% of all breast cancers 10 .…”

Section: Introductionmentioning

confidence: 99%

Comparison of clinicopathologic characteristics and survival outcomes of various subtypes of breast cancer

Zangouri,

Balaneji,

Deylami

et al. 2024

Preprint

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Background Breast cancer is often classified into subtypes using immunohistochemical markers. This study aimed to compare the histopathological features, prognostic indicators, and clinical outcomes of diverse breast cancer subtypes. Patients and methods: A retrospective study was undertaken and all patients of various subtype of breast cancer over a 5 year period were included. Clinicopathological characteristics, including tumor size, lymph node (LN) metastasis, histological grade, immunohistochemical markers (estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2neu status), TNM staging, lymphovascular invasion (LVI), perineural invasion (PNI), and overall survival (OS),and Disease free survival(DFS) were comprehensively evaluated. Results Of the 9310 individuals diagnosed with breast cancer, a vast majority (99.4%) was females. Patients with invasive papillary carcinoma tumor subtypes presented with an older mean age (57.24 ± 12.92) years. Tumor grade exhibited a statistically significant correlation with tumor subtype (P < 0.001). Invasive lobular carcinoma (94.8%), IPC (94.3%), and mucinous carcinoma (93.6%) demonstrated excellent OS rates in stages I, II, and III. However, ICMP (94.6%) exhibited superior OS in stages II and III. In terms of DFS, IPC (94.2%), mucinous carcinoma (94.5%), and ICMP (93.6%) showed favorable DFS rates in TNM stages 1 and 2, with ICMP maintaining exceptional DFS rates in stage 3. Conclusion Invasive carcinoma with medullary features has the highest DFS rate across all stages, while mucinous and invasive papillary carcinoma have the highest DFS rates in TNM stage 1. Mucinous tumors have the highest DFS rates in TNM stage 2, followed by invasive carcinoma with medullary features. Invasive lobular carcinoma, invasive papillary carcinoma, and mucinous tumors had excellent overall survival (OS) rates in stages I, II, and III. Invasive carcinoma with medullary features had superior OS in stages II and III.

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Male Breast Cancer: An Updated Review of Epidemiology, Clinicopathology, and Treatment

Cited by 31 publications

References 117 publications

Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer

Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer

CDH1 (E-cadherin) Gene Methylation in Human Breast Cancer: Critical Appraisal of a Long and Twisted Story

Comparison of clinicopathologic characteristics and survival outcomes of various subtypes of breast cancer

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