메뉴 건너뛰기




Volumn 15, Issue 6, 2013, Pages

Common breast cancer risk variants in the post-COGS era: A comprehensive review

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; BRIP1 PROTEIN; CHECKPOINT KINASE 2; ESTROGEN RECEPTOR; PALB2 PROTEIN; PROTEIN; PROTEIN P53; UNCLASSIFIED DRUG; BRCA1 PROTEIN, HUMAN; BRCA2 PROTEIN, HUMAN;

EID: 84890625250     PISSN: 14655411     EISSN: 1465542X     Source Type: Journal    
DOI: 10.1186/bcr3591     Document Type: Review
Times cited : (47)

References (109)
  • 3
    • 56249103144 scopus 로고    scopus 로고
    • Inherited susceptibility to common cancers
    • 10.1056/NEJMra0802968, 19005198
    • Foulkes WD. Inherited susceptibility to common cancers. N Engl J Med 2008, 359:2143-2153. 10.1056/NEJMra0802968, 19005198.
    • (2008) N Engl J Med , vol.359 , pp. 2143-2153
    • Foulkes, W.D.1
  • 4
    • 0036578764 scopus 로고    scopus 로고
    • Polygenic susceptibility to breast cancer and implications for prevention
    • 10.1038/ng853, 11984562
    • Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF, Ponder BA. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 2002, 31:33-36. 10.1038/ng853, 11984562.
    • (2002) Nat Genet , vol.31 , pp. 33-36
    • Pharoah, P.D.1    Antoniou, A.2    Bobrow, M.3    Zimmern, R.L.4    Easton, D.F.5    Ponder, B.A.6
  • 5
    • 33749023326 scopus 로고    scopus 로고
    • The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability
    • 10.1038/sj.onc.1209874, 16998501
    • Gudmundsdottir K, Ashworth A. The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability. Oncogene 2006, 25:5864-5874. 10.1038/sj.onc.1209874, 16998501.
    • (2006) Oncogene , vol.25 , pp. 5864-5874
    • Gudmundsdottir, K.1    Ashworth, A.2
  • 6
    • 77953952646 scopus 로고    scopus 로고
    • BRCA1 and BRCA2: breast/ovarian cancer susceptibility gene products and participants in DNA double-strand break repair
    • 10.1093/carcin/bgq069, 20400477
    • O'Donovan PJ, Livingston DM. BRCA1 and BRCA2: breast/ovarian cancer susceptibility gene products and participants in DNA double-strand break repair. Carcinogenesis 2010, 31:961-967. 10.1093/carcin/bgq069, 20400477.
    • (2010) Carcinogenesis , vol.31 , pp. 961-967
    • O'Donovan, P.J.1    Livingston, D.M.2
  • 7
    • 84865688579 scopus 로고    scopus 로고
    • Cancer treatment according to BRCA1 and BRCA2 mutations
    • 10.1038/nrclinonc.2012.123, 22825375
    • Maxwell KN, Domchek SM. Cancer treatment according to BRCA1 and BRCA2 mutations. Nat Rev Clin Oncol 2012, 9:520-528. 10.1038/nrclinonc.2012.123, 22825375.
    • (2012) Nat Rev Clin Oncol , vol.9 , pp. 520-528
    • Maxwell, K.N.1    Domchek, S.M.2
  • 11
    • 0033740880 scopus 로고    scopus 로고
    • Anglian Breast Cancer Study Group
    • 2408797, 11044354, Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases
    • Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases Anglian Breast Cancer Study Group. Br J Cancer 2000, 83:1301-1308. 2408797, 11044354, Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases.
    • (2000) Br J Cancer , vol.83 , pp. 1301-1308
  • 13
    • 70349705753 scopus 로고    scopus 로고
    • High frequency of de novo mutations in Li-Fraumeni syndrome
    • 10.1136/jmg.2008.058958, 19556618
    • Gonzalez KD, Buzin CH, Noltner KA, Gu D, Li W, Malkin D, Sommer SS. High frequency of de novo mutations in Li-Fraumeni syndrome. J Med Genet 2009, 46:689-693. 10.1136/jmg.2008.058958, 19556618.
    • (2009) J Med Genet , vol.46 , pp. 689-693
    • Gonzalez, K.D.1    Buzin, C.H.2    Noltner, K.A.3    Gu, D.4    Li, W.5    Malkin, D.6    Sommer, S.S.7
  • 14
    • 0345269984 scopus 로고    scopus 로고
    • Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk
    • 10.1086/374567, 1180359, 12610779
    • Hwang SJ, Lozano G, Amos CI, Strong LC. Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. Am J Hum Genet 2003, 72:975-983. 10.1086/374567, 1180359, 12610779.
    • (2003) Am J Hum Genet , vol.72 , pp. 975-983
    • Hwang, S.J.1    Lozano, G.2    Amos, C.I.3    Strong, L.C.4
  • 16
    • 0031975070 scopus 로고    scopus 로고
    • Clinical and pathological features of breast disease in Cowden's syndrome: an underrecognized syndrome with an increased risk of breast cancer
    • 10.1016/S0046-8177(98)90389-6, 9445133
    • Schrager CA, Schneider D, Gruener AC, Tsou HC, Peacocke M. Clinical and pathological features of breast disease in Cowden's syndrome: an underrecognized syndrome with an increased risk of breast cancer. Hum Pathol 1998, 29:47-53. 10.1016/S0046-8177(98)90389-6, 9445133.
    • (1998) Hum Pathol , vol.29 , pp. 47-53
    • Schrager, C.A.1    Schneider, D.2    Gruener, A.C.3    Tsou, H.C.4    Peacocke, M.5
  • 17
    • 0032756367 scopus 로고    scopus 로고
    • Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer
    • 10.1002/(SICI)1098-2264(199912)26:4<286::AID-GCC2>3.0.CO;2-X, 10534763
    • Izatt L, Greenman J, Hodgson S, Ellis D, Watts S, Scott G, Jacobs C, Liebmann R, Zvelebil MJ, Mathew C, Solomon E. Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer. Genes Chromosomes Cancer 1999, 26:286-294. 10.1002/(SICI)1098-2264(199912)26:4<286::AID-GCC2>3.0.CO;2-X, 10534763.
    • (1999) Genes Chromosomes Cancer , vol.26 , pp. 286-294
    • Izatt, L.1    Greenman, J.2    Hodgson, S.3    Ellis, D.4    Watts, S.5    Scott, G.6    Jacobs, C.7    Liebmann, R.8    Zvelebil, M.J.9    Mathew, C.10    Solomon, E.11
  • 21
    • 4444272418 scopus 로고    scopus 로고
    • The search for low-penetrance cancer susceptibility alleles
    • 10.1038/sj.onc.1207951, 15322517
    • Houlston RS, Peto J. The search for low-penetrance cancer susceptibility alleles. Oncogene 2004, 23:6471-6476. 10.1038/sj.onc.1207951, 15322517.
    • (2004) Oncogene , vol.23 , pp. 6471-6476
    • Houlston, R.S.1    Peto, J.2
  • 23
    • 33749571327 scopus 로고    scopus 로고
    • Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium
    • Breast Cancer Association Consortium
    • Breast Cancer Association Consortium Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium. J Natl Cancer Inst 2006, 98:1382-1396. Breast Cancer Association Consortium.
    • (2006) J Natl Cancer Inst , vol.98 , pp. 1382-1396
  • 43
    • 74849111102 scopus 로고    scopus 로고
    • Association of two CASP8 polymorphisms with breast cancer risk: a meta-analysis
    • 10.1007/s10549-009-0471-5, 19629679
    • Sergentanis TN, Economopoulos KP. Association of two CASP8 polymorphisms with breast cancer risk: a meta-analysis. Breast Cancer Res Treat 2010, 120:229-234. 10.1007/s10549-009-0471-5, 19629679.
    • (2010) Breast Cancer Res Treat , vol.120 , pp. 229-234
    • Sergentanis, T.N.1    Economopoulos, K.P.2
  • 46
    • 77954971172 scopus 로고    scopus 로고
    • Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci
    • 10.1001/jama.2010.1042, 20664043
    • Reeves GK, Travis RC, Green J, Bull D, Tipper S, Baker K, Beral V, Peto R, Bell J, Zelenika D, Lathrop M. Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci. JAMA 2010, 304:426-434. 10.1001/jama.2010.1042, 20664043.
    • (2010) JAMA , vol.304 , pp. 426-434
    • Reeves, G.K.1    Travis, R.C.2    Green, J.3    Bull, D.4    Tipper, S.5    Baker, K.6    Beral, V.7    Peto, R.8    Bell, J.9    Zelenika, D.10    Lathrop, M.11
  • 49
    • 80052614851 scopus 로고    scopus 로고
    • Replication of five GWAS-identified loci and breast cancer risk among Hispanic and non-Hispanic white women living in the Southwestern United States
    • 10.1007/s10549-011-1498-y, 3152602, 21475998
    • Slattery ML, Baumgartner KB, Giuliano AR, Byers T, Herrick JS, Wolff RK. Replication of five GWAS-identified loci and breast cancer risk among Hispanic and non-Hispanic white women living in the Southwestern United States. Breast Cancer Res Treat 2011, 129:531-539. 10.1007/s10549-011-1498-y, 3152602, 21475998.
    • (2011) Breast Cancer Res Treat , vol.129 , pp. 531-539
    • Slattery, M.L.1    Baumgartner, K.B.2    Giuliano, A.R.3    Byers, T.4    Herrick, J.S.5    Wolff, R.K.6
  • 52
    • 84878766550 scopus 로고    scopus 로고
    • The SLC4A7 variant rs4973768 is associated with breast cancer risk: evidence from a case-control study and a meta-analysis
    • 10.1007/s10549-012-2309-9, 23117855
    • Chen W, Zhong R, Ming J, Zou L, Zhu B, Lu X, Ke J, Zhang Y, Liu L, Miao X, Huang T. The SLC4A7 variant rs4973768 is associated with breast cancer risk: evidence from a case-control study and a meta-analysis. Breast Cancer Res Treat 2012, 136:847-857. 10.1007/s10549-012-2309-9, 23117855.
    • (2012) Breast Cancer Res Treat , vol.136 , pp. 847-857
    • Chen, W.1    Zhong, R.2    Ming, J.3    Zou, L.4    Zhu, B.5    Lu, X.6    Ke, J.7    Zhang, Y.8    Liu, L.9    Miao, X.10    Huang, T.11
  • 61
    • 79958739216 scopus 로고    scopus 로고
    • Association between mitogen-activated protein kinase kinase kinase 1 rs889312 polymorphism and breast cancer risk: evidence from 59,977 subjects
    • 10.1007/s10549-010-1151-1, 20809358
    • Lu PH, Yang J, Li C, Wei MX, Shen W, Shi LP, Jiang ZY, Zhou N, Tao GQ. Association between mitogen-activated protein kinase kinase kinase 1 rs889312 polymorphism and breast cancer risk: evidence from 59,977 subjects. Breast Cancer Res Treat 2011, 126:663-670. 10.1007/s10549-010-1151-1, 20809358.
    • (2011) Breast Cancer Res Treat , vol.126 , pp. 663-670
    • Lu, P.H.1    Yang, J.2    Li, C.3    Wei, M.X.4    Shen, W.5    Shi, L.P.6    Jiang, Z.Y.7    Zhou, N.8    Tao, G.Q.9
  • 83
    • 79958240319 scopus 로고    scopus 로고
    • Association of a LSP1 gene rs3817198T > C polymorphism with breast cancer risk: evidence from 33,920 cases and 35,671 controls
    • 10.1007/s11033-010-0603-3, 21127985
    • Chen MB, Li C, Shen WX, Guo YJ, Shen W, Lu PH. Association of a LSP1 gene rs3817198T > C polymorphism with breast cancer risk: evidence from 33,920 cases and 35,671 controls. Mol Biol Rep 2011, 38:4687-4695. 10.1007/s11033-010-0603-3, 21127985.
    • (2011) Mol Biol Rep , vol.38 , pp. 4687-4695
    • Chen, M.B.1    Li, C.2    Shen, W.X.3    Guo, Y.J.4    Shen, W.5    Lu, P.H.6
  • 86
    • 35748974205 scopus 로고    scopus 로고
    • A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study
    • 10.1186/1471-2350-8-S1-S6, 1995609, 17903305
    • Murabito JM, Rosenberg CL, Finger D, Kreger BE, Levy D, Splansky GL, Antman K, Hwang SJ. A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study. BMC Med Genet 2007, 8(Suppl 1):S6. 10.1186/1471-2350-8-S1-S6, 1995609, 17903305.
    • (2007) BMC Med Genet , vol.8 , Issue.SUPPL 1
    • Murabito, J.M.1    Rosenberg, C.L.2    Finger, D.3    Kreger, B.E.4    Levy, D.5    Splansky, G.L.6    Antman, K.7    Hwang, S.J.8
  • 87
    • 84866171188 scopus 로고    scopus 로고
    • Association of STXBP4/COX11 rs6504950 (G > A) polymorphism with breast cancer risk: evidence from 17,960 cases and 22,713 controls
    • 10.1016/j.arcmed.2012.07.008, 22863968
    • Tang L, Xu J, Wei F, Wang L, Nie WW, Chen LB, Guan XX. Association of STXBP4/COX11 rs6504950 (G > A) polymorphism with breast cancer risk: evidence from 17,960 cases and 22,713 controls. Arch Med Res 2012, 43:383-388. 10.1016/j.arcmed.2012.07.008, 22863968.
    • (2012) Arch Med Res , vol.43 , pp. 383-388
    • Tang, L.1    Xu, J.2    Wei, F.3    Wang, L.4    Nie, W.W.5    Chen, L.B.6    Guan, X.X.7
  • 91
    • 67649668769 scopus 로고    scopus 로고
    • Value of adding single-nucleotide polymorphism genotypes to a breast cancer risk model
    • 10.1093/jnci/djp130, 2704229, 19535781
    • Gail MH. Value of adding single-nucleotide polymorphism genotypes to a breast cancer risk model. J Natl Cancer Inst 2009, 101:959-963. 10.1093/jnci/djp130, 2704229, 19535781.
    • (2009) J Natl Cancer Inst , vol.101 , pp. 959-963
    • Gail, M.H.1
  • 93
    • 65549132756 scopus 로고    scopus 로고
    • Breast cancer before age 40 years
    • 10.1053/j.seminoncol.2009.03.001, 2894028, 19460581
    • Anders CK, Johnson R, Litton J, Phillips M, Bleyer A. Breast cancer before age 40 years. Semin Oncol 2009, 36:237-249. 10.1053/j.seminoncol.2009.03.001, 2894028, 19460581.
    • (2009) Semin Oncol , vol.36 , pp. 237-249
    • Anders, C.K.1    Johnson, R.2    Litton, J.3    Phillips, M.4    Bleyer, A.5
  • 94
    • 51349102645 scopus 로고    scopus 로고
    • Impact of triple negative phenotype on breast cancer prognosis
    • 10.1111/j.1524-4741.2008.00622.x, 18657139
    • Kaplan HG, Malmgren JA. Impact of triple negative phenotype on breast cancer prognosis. Breast J 2008, 14:456-463. 10.1111/j.1524-4741.2008.00622.x, 18657139.
    • (2008) Breast J , vol.14 , pp. 456-463
    • Kaplan, H.G.1    Malmgren, J.A.2
  • 101
    • 34248170114 scopus 로고    scopus 로고
    • Meta-analysis of BRCA1 and BRCA2 penetrance
    • 10.1200/JCO.2006.09.1066, 2267287, 17416853
    • Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 2007, 25:1329-1333. 10.1200/JCO.2006.09.1066, 2267287, 17416853.
    • (2007) J Clin Oncol , vol.25 , pp. 1329-1333
    • Chen, S.1    Parmigiani, G.2
  • 102
    • 34250164598 scopus 로고    scopus 로고
    • An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)
    • 10.1186/bcr1670, 1868919, 17466083
    • Chenevix-Trench G, Milne RL, Antoniou AC, Couch FJ, Easton DF, Goldgar DE. An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA). Breast Cancer Res 2007, 9:104. 10.1186/bcr1670, 1868919, 17466083.
    • (2007) Breast Cancer Res , vol.9 , pp. 104
    • Chenevix-Trench, G.1    Milne, R.L.2    Antoniou, A.C.3    Couch, F.J.4    Easton, D.F.5    Goldgar, D.E.6
  • 104
    • 84880727778 scopus 로고    scopus 로고
    • Genetic variants in TERT-CLPTM1L genetic region associated with several types of cancer: a meta-analysis
    • 10.1016/j.gene.2013.05.003, 23707794
    • Li C, Yin Z, Wu W, Li X, Zhou B. Genetic variants in TERT-CLPTM1L genetic region associated with several types of cancer: a meta-analysis. Gene 2013, 526:390-399. 10.1016/j.gene.2013.05.003, 23707794.
    • (2013) Gene , vol.526 , pp. 390-399
    • Li, C.1    Yin, Z.2    Wu, W.3    Li, X.4    Zhou, B.5
  • 105
    • 0033568691 scopus 로고    scopus 로고
    • Validation studies for models projecting the risk of invasive and total breast cancer incidence
    • 10.1093/jnci/91.18.1541, 10491430
    • Costantino JP, Gail MH, Pee D, Anderson S, Redmond CK, Benichou J, Wieand HS. Validation studies for models projecting the risk of invasive and total breast cancer incidence. J Natl Cancer Inst 1999, 91:1541-1548. 10.1093/jnci/91.18.1541, 10491430.
    • (1999) J Natl Cancer Inst , vol.91 , pp. 1541-1548
    • Costantino, J.P.1    Gail, M.H.2    Pee, D.3    Anderson, S.4    Redmond, C.K.5    Benichou, J.6    Wieand, H.S.7
  • 106
    • 0024801278 scopus 로고
    • Projecting individualized probabilities of developing breast cancer for white females who are being examined annually
    • 10.1093/jnci/81.24.1879, 2593165
    • Gail MH, Brinton LA, Byar DP, Corle DK, Green SB, Schairer C, Mulvihill JJ. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst 1989, 81:1879-1886. 10.1093/jnci/81.24.1879, 2593165.
    • (1989) J Natl Cancer Inst , vol.81 , pp. 1879-1886
    • Gail, M.H.1    Brinton, L.A.2    Byar, D.P.3    Corle, D.K.4    Green, S.B.5    Schairer, C.6    Mulvihill, J.J.7
  • 108
    • 79959717889 scopus 로고    scopus 로고
    • Projecting individualized absolute invasive breast cancer risk in Asian and Pacific Islander American women
    • 10.1093/jnci/djr154, 3119648, 21562243
    • Matsuno RK, Costantino JP, Ziegler RG, Anderson GL, Li H, Pee D, Gail MH. Projecting individualized absolute invasive breast cancer risk in Asian and Pacific Islander American women. J Natl Cancer Inst 2011, 103:951-961. 10.1093/jnci/djr154, 3119648, 21562243.
    • (2011) J Natl Cancer Inst , vol.103 , pp. 951-961
    • Matsuno, R.K.1    Costantino, J.P.2    Ziegler, R.G.3    Anderson, G.L.4    Li, H.5    Pee, D.6    Gail, M.H.7
  • 109
    • 47649099448 scopus 로고    scopus 로고
    • Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk
    • 10.1093/jnci/djn180, 2528005,2528005, 18612136
    • Gail MH. Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk. J Natl Cancer Inst 2008, 100:1037-1041. 10.1093/jnci/djn180, 2528005,2528005, 18612136.
    • (2008) J Natl Cancer Inst , vol.100 , pp. 1037-1041
    • Gail, M.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.