J Pathol Transl Med.  2020 Jul;54(4):265-275. 10.4132/jptm.2020.04.07.

Clinicopathological characteristics of BRCA-associated breast cancer in Asian patients

• Kim EK
• Park SY
• Kim SW

• KMID: 2504557
• DOI: http://doi.org/10.4132/jptm.2020.04.07

Abstract

BRCA1/2 germline mutations account for the majority of hereditary breast cancers. Since the identification of the BRCA genes, several attempts have been made to define the clinicopathological characteristics of BRCA-associated breast cancer in comparison with sporadic breast cancer. Asians constitute 60% of the world population, and although the incidence of breast cancer in Asia remains low compared to the West, breast cancer is the most prevalent female cancer in the region. The epidemiological aspects of breast cancer are different between Asians and Caucasians. Asian patients present with breast cancer at a younger age than Western patients. The contributions of BRCA1/2 mutations to breast cancer incidence are expected to differ between Asians and Caucasians, and the different genetic backgrounds among races are likely to influence the breast cancer phenotypes. However, most large-scale studies on the clinicopathological characteristics of BRCA-associated breast cancer have been on Western patients, while studies on Asian populations were small and sporadic. In this review, we provide an overview of the clinical and pathological characteristics of BRCA-associated breast cancer, incorporating findings on Asian patients.

Keyword

Breast neoplasms; Genes, BRCA1; Genes, BRCA2; Asian Continental Ancestry Group

Figure

• 

  Fig. 1. A representative example of BRCA1-associated breast cancer diagnosed with invasive carcinoma with medullary features. (A) Low power view reveals a well-circumscribed tumor with a pushing margin and heavy lymphocytic infiltration. There are no desmoplastic stroma and no carcinoma in situ component. (B) The tumor shows a syncytial growth pattern with central necrosis. (C) Tumor cells show marked nuclear pleomorphism and frequent mitoses. Estrogen receptor (D), progesterone receptor (E), and human epidermal growth factor receptor-2 (F) are all negative on immunohistochemistry.

• 

  Fig. 2. A representative example of BRCA2-associated breast cancer diagnosed as high grade invasive ductal carcinoma (invasive carcinoma of no special type). (A) Low power view reveals an ill-defined tumor with an infiltrative margin. The tumor reveals desmoplastic stroma and ductal carcinoma in situ component on the left. (B, C) The tumor shows less tubule formation, moderate nuclear pleomorphism, and frequent mitoses. Estrogen receptor (D) is diffuse positive, progesterone receptor (E) is focal positive, and human epidermal growth factor receptor-2 (F) is 1+/3 on immunohistochemistry.

Reference

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