Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer

Ava Kwong,K H Kwan,M Poon,William W.‐C Chan ,Kwok Keung Chan ,Cheuk-Wai Choi ,Dacita Suen ,Lina Ho ,Yong Tang ,Enders K.w Ng ,Laurence Wong ,Marcus Ying ,Wing-Cheong Chan ,Edmond S.k ,Siu On Chan ,Hiu Yung Wong ,Ting Ting Wong ,Fian B.f Law ,James M Ford ,Dee W West

doi:10.1007/s11568-010-9136-z

Abstract

Breast cancers related to BRCA mutations are associated with particular biological features. Here we report the clinical and pathological characteristics of breast cancer in Chinese women with and without BRCA mutations and of carriers of BRCA1 mutations compared to BRCA2 mutations. Two hundred and 26 high-risk Hong Kong Chinese women were tested for BRCA mutations, medical information was obtained from medical records, and risk and demographic information was obtained from personal interviews. In this cohort, 28 (12.4%) women were BRCA mutation carriers and among these carriers, 39.3% were BRCA1 and 60.7% were BRCA2 mutations. Mutation carriers were more likely to have a familial history of breast and ovarian cancer, high-grade cancers, and triple negative (TN) cancers. Prevalence of TN was 48.3% in BRCA carriers and 25.6% in non-carriers and was 67.7% in BRCA1 and 35.3% in BRCA2 carriers. Estrogen receptor (ER) negative cancer was significantly associated with BRCA1 mutations, especially in those under 40 years of age. BRCA-related breast cancer in this Chinese population is associated with family history and adverse pathological/prognostic features, with BRCA2 mutations being more prevalent but BRCA1 carriers having more aggressive and TN cancers. Compared to Caucasian populations, prevalence of BRCA2 mutations and TN cancer in BRCA2 mutation carriers in Chinese population are elevated.

Highlights

BRCA mutations are known to be related to breast cancers with distinct clinical and pathological features compared to sporadic breast cancers (Basu et al 2008; Atchley et al 2008)
Two hundred and 26 high-risk Hong Kong Chinese women were tested for BRCA mutations, medical information was obtained from medical records, Preliminary results presented in part at San Antonio Breast Cancer Symposium 10–14 December 2008 and ASCO meeting 29 May—2 June 2009
This study identifies clinical and tumor pathologic features of breast cancer related to BRCA mutation inheritance, compared to those without mutations, and compares cancers from BRCA1 and BRCA2 mutation carriers

Summary

Introduction

BRCA mutations are known to be related to breast cancers with distinct clinical and pathological features compared to sporadic breast cancers (Basu et al 2008; Atchley et al 2008). Studies in Western literature report potential epidemiological, clinical, and biological differences in breast cancer between Asian and Caucasian populations (John et al 2007, Fackenthal and Olopade 2007). These data highlight the need to determine clinical and pathological characteristics in BRCA carriers in different populations, since these differences may affect future risk assessment, treatment planning, and outcomes. To address these issues we report information from a multicenter study of Chinese high-risk patients residing in the Hong Kong Special Administrative Region of the People’s Republic of China (HKSAR) in Southern China. This study identifies clinical and tumor pathologic features of breast cancer related to BRCA mutation inheritance, compared to those without mutations, and compares cancers from BRCA1 and BRCA2 mutation carriers

Methods

Results

Conclusion