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Review
. 2016 Jan;53(1):15-23.
doi: 10.1136/jmedgenet-2015-103132. Epub 2015 Jul 17.

Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries

Ava Kwong  1 , Vivian Y Shin  2 , John C W Ho  3 , Eunyoung Kang  4 , Seigo Nakamura  5 , Soo-Hwang Teo  6 , Ann S G Lee  7 , Jen-Hwei Sng  8 , Ophira M Ginsburg  9 , Allison W Kurian  10 , Jeffrey N Weitzel  11 , Man-Ting Siu  2 , Fian B F Law  12 , Tsun-Leung Chan  12 , Steven A Narod  9 , James M Ford  10 , Edmond S K Ma  12 , Sung-Won Kim  4
Affiliations
Review

Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries

Ava Kwong et al. J Med Genet. 2016 Jan.

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.

Keywords: Asians; BRCA1; BRCA2; Cancer: breast; Germline mutations.

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Conflict of interest statement

Competing interests None declared.

References

    1. Howlader N, Ries LA, Mariotto AB, Reichman ME, Ruhl J, Cronin KA. Improved estimates of cancer-specific survival rates from population-based data. J Natl Cancer Inst. 2010;102:1584–98. - PMC - PubMed
    1. Ripperger T, Gadzicki D, Meindl A, Schlegelberger B. Breast cancer susceptibility: current knowledge and implications for genetic counselling. Eur J Hum Genet. 2009;17:722–31. - PMC - PubMed
    1. Fackenthal JD, Olopade OI. Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer. 2007;7:937–48. - PubMed
    1. Couch FJ, Nathanson KL, Offit K. Two decades after BRCA: setting paradigms in personalized cancer care and prevention. Science. 2014;343:1466–70. - PMC - PubMed
    1. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Zelada-Hedman M. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998;62:676–89. - PMC - PubMed

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