Comprehensive spectrum ofBRCA1andBRCA2deleterious mutations in breast cancer in Asian countries

Abstract

Approximately 5%–10% of breast cancers are due to genetic predisposition caused by germline mutations; the most commonly tested genes are BRCA1 and BRCA2 mutations. Some mutations are unique to one family and others are recurrent; the spectrum of BRCA1/BRCA2 mutations varies depending on the geographical origins, populations or ethnic groups. In this review, we compiled data from 11 participating Asian countries (Bangladesh, Mainland China, Hong Kong SAR, Indonesia, Japan, Korea, Malaysia, Philippines, Singapore, Thailand and Vietnam), and from ethnic Asians residing in Canada and the USA. We have additionally conducted a literature review to include other Asian countries mainly in Central and Western Asia. We present the current pathogenic mutation spectrum of BRCA1/BRCA2 genes in patients with breast cancer in various Asian populations. Understanding BRCA1/BRCA2 mutations in Asians will help provide better risk assessment and clinical management of breast cancer.

Mutation Spectra of BRCA Genes in Iranian Women with Early Onset Breast Cancer - 15 Years Experience

“…We documented a variety of alteration demonstrating the framework for assessing the overall importance of BRCA1/2 analysis. Our findings not only provide a data set of BRCA alterations in high risk Iranian families with breast cancer, but also update and contribute to the present BC data set reported by Kwong et al in 2015. The overall knowledge of BRCA1/2 mutations will assist in genetic counseling and ultimately in the disease management of patients who need them the most.…”

“…Deleterious mutations in BRCA1 confer 60-85% lifetime risk of BC and 46-60% risk of ovarian cancer (OC) while BRCA2 mutations account for 40-85% lifetime risk of breast cancer (Lalloo and Evans, 2012). Thus far, over 500 types of various mutations have been defined in the Asian population with breast cancer (Kwong et al, 2015). The most prevalent mutations reported in the BRCA1 gene include c.68-69delAG, c.390C>A, c.470-471delCT and c.981-982delAT and c.7480C>T, c.1399A>T and c.3744-3747delTGAG in the BRCA2 gene.…”

“…The most prevalent mutations reported in the BRCA1 gene include c.68-69delAG, c.390C>A, c.470-471delCT and c.981-982delAT and c.7480C>T, c.1399A>T and c.3744-3747delTGAG in the BRCA2 gene. The genetic aberrations have been widely observed in Chinese, Japanese, Pakistani and Korean populations (Kwong et al, 2015). Despite significant advances in screening techniques, breast cancer evades conventional therapies generating disease relapse and claiming the lives of women worldwide.…”

“…Studies have shown that religious influence on lifestyle behaviors such as reproductive style, early age at first full-term pregnancy, higher number of births and more years of breast-feeding can extremely reduce the rate of female BC incidence (Merrill and Folsom, 2005;Sadjadi et al, 2009). Asians constitute 60% of the world population; hence, determination of risk of BC and mutation spectrum of the high penetrance genes can contribute to the better understanding and adoption of effective genetic testing (Kwong et al, 2015). The present retrospective cohort study aimed to identify the spectrum of BRCA mutations/variants in Iranian women with early onset BC during the past 15 years.…”

BRCA1 Gene Mutation Screening for the Hereditary Breast and/or Ovarian Cancer Syndrome in Breast Cancer Cases: a First High Resolution DNA Melting Analysis in Indonesia

“…To date, only few reports have been published about the spectrum of BRCA1 sequence variants in Indonesian population (Purnomosari et al, 2007;Kwong et al, 2015). It is interesting that the younger onset of breast cancer was identified in 68% (68 of 100 patients).…”