Hereditary breast cancer in the Han Chinese population

Journal of Epidemiology

Volumn 23, Issue 2, 2013, Pages 75-84

  Cao, Wenming ^a,b   Wang, Xiaojia ^b   Li, Ji Cheng ^a  

^a ZHEJIANG UNIVERSITY   (China)

^b ZHEJIANG CANCER HOSPITAL   (China)

Author keywords

Breast cancer susceptibility; Chinese; Hereditary breast cancer; High penetrance genes; Moderate penetrance genes

Indexed keywords

ASIAN; BREAST TUMOR; CHINA; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; REVIEW; TUMOR SUPPRESSOR GENE;

ASIAN CONTINENTAL ANCESTRY GROUP; BREAST NEOPLASMS; CHINA; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; HUMANS;

MLCS; MLOWN;

EID: 84876448479     PISSN: 09175040     EISSN: 13499092     Source Type: Journal    
DOI: 10.2188/jea.JE20120043     Document Type: Review

References (89)

1. Ripperger T, Gadzicki D, Meindl A, Schlegelberger B. Breast cancer susceptibility: current knowledge and implications for genetic counseling. Eur J Hum Genet. 2009;17:722-31.
2. Breast Cancer Association Consortium. Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium. J Natl Cancer Inst. 2006;98:1382-96.
3. Chen XH, Li XQ, Chen Y, Feng YM. Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and FGFR2 rs1219648 G allele in North China. Breast Cancer Res Treat. 2011;125:575-82.
4. Zheng W, Wen W, Gao YT, Shyr Y, Zheng Y, Long J, et al. Genetic and clinical predictors for breast cancer risk assessment and stratification among Chinese women. J Natl Cancer Inst. 2010;102:972-81.
5. Wooster R, Weber BL. Breast and ovarian cancer. N Engl J Med. 2003;348:2339-47.
6. Levy-Lahad E, Friedman E. Cancer risks among BRCA1 and BRCA2 mutation carriers. Br J Cancer. 2007;96:11-5.
7. Li SS, Tseng HM, Yang TP, Liu CH, Teng SJ, Huang HW, et al. Molecular charaterization of germline mutations in BRCA1 and BRCA2 genes form breast cancer families in Taiwan. Hum Genet. 1999;104:201-4.
8. Sng JH, Chang J, Feroze F, Rahman N, Tan W, Lim S, et al. The prevalence of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives. Br J Cancer. 2000;82: 538-42.
9. Zhi X, Szabo C, Chopin S, Suter N, Wang QS, Ostrander EA, et al. BRCA1 and BRCA2 sequence variants in Chinese breast cancer families. Hum Mutat. 2002;20:474.
10. Deng S, Wang Y, Ke Y, Xu G. Analysis of the mutations of BRCA1 in 9 familiar breast cancer patients. Beijing Da Xue Xue Bao. 2003;35:373-6 (in Chinese).
11. Suter NM, Ray RM, Hu YW, Lin MG, Porter P, Gao DL, et al. BRCA1 and BRCA2 mutations in women from Shanghai China. Cancer Epidemiol Biomarkers Prev. 2004;13:181-9.
12. Zhou YZ, Sun Q, Lin SQ, Wang J, Liu B, Li JX, et al. Germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in China Han people. Zhonghua Yi Xue Za Zhi. 2004;84:294-8 (in Chinese).
13. Li N, Zhang X, Cai Y, Xu X, Zhang L, Pan KF, et al. BRCA1 germline mutations in Chinese patients with hereditary breast cancer and ovarian cancer. Int J Gynecol Cancer. 2006;16 Suppl 1:172-8.
14. Huang J, Tang LL, Hu Z, Xia T, Rao NY, Shao ZM. BRCA1 and BRCA2 gene mutations of familial breast cancer and earlyonset breast cancer from Hunan province in China. Zhongguo Ai Zheng Za Zhi. 2008;18:566-72 (in Chinese).
15. Thirthagiri E, Lee SY, Kang P, Lee DS, Toh GT, Selamat S, et al. Evaluation of BRCA1 and BRCA2 mutations and riskprediction models in a typical Asian county (Malaysia) with a relatively low incidence of breast cancer. Breast Cancer Res. 2008;10:R59.
16. Li WF, Hu Z, Rao NY, Song CG, Zhang B, Cao MZ, et al. The prevalence of BRCA1 and BRCA2 germline mutations in highrisk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified. Breast Cancer Res Treat. 2008;110:99-109.
17. Chen W, Pan K, Ouyang T, Li J, Wang T, Fan Z, et al. BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer. Breast Cancer Res Treat. 2009;117:55-60.
18. Zhou J, Rao NY, Li SR, Jin L, Jia WJ, Gong C, et al. Analysis of BRCA1 gene mutations in patients with early-onset breast cancer and their affected relatives in Guangdong province. Nan Fang Yi Ke Da Xue Xue Bao. 2009;29:213-6 (in Chinese).
19. Kwong A, Wong LP, Wong HN, Law FB, Ng EK, Tang YH, et al. A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer. Breast Cancer Res Treat. 2009;117:683-6.
20. Xue WN, Wang JS, Song YN, Chuan HE, Zhang YX, Pang D. BRCA1 gene mutations analysis of familial breast cancer and early-onset breast cancer. Shi Yong Zhong Liu Xue Za Zhi. 2010;24:408-12 (in Chinese).
21. Chen LF, Geng CZ, Wang GL, Li JG. BRCA1/BRCA2 gene mutations of familial and sporadic breast cancer from Hebei Province in China. Clin J Breast Dis (Electronic Edition). 2010;4:418-26 (in Chinese).
22. Ma ZL, Cao MZ, Li WF. Analysis of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008;25:195-8 (in Chinese).
23. Zhang J, Pei R, Pang Z, Ouyang T, Li J, Wang T, et al. Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer. Breast Cancer Res Treat. 2012;132:421-8.
24. Klein B, Weirich G, Brauch H. DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations. Hum Genet. 2001;108:376-84.
25. Kwong A, Wong LP, Chan KY, Ma ES, Khoo US, Ford JM. Characterization of the pathogenic mechanism of a novel BRCA2 variant in a Chinese family. Fam Cancer. 2008;7: 125-33.
26. Hall MJ, Reid JE, Burbidge LA, Pruss D, Deffenbaugh AM, Frye C, et al. BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breastovarian cancer. Cancer. 2009;115:2222-33.
27. Metcalfe KA, Poll A, Royer R, Llacuachaqui M, Tulman A, Sun P, et al. Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women. J Clin Oncol. 2010;28:387-91.
28. Mikaelsdottir EK, Valgeirsdottir S, Eyfjord JE, Rafnar T. The Icelandic founder mutation BRCA2 999del5: analysis of expression. Breast Cancer Res. 2004;6:R284-90.
29. Vega A, Campos B, Bressac-De-Paillerets B, Bond PM, Janin N, Douglas FS, et al. The R71G BRCA1is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat. 2001;17:520-1.
30. Torres D, Rashid MU, Gil F, Umana A, Ramelli G, Robledo JF, et al. High proportion of BRCA1/BRCA2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. Breast Cancer Res Treat. 2007;103:225-32.
31. Evans DG, Neuhausen SL, Bulman M, Young K, Gokhale D, Lalloo F. 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. 2004;41(2):e21.
32. Ikeda N, Miyoshi Y, Yoneda K, Shiba E, Sekihara Y, Kinoshita M, et al. Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. Int J Cancer. 2001;91:83-8.
33. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Linkage Consortium. Am J Hum Genet. 1998;62:676-89.
34. Mazoyer S. Genomic rearrangements in the BRCA1 and BRCA2. Hum Mutat. 2005;25:415-22.
35. Yap KP, Ang P, Lim IH, Ho GH, Lee AS. Detection of a novel Alu-mediated BRCA1 exon 13 duplication in Chinese breast cancer patients and implications for genetic testing. Clin Genet. 2006;70:80-2.
36. Lim YK, Lau PT, Ali AB, Lee SC, Wong JE, Putti TC, et al. Identification of novel BRCA large genomic rearrangements in Singapore Asian breast and ovarian patients with cancer. Clin Genet. 2007;71:331-42.
37. Kwong A, Ng EK, Tang EY, Wong CL, Law FB, Leung CP, et al. A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer. Fam Cancer. 2011;10:233-7.
38. Kang P, Mariapun S, Phuah SY, Lim LS, Liu J, Yoon SY, et al. Large BRCA1 and BRCA2 genomic rearrangements in Malaysian high risk breast-ovarian cancer families. Breast Cancer Res Treat. 2010;124:579-84.
39. Wang J, Lu C, Min D, Wang Z, Ma X. A Mutation in the 5′ Untranslated region of the BRCA1 gene in sporadic breast cancer causes downregulation of translation efficiency. J Int Med Res. 2007;35:564-73.
40. Chen Y, Jin W, Huang J, Ma ZL, Zhou J, Shao ZM. BRCA2 promoter mutations in familial or early-onset breast caner of Chinese Han nationality. Zhongguo Ai Zheng Za Zhi. 2009;19:724-6 (in Chinese).
41. Chan KY, Liu W, Long JR, Yip SP, Chan SY, Shu XO, et al. Functional polymorphisms in the promoter of BRCA1 influences transcription and are associated with decreased risk of breast cancer in Chinese women. J Med Genet. 2009;46:32-9.
42. Verderio P, Pizzamiglio S, Southey MC, Spurdle AB, Hopper JL, Chen X, et al. A BRCA1 promoter variant (rs11655505) and breast cancer risk. J Med Genet. 2010;47:268-70.
43. Euhus D. Risk modeling in breast cancer. Breast J. 2004;10 Suppl 1:S10-2.
44. Antoniou AC, Cunningham AP, Peto J, Evans DG, Lalloo F, Narod SA, et al. The BOADICEA model of genetic susceptibility to breast cancer and ovarian cancer: updates and extensions. Br J Cancer. 2008;98:1457-66.
45. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol. 2002;20:1480-90.
46. Capalbo C, Ricevuto E, Vestri A, Ristori E, Sidoni T, Buffone O, et al. BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models. Ann Oncol. 2006;17 Suppl 7:vii34-40.
47. Rao NY, Hu Z, Yu JM, Li WF, Zhang B, Su FX, et al. Evaluating the performance of models for predicting the BRCA germline mutations in Han Chinese familial breast cancer patients. Breast Cancer Res Treat. 2009;116:563-70.
48. Kurian AW, Gong GD, Chun NM, Mills MA, Staton AD, Kingham KE, et al. Performance of BRCA1/2 mutation prediction models in Asian Americans. J Clin Oncol. 2008;26: 4752-8.
49. Chen S, Blackford AL, Parmigiani G. Tailoring BRCAPRO to Asian-Americans. J Clin Oncol. 2009;27:642-3.
50. Rao NY, Hu Z, Li WF, Huang J, Ma ZL, Zhang B, et al. Models for predicting BRCA1 and BRCA2 mutations in Han Chinese familial breast cancer and/or ovarian cancer patients. Breast Cancer Res Treat. 2009;113:467-77.
51. Hu Z, Li WF, Liu XY, Zhang B, Cao MZ, Wang YS, et al. Comparative study of BRCA1-associated breast caner and sporadic breast cancer in Chinese patients. Zhonghua Wai Ke Za Zhi. 2007;45:489-90 (in Chinese).
52. Kwong A, Wong LP, Wong HN, Law FB, Ng EK, Tang YH, et al. Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer. Hugo J. 2009;3:63-76.
53. Holstege H, Joosse SA, van Oostrom CT, Nederlof PM, de Vries A, Jonkers J. High incidence of protein-truncating TP53 mutations in BRCA1-related breast cancer. Cancer Res. 2009; 69:3625-33.
54. Vogelstein B, Lane D, Levine AJ. Surfing the p53 network. Nature. 2000;408:307-10.
55. Birch JM, Blair V, Kelsey AM, Evans DG, Harris M, Tricker KJ, et al. Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. Oncogene. 1998;17:1061-8.
56. Lustbader ED, Williams WR, Bondy ML, Strom S, Strong LC. Segregation analysis of cancer in families of childhood softtissue-sarcoma patients. Am J Hum Genet. 1992;51:344-56.
57. Hisada M, Garber JE, Fung CY, Fraumeni JF Jr, Li FP. Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst. 1998;90:606-11.
58. Cao AY, Jin W, Shi PC, Di GH, Shen ZZ, Shao ZM. Identification and characterization of two novel germ line p53 mutations in the non-LFS/non-LFL breast cancer families in Chinese population. Breast Cancer Res Treat. 2010;119: 295-303.
59. Cantor SB, Bell DW, Ganesan S, Kass EM, Drapkin R, Grossman S, et al. BACH1, A novel helicase-like protein, interacts directly with BRCA1 and contributes to DNA repair function. Cell. 2001;105:149-60.
60. Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet. 2006;38:1239-41.
61. Cao AY, Huang J, Hu Z, Li WF, Ma ZL, Tang LL, et al. Mutation analysis of BRIP1/BACH1 in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives. Breast Cancer Res Treat. 2009;115:51-5.
62. Huo X, Lu C, Huang X, Hu Z, Jin G, Ma H, et al. Polymorphisms in BRCA1, BRCA1-interacting genes and susceptibility of breast cancer in Chinese women. J Cancer Res Clin Oncol. 2009;135:1569-75.
63. Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007;39:165-7.
64. Cao AY, Huang J, Hu Z, Li WF, Ma ZL, Tang LL, et al. The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives. Breast Cancer Res Treat. 2009;114:457-62.
65. Chen P, Liang J, Wang Z, Zhou X, Chen L, Li M, et al. Association of common PALB2 polymorphisms with breast cancer risk: a case-control study. Clin Cancer Res. 2008;14: 5931-7.
66. Cao AY, Yu KD, Yin WJ, Jin W, Di GH, Shen ZZ, et al. Five common single nucleotide polymorphisms in the PALB2 gene and susceptibility to breast cancer in eastern Chinese population. Breast Cancer Res Treat. 2010;123:133-8.
67. Schrader KA, Masciari S, Boyd N, Wiyrick S, Kaurah P, Senz J, et al. Hereditary diffuse gastric cancer: association with lobular breast cancer. Fam Cancer. 2008;7:73-82.
68. Masciari S, Larsson N, Senz J, Boyd N, Kaurah P, Kandel MJ, et al. Germline E-cadherin mutations in familial lobular breast cancer. J Med Genet. 2007;44:726-31.
69. Zhu ZG, Yu YY, Zhang Y, Ji J, Zhang J, Liu BY, et al. Germline mutational analysis of CDH1 and pathologic features in familial cancer syndrome with diffuse gastric cancer/breast cancer proband in a Chinese family. Eur J Surg Oncol. 2004;30:531-5.
70. Nevanlinna H, Bartek J. The CHEK2 gene and inherited breast cancer susceptibility. Oncogene. 2006;25:5912-9.
71. Weischer M, Bojesen SE, Ellervik C, Tybjaerg-Hansen A, Nordestgaard BG. CHEK2*1100delC genotyping for clinical assenssment of breast cancer risk: meta-analyses of 26,000 patient case and 27,000 controls. J Clin Oncol. 2008;26:542-8.
72. Chen W, Yurong S, Liansheng N. Breast cancer low-penetrance allele 1100delC in the CHEK2 gene: not present in the Chinese familial breast cancer population. Adv Ther. 2008;25:496-501.
73. Song CG, Hu Z, Yuan WT, Di GH, Shen ZZ, Huang W, et al. CHEK2 c.1100delC may not contribute to genetic background of hereditary breast cancer form Shanghai of China. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006;23:443-5.
74. Thirthagiri E, Cheong LS, Yip CH, Teo SH. CHEK2*1100delC does not contribute to risk to breast cancer among Malay, Chinese and Indians in Malaysia. Fam Cancer. 2009;8:355-8.
75. Liu Y, Liao J, Xu Y, Chen W, Liu D, Ouyang T, et al. A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women. Hum Mutat. 2011;32:999-1003.
76. Lee AS, Ang P. CHEK2*1100delC screening of Asian women with a family history of breast cancer is unwarranted. J Clin Oncol. 2008;26:2419; author reply 2419-20.
77. Li J, Yen C, Liaw D, Podsypanina K, Bose S, Wang SI, et al. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science. 1997;275: 1943-7.
78. Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet. 1996;13:114-6.
79. Orloff MS, Eng C. Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. Oncogene. 2008;27: 5387-97.
80. Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet. 2000;37:828-30.
81. Yang J, Ren Y, Wang L, Li B, Chen Y, Zhao W, et al. PTEN mutation spectrum in breast cancers and breast hyperplasis. J Cancer Res Clin Oncol. 2010;136:1303-11.
82. Angèle S, Hall J. The ATM gene and breast cancer: is it really a risk factor? Mutat Res. 2000;462:167-78.
83. Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet. 2006;38:873-5.
84. Ye C, Dai Q, Lu W, Cai Q, Zheng Y, Shu XO, et al. Two-stage case-control study of common ATM gene variants in relation to breast cancer risk. Breast Cancer Res Treat. 2007;106:121-6.
85. Wang K, Ye Y, Xu Z, Zhang X, Hou Z, Cui Y, et al. Interaction between BRCA1/BRCA2 and ATM/ATR associate with breast cancer susceptibility in a Chinese Han population. Cancer Genet Cytogenet. 2010;200:40-6.
86. Bogdanova N, Feshchenko S, Schürmann P, Waltes R, Wieland B, Hillemanns P, et al. Nijmegen breakage syndrome mutations and risk of breast cancer. Int J Cancer. 2008;122:802-6.
87. Roznowski K, Januszkiewicz-Lewandowska D, Mosor M, Pernak M, Litwiniuk M, Nowak J. I171V germline mutation in the NBS1 gene significantly increase risk of breast cancer. Breast Cancer Res Treat. 2008;110:343-8.
88. Heikkinen K, Rapakko K, Karppinen SM, Erkko H, Knuutila S, Lundán T, et al. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis. 2006;27:1593-9.
89. He M, Di GH, Cao AY, Hu Z, Jin W, Shen ZZ, et al. RAD50 and NBS1 are not likely to be susceptibility genes in Chinese non-BRCA1/2 hereditary breast cancer. Breast Cancer Res Treat. 2012;133:111-6.