Male Breast Cancer in the Age of Genetic Testing: An Opportunity for Early Detection, Tailored Therapy, and Surveillance

Abstract

In detection, treatment, and follow-up, male breast cancer has historically lagged behind female breast cancer. On the whole, breast cancer is less common among men than among women, limiting utility of screening, yet the incidence of male breast cancer is rising, and there are men at high risk for breast cancer. While women at high risk for breast cancer are well characterized, with clearly established guidelines for screening, supplemental screening, risk prevention, counseling, and advocacy, men at high risk for breast cancer are poorly identified and represent a blind spot in public health. Today, more standardized genetic counseling and wider availability of genetic testing are allowing identification of high-risk male relatives of women with breast cancer, as well as men with genetic mutations predisposing to breast cancer. This could provide a new opportunity to update our approach to male breast cancer. This article reviews male breast cancer demographics, risk factors, tumor biology, and oncogenetics; recognizes how male breast cancer differs from its female counterpart; highlights its diagnostic challenges; discusses the implications of the widening clinical use of multigene panel testing; outlines current National Comprehensive Cancer Network guidelines (version 1, 2018) for high-risk men; and explores the possible utility of targeted screening and surveillance. Understanding the current state of male breast cancer management and its challenges is important to shape future considerations for care. Shifting the paradigm of male breast cancer detection toward targeted precision medicine may be the answer to improving clinical outcomes of this uncommon disease. RSNA, 2018.

Men with breast cancer experience stigma in the waiting room

“…One of the most immediate and less costly ways to do so would be to post imagery featuring MBC and masculine‐presenting breast cancer survivors in these environments. Such exposure might also help normalize MBC for survivors at one of the most vulnerable stages of cancer survivorship (diagnosis), setting the tone for subsequent health care experiences. To this end, we worked with the patient advocacy organization Male Breast Cancer Coalition to develop a free poster that can be accessed through their Web site (https://malebreastcancercoalition.org) or here: [https://bit.ly/2pT3urw].…”

“…Greater visibility of MBC where routine mammography and genetic counseling services are delivered might also raise women's awareness of MBC. These women might in turn play a role in earlier detection for a male relation, especially in families where genetic screening indicates risk factors such as BRCA mutations . This could be particularly important, given that men with breast cancer are often diagnosed at more advanced stages of disease, and therefore face poorer prognoses than women …”

Analysis of Epigenetic Alterations in Homologous Recombination DNA Repair Genes in Male Breast Cancer

“…One patient with gynecomastia and prostate carcinoma harbored a germline BRCA2 mutation. 1 Excluding eight in situ carcinomas.…”

“…Male breast carcinoma (BC) is a multifactorial neoplasm lacking specific guidelines for detection, therapy and surveillance. Although it constitutes a rare entity, comparatively to its female counterpart, incidence has been rising over the last decades [1,2]. Furthermore, advanced stage disease is rather common at diagnosis [1].…”

“…Although it constitutes a rare entity, comparatively to its female counterpart, incidence has been rising over the last decades [1,2]. Furthermore, advanced stage disease is rather common at diagnosis [1]. Although several genetic, hormonal, and environmental risk factors have been 2 of 12 acknowledged, an in-depth understanding of the biologic peculiarities of male breast carcinogenesis is clearly lacking [3].…”