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LITERATURE CITED

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    Begg CB, Haile RW, Borg A, Malone KE, Concannon P, Thomas DC, Langholz B, Bernstein L, Olsen JH, Lynch CF, Anton-Culver H, Capanu M, Liang X, Hummer AJ, Sima C, Bernstein JL. 2008. Variation of breast cancer risk among BRCA1/2 carriers. JAMA 299: 194201.
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    Cao AY, Hu Z, Shao ZM. 2010. Mutation screening of breast cancer susceptibility genes in Chinese high-risk families: the results will develop the genetic testing strategy in China. Breast Cancer Res Treat 120: 271272.
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    Evans DG, Neuhausen SL, Bulman M, Young K, Gokhale D, Lalloo F. 2004. Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families. J Med Genet 41: e21.
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    Holstege H, Joosse SA, van Oostrom CT, Nederlof PM, de Vries A, Jonkers J. 2009. High incidence of protein-truncating TP53 mutations in BRCA1-related breast cancer. Cancer Res 69: 36253633.
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    Kang P, Mariapun S, Phuah SY, Lim LS, Liu J, Yoon SY, Thong MK, Mohd Taib NA, Yip CH, Teo SH. 2010. Large BRCA1 and BRCA2 genomic rearrangements in Malaysian high risk breast-ovarian cancer families. Breast Cancer Res Treat 124: 579584.
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    Klein B, Weirich G, Brauch H. 2001. DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations. Hum Genet 108: 376384.
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    Kwong A, Ng EK, Tang EY, Wong CL, Law FB, Leung CP, Chan A, Cheung MT, To MY, Ma ES, West DW, Ford JM. 2011. A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer. Fam Cancer 10: 233237.
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    Kwong A, Wong LP, Wong HN, Law FB, Ng EK, Tang YH, Chan WK, Ho LS, Kwan KH, Poon M, Wong TT, Leung FC, Chan SW, Ying MW, Ma ES, Ford JM. 2009a. A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer. Breast Cancer Res Treat 117: 683686.
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    Kwong A, Wong LP, Wong HN, Law FB, Ng EK, Tang YH, Chan WK, Suen DT, Choi C, Ho LS, Kwan KH, Poon M, Wong TT, Chan K, Chan SW, Ying MW, Chan WC, Ma ES, Ford JM, West DW. 2009b. Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer. Hugo J 3: 6376.
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    Lakhani SR, Van De Vijver MJ, Jacquemier J, Anderson TJ, Osin PP, McGuffog L, Easton DF. 2002. The pathology of familial breast cancer: predictive value of immunohistochemical markers ER, PR, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 20: 23102318.
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    Lei L, Wang XJ, Zheng ZG, Hunag J, Cao WM, Chen ZH, Shao XY, Cai JF, Ye WW, Lu HY. 2011. Identification of serum protein markers for breast cancer relapse with SELDI-TOF MS. Anat Rec (Hoboken) 294: 941944.
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    Li WF, Hu Z, Rao NY, Song CG, Zhang B, Cao MZ, Su FX, Wang YS, He PQ, Di GH, Shen KW, Wu J, Lu JS, Luo JM, Liu XY, Zhou J, Wang L, Zhao L, Liu YB, Yuan WT, Yang L, Shen ZZ, Huang W, Shao ZM. 2008. The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified. Breast Cancer Res Treat 110: 99109.
  • 20
    Lim YK, Lau PT, Ali AB, Lee SC, Wong JE, Putti TC, Sng JH. 2007. Identification of novel BRCA large genomic rearrangements in Singapore Asian breast and ovarian patients with cancer. Clin Genet 71: 331342.
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    Lin N, Zhang X, Cai Y, Xu X, Zhang L, Pan KF, Wu LY, Wang MR. 2006. BRCA1 germline mutations in Chinese patients with hereditary breast cancer and ovarian cancer. Int J Gynecol Cancer 16: 172178.
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    Mazoyer S. 2005. Genomic rearrangements in the BRCA1 and BRCA2. Hum Mutat 25: 415422.
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    Montagna M, Dalla Palma M, Menin C, Agata S, De Nicolo A, Chieco-Bianchi L, D'Andrea E. 2003. Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum Mol Genet 12: 10551061.
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    Nathanson KL, Wooster R, Weber BL. 2001. Breast cancer genetics: what we know and what we need. Nat med 7: 552556.
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    Ross JS, Slodkowska EA, Symmans WF, Pusztai L, Ravdin PM, Hortobagyi GN. 2009. The HER-2 receptor and breast cancer: ten years of targeted anti-HER-2 therapy and personalized medicine. Oncologist 14: 320368.
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    Saxena S, Chakraborty A, Kaushal M, Kotwal S, Bhatanager D, Mohil RS, Chintamani C, Aggarwal AK, Sharma VK, Sharma PC, Lenoir G, Goldgar DE, Szabo CI. 2006. Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India. BMC Med Genet 7: 75.
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    Suter NM, Ray RM, Hu YW, Lin MG, Porter P, Gao DL, Zaucha RE, Iwasaki LM, Sabacan LP, Langlois MC, Thomas DB, Ostrander EA. 2004. BRCA1 and BRCA2 mutations in women from Shanghai China. Cancer Epidemiol Biomarkers Prev 13: 181189.
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    Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A. 2008. Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Hum Mutat 29: 13421354.
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    Thirthagiri E, Lee SY, Kang P, Lee DS, Toh GT, Selamat S, Yoon SY, Taib NA, Thong MK, Yip CH, Teo SH. 2008. Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian county (Malaysia) with a relatively low incidence of breast cancer. Breast Cancer Res 10: R59.
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    Wolff AC, Hammond ME, Schwartz JN, Hagerty KL, Allred DC, Cote RJ, Dowsett M, Fitzgibbons PL, Hanna WM, Langer A, McShane LM, Paik S, Pegram MD, Perez EA, Press MF, Rhodes A, Sturgeon C, Taube SE, Tubbs R, Vance GH, van de Vijver M, Wheeler TM, Hayes DF. American society of clinical oncology/college of American pathologists guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancer. Arch Pathol Lab Med 131: 1843.
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    Yap KP, Ang P, Lim IH, Ho GH, Lee AS. 2006. Detection of a novel Alu-mediated BRCA1 exon 13 duplication in Chinese breast cancer patients and implications for genetic testing. Clin Genet 70: 8082.
  • 32
    Zhang J, Pei R, Pang Z, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y. 2012. Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer. Breast Cancer Res Treat 132: 421428.