title: Comprehensive spectrum of BRCA1 and BRCA2 deleterious 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.
authors.affiliation: Department of Surgery, The University of Hong Kong, Hong Kong, Hong Kong Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong, Hong Kong Departments of Medicine (Oncology) and Genetics, Stanford University School of Medicine, Stanford, California, USA Department of Surgery, Hong Kong Sanatorium & Hospital, Hong Kong, Hong Kong.
authors.forename: Ava
authors.initials: A
authors.lastname: Kwong
authors.affiliation: Department of Surgery, The University of Hong Kong, Hong Kong, Hong Kong.
authors.forename: Vivian Y
authors.initials: VY
authors.lastname: Shin
authors.affiliation: Department of Surgery, The University of Hong Kong, Hong Kong, Hong Kong Department of Molecular Pathology, Hong Kong Sanatorium & Hospital, Hong Kong, Hong Kong.
authors.forename: John C W
authors.initials: JC
authors.lastname: Ho
authors.affiliation: Department of Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.
authors.forename: Eunyoung
authors.initials: E
authors.lastname: Kang
authors.affiliation: Department of Surgery, Division of Breast Surgical Oncology, Showa University School of Medicine, Tokyo, Japan.
authors.forename: Seigo
authors.initials: S
authors.lastname: Nakamura
authors.affiliation: Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Selangor, Malaysia Faculty of Medicine, University Malaya Cancer Research Institute, University Malaya, Subang Jaya, Malaysia.
authors.forename: Soo-Hwang
authors.initials: SH
authors.lastname: Teo
authors.affiliation: Division of Medical Sciences, National Cancer Centre, Singapore, Singapore Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore Office of Clinical & Academic Faculty Affairs, Duke-NUS Graduate Medical School, Singapore, Singapore.
authors.forename: Ann S G
authors.initials: AS
authors.lastname: Lee
authors.affiliation: Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
authors.forename: Jen-Hwei
authors.initials: JH
authors.lastname: Sng
authors.affiliation: Women's College Research Institute, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Ophira M
authors.initials: OM
authors.lastname: Ginsburg
authors.affiliation: Departments of Medicine (Oncology) and Genetics, Stanford University School of Medicine, Stanford, California, USA.
authors.forename: Allison W
authors.initials: AW
authors.lastname: Kurian
authors.affiliation: Division of Clinical Cancer Genetics, City of Hope National Medical Center, Duarte, California, USA.
authors.forename: Jeffrey N
authors.initials: JN
authors.lastname: Weitzel
authors.affiliation: Department of Surgery, The University of Hong Kong, Hong Kong, Hong Kong.
authors.forename: Man-Ting
authors.initials: MT
authors.lastname: Siu
authors.affiliation: Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong, Hong Kong Department of Molecular Pathology, Hong Kong Sanatorium & Hospital, Hong Kong, Hong Kong.
authors.forename: Fian B F
authors.initials: FB
authors.lastname: Law
authors.affiliation: Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong, Hong Kong Department of Molecular Pathology, Hong Kong Sanatorium & Hospital, Hong Kong, Hong Kong.
authors.forename: Tsun-Leung
authors.initials: TL
authors.lastname: Chan
authors.affiliation: Women's College Research Institute, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Steven A
authors.initials: SA
authors.lastname: Narod
authors.affiliation: Departments of Medicine (Oncology) and Genetics, Stanford University School of Medicine, Stanford, California, USA.
authors.forename: James M
authors.initials: JM
authors.lastname: Ford
authors.affiliation: Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong, Hong Kong Department of Molecular Pathology, Hong Kong Sanatorium & Hospital, Hong Kong, Hong Kong.
authors.forename: Edmond S K
authors.initials: ES
authors.lastname: Ma
authors.affiliation: Department of Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.
authors.forename: Sung-Won
authors.initials: SW
authors.lastname: Kim
mesh_terms: D001208:Asia / Q000453:epidemiology; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D009154:Mutation
keywords: Asians; BRCA1; BRCA2; Cancer: breast; Germline mutations