Literature DB >> 26187060

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

Ava Kwong1, Vivian Y Shin2, John C W Ho3, Eunyoung Kang4, Seigo Nakamura5, Soo-Hwang Teo6, Ann S G Lee7, Jen-Hwei Sng8, Ophira M Ginsburg9, Allison W Kurian10, Jeffrey N Weitzel11, Man-Ting Siu2, Fian B F Law12, Tsun-Leung Chan12, Steven A Narod9, James M Ford10, Edmond S K Ma12, Sung-Won Kim4.   

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. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Entities:  

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

Mesh:

Year:  2015        PMID: 26187060      PMCID: PMC4681590          DOI: 10.1136/jmedgenet-2015-103132

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  85 in total

1.  Novel sequence variants and common recurrent polymorphisms of BRCA2 in Sri Lankan breast cancer patients and a family with BRCA1 mutations.

Authors:  Sumadee DE Silva; Kamani H Tennekoon; Eric H Karunanayake; Wasanthi DE Silva; Indrani Amarasinghe; Preethika Angunawela
Journal:  Exp Ther Med       Date:  2011-08-17       Impact factor: 2.447

2.  Novel germline BRCA1 mutations detected in women in singapore who developed breast carcinoma before the age of 36 years.

Authors:  G H Ho; B H Phang; I S Ng; H Y Law; K C Soo; E H Ng
Journal:  Cancer       Date:  2000-08-15       Impact factor: 6.860

3.  Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.

Authors:  D Ford; D F Easton; M Stratton; S Narod; D Goldgar; P Devilee; D T Bishop; B Weber; G Lenoir; J Chang-Claude; H Sobol; M D Teare; J Struewing; A Arason; S Scherneck; J Peto; T R Rebbeck; P Tonin; S Neuhausen; R Barkardottir; J Eyfjord; H Lynch; B A Ponder; S A Gayther; M Zelada-Hedman
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

4.  Germ line BRCA1 and BRCA2 gene mutations in Turkish breast cancer patients.

Authors:  H Ozdag; M Tez; I Sayek; M Müslümanoglu; O Tarcan; F Içli; M Oztürk; T Ozçelik
Journal:  Eur J Cancer       Date:  2000-10       Impact factor: 9.162

5.  Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel.

Authors:  Yael Laitman; Roni Tsipora Borsthein; Dominique Stoppa-Lyonnet; Efrat Dagan; Laurent Castera; Maud Goislard; Ruth Gershoni-Baruch; Hadassah Goldberg; Bella Kaufman; Noa Ben-Baruch; Jamal Zidan; Taiseer Maray; Lior Soussan-Gutman; Eitan Friedman
Journal:  Breast Cancer Res Treat       Date:  2010-10-20       Impact factor: 4.872

6.  Relative contributions of BRCA1 and BRCA2 mutations to "triple-negative" breast cancer in Ashkenazi Women.

Authors:  E Comen; M Davids; T Kirchhoff; C Hudis; K Offit; M Robson
Journal:  Breast Cancer Res Treat       Date:  2011-03-11       Impact factor: 4.872

7.  BRCA1 and BRCA2 mutations in women from Shanghai China.

Authors:  Nicola M Suter; Roberta M Ray; Yong Wei Hu; Ming Gang Lin; Peggy Porter; Dao Li Gao; Renata E Zaucha; Lori M Iwasaki; Leah P Sabacan; Mariela C Langlois; David B Thomas; Elaine A Ostrander
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2004-02       Impact factor: 4.254

8.  BRCA1 germline mutations in Indian familial breast cancer.

Authors:  Mani T Valarmathi; Agarwal A; Suryanarayana S V Deo; Nootan K Shukla; Satya N Das
Journal:  Hum Mutat       Date:  2003-01       Impact factor: 4.878

9.  Accuracy of the BRCAPRO model among women with bilateral breast cancer.

Authors:  Kaylene J Ready; Kristen J Vogel; Deann P Atchley; Kristine R Broglio; Kimberly K Solomon; Christopher Amos; Karen H Lu; Gabriel N Hortobagyi; Banu Arun
Journal:  Cancer       Date:  2009-02-15       Impact factor: 6.860

10.  BRCA1 and BRCA2 germline mutation analysis in the Indonesian population.

Authors:  Dewajani Purnomosari; Gerard Pals; Artanto Wahyono; Teguh Aryandono; Tjakra W Manuaba; Samuel J Haryono; Paul J van Diest
Journal:  Breast Cancer Res Treat       Date:  2007-02-15       Impact factor: 4.872

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  27 in total

1.  Baseline knowledge and receptiveness to genetic testing for hereditary breast and ovarian cancer syndromes in Chinese high-risk females.

Authors:  Annie Tsz-Wai Chu; Desiree Man-Sik Tse; Dacita To Ki Suen; Ava Kwong
Journal:  J Community Genet       Date:  2021-04-30

2.  Novel and reported pathogenic variants in exon 11 of BRCA2 gene in a cohort of Sri Lankan young breast cancer patients.

Authors:  Sumadee De Silva; Kamani Hemamala Tennekoon; Aravinda Dissanayake; Kanishka De Silva; Lakshika Jayasekara
Journal:  Fam Cancer       Date:  2017-07       Impact factor: 2.375

Review 3.  The role of genomics in global cancer prevention.

Authors:  Ophira Ginsburg; Paul Brennan; Patricia Ashton-Prolla; Anna Cantor; Daniela Mariosa
Journal:  Nat Rev Clin Oncol       Date:  2020-09-24       Impact factor: 66.675

4.  Mitochondrial common deletion is elevated in blood of breast cancer patients mediated by oxidative stress.

Authors:  Hezhongrong Nie; Guorong Chen; Jing He; Fengjiao Zhang; Ming Li; Qiufeng Wang; Huaibin Zhou; Jianxin Lyu; Yidong Bai
Journal:  Mitochondrion       Date:  2015-12-08       Impact factor: 4.160

5.  Identification of recurrent BRCA1 mutation and its clinical relevance in Chinese Triple-negative breast cancer cohort.

Authors:  Xiaoran Liu; Huiping Li; Bin Shao; Jianmin Wu; Weiyao Kong; Guohong Song; Hanfang Jiang; Jing Wang; Fengling Wan
Journal:  Cancer Med       Date:  2017-01-30       Impact factor: 4.452

6.  Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Authors:  Yuya Kobayashi; Shan Yang; Keith Nykamp; John Garcia; Stephen E Lincoln; Scott E Topper
Journal:  Genome Med       Date:  2017-02-06       Impact factor: 11.117

7.  Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

Authors:  Yeong C Kim; Linli Zhao; Hanwen Zhang; Ye Huang; Jian Cui; Fengxia Xiao; Bradley Downs; San Ming Wang
Journal:  Oncotarget       Date:  2016-02-23

8.  Breast and ovarian cancer penetrance of BRCA1/2 mutations among Hong Kong women.

Authors:  LingJiao Zhang; Vivian Y Shin; Xinglei Chai; Alan Zhang; Tsun L Chan; Edmond S Ma; Timothy R Rebbeck; Jinbo Chen; Ava Kwong
Journal:  Oncotarget       Date:  2018-02-02

9.  Comparison of suspected Lynch syndrome patients carrying BRCA and BRCA-like variants with Lynch syndrome probands: Phenotypic characteristics and pedigree analyses.

Authors:  Yun Xu; Cong Li; Zhimin Wang; Fangqi Liu; Ye Xu
Journal:  Mol Genet Genomic Med       Date:  2020-06-16       Impact factor: 2.183

10.  Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia.

Authors:  Wei Xiong Wen; Jamie Allen; Kah Nyin Lai; Shivaani Mariapun; Siti Norhidayu Hasan; Pei Sze Ng; Daphne Shin-Chi Lee; Sheau Yee Lee; Sook-Yee Yoon; Joanna Lim; Shao Yan Lau; Brennan Decker; Karen Pooley; Leila Dorling; Craig Luccarini; Caroline Baynes; Don M Conroy; Patricia Harrington; Jacques Simard; Cheng Har Yip; Nur Aishah Mohd Taib; Weang Kee Ho; Antonis C Antoniou; Alison M Dunning; Douglas F Easton; Soo Hwang Teo
Journal:  J Med Genet       Date:  2017-10-09       Impact factor: 6.318

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