메뉴 건너뛰기




Volumn 372, Issue 23, 2015, Pages 2243-2257

Gene-panel sequencing and the prediction of breast-cancer risk

(17)  Easton, Douglas F a   Pharoah, Paul D P a   Antoniou, Antonis C a   Tischkowitz, Marc a   Tavtigian, Sean V d   Nathanson, Katherine L e   Devilee, Peter f   Meindl, Alfons g   Couch, Fergus J h   Southey, Melissa i   Goldgar, David E d   Evans, D Gareth R b   Chenevix Trench, Georgia j   Rahman, Nazneen c   Robson, Mark k   Domchek, Susan M e   Foulkes, William D l  


Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; CHECKPOINT KINASE 2; DNA GLYCOSYLASE MUTY; FANCONI ANEMIA GROUP C PROTEIN; MISMATCH REPAIR PROTEIN PMS2; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN KINASE LKB1; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; PROTEIN P53; RAD50 PROTEIN; UVOMORULIN;

EID: 84930531402     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMsr1501341     Document Type: Article
Times cited : (726)

References (75)
  • 1
    • 84930534510 scopus 로고    scopus 로고
    • Assoc. for Molecular Pathology v. Myriad Genetics, Inc. 569 U.S.
    • Assoc. for Molecular Pathology v. Myriad Genetics, Inc. 569 U.S. - (2013) (https://supreme.justia.com/cases/federal/us/569/12-398).
    • (2013)
  • 2
    • 84978343099 scopus 로고    scopus 로고
    • Finding risks, not answers, in gene tests
    • September 22
    • Grady D, Pollack A. Finding risks, not answers, in gene tests. New York Times, September 22, 2014 (http://www.nytimes.com/2014/09/23/health/finding-risks-not-answers-in-gene-tests.html?module=Search&mabReward=relbias%3Ar%2C{%222%22%3A%22RI%3A13%22}&-r=0).
    • (2014) New York Times
    • Grady, D.1    Pollack, A.2
  • 6
    • 84923197673 scopus 로고    scopus 로고
    • FDA regulation of laboratory-developed diagnostic tests: Protect the public, advance the science
    • Sharfstein J. FDA regulation of laboratory-developed diagnostic tests: protect the public, advance the science. JAMA 2015;313:667-8.
    • (2015) JAMA , vol.313 , pp. 667-668
    • Sharfstein, J.1
  • 7
    • 84925400314 scopus 로고    scopus 로고
    • Cutting the Gordian helix - Regulating genomic testing in the era of precision medicine
    • Lander ES. Cutting the Gordian helix - regulating genomic testing in the era of precision medicine. N Engl J Med 2015;372:1185-6.
    • (2015) N Engl J Med , vol.372 , pp. 1185-1186
    • Lander, E.S.1
  • 8
    • 84930532210 scopus 로고    scopus 로고
    • The FDA and genomic tests - Getting regulation right
    • Evans BJ, Burke W, Jarvik GP. The FDA and genomic tests - getting regulation right. N Engl J Med 2015;372:2258-64.
    • (2015) N Engl J Med , vol.372 , pp. 2258-2264
    • Evans, B.J.1    Burke, W.2    Jarvik, G.P.3
  • 10
    • 0038744296 scopus 로고    scopus 로고
    • Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies
    • Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003;72:1117-30.
    • (2003) Am J Hum Genet , vol.72 , pp. 1117-1130
    • Antoniou, A.1    Pharoah, P.D.2    Narod, S.3
  • 11
    • 84892903093 scopus 로고    scopus 로고
    • BOADICEA breast cancer risk prediction model: Updates to cancer incidences, tumour pathology and Web interface
    • Lee AJ, Cunningham AP, Kuchenbaecker KB, Mavaddat N, Easton DF, Antoniou AC. BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and Web interface. Br J Cancer 2014;110:535-45.
    • (2014) Br J Cancer , vol.110 , pp. 535-545
    • Lee, A.J.1    Cunningham, A.P.2    Kuchenbaecker, K.B.3    Mavaddat, N.4    Easton, D.F.5    Antoniou, A.C.6
  • 12
    • 34248170114 scopus 로고    scopus 로고
    • Meta-analysis of BRCA1 and BRCA2 penetrance
    • Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 2007;25:1329-33.
    • (2007) J Clin Oncol , vol.25 , pp. 1329-1333
    • Chen, S.1    Parmigiani, G.2
  • 13
    • 84878823452 scopus 로고    scopus 로고
    • Cancer risks for BRCA1 and BRCA2 mutation carriers: Results from prospective analysis of EMBRACE
    • Mavaddat N, Peock S, Frost D, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst 2013;105:812-22.
    • (2013) J Natl Cancer Inst , vol.105 , pp. 812-822
    • Mavaddat, N.1    Peock, S.2    Frost, D.3
  • 15
    • 0345269984 scopus 로고    scopus 로고
    • Germline p53 mutations in a cohort with childhood sarcoma: Sex differences in cancer risk
    • 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;72:975-83.
    • (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
    • 84878888088 scopus 로고    scopus 로고
    • High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
    • Bubien V, Bonnet F, Brouste V, et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet 2013;50:255-63.
    • (2013) J Med Genet , vol.50 , pp. 255-263
    • Bubien, V.1    Bonnet, F.2    Brouste, V.3
  • 18
    • 0035211026 scopus 로고    scopus 로고
    • Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families
    • Pharoah PD, Guilford P, Caldas C. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 2001;121:1348-53.
    • (2001) Gastroenterology , vol.121 , pp. 1348-1353
    • Pharoah, P.D.1    Guilford, P.2    Caldas, C.3
  • 19
    • 33744782567 scopus 로고    scopus 로고
    • Frequency and spectrum of cancers in the Peutz-Jeghers syndrome
    • Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 2006;12:3209-15.
    • (2006) Clin Cancer Res , vol.12 , pp. 3209-3215
    • Hearle, N.1    Schumacher, V.2    Menko, F.H.3
  • 21
    • 84928757073 scopus 로고    scopus 로고
    • Age-specific risk of breast cancer in women with neurofibromatosis type 1
    • Seminog OO, Goldacre MJ. Age-specific risk of breast cancer in women with neurofibromatosis type 1. Br J Cancer 2015;112:1546-8.
    • (2015) Br J Cancer , vol.112 , pp. 1546-1548
    • Seminog, O.O.1    Goldacre, M.J.2
  • 22
    • 84908145253 scopus 로고    scopus 로고
    • Breast-cancer risk in families with mutations in PALB2
    • Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med 2014;371:497-506.
    • (2014) N Engl J Med , vol.371 , pp. 497-506
    • Antoniou, A.C.1    Casadei, S.2    Heikkinen, T.3
  • 23
    • 65649112112 scopus 로고    scopus 로고
    • The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype
    • Heikkinen T, Kärkkäinen H, Aaltonen K, et al. The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res 2009;15:3214-22.
    • (2009) Clin Cancer Res , vol.15 , pp. 3214-3222
    • Heikkinen, T.1    Kärkkäinen, H.2    Aaltonen, K.3
  • 24
    • 33846625493 scopus 로고    scopus 로고
    • PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
    • Rahman N, Seal S, Thompson D, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 2007;39:165-7.
    • (2007) Nat Genet , vol.39 , pp. 165-167
    • Rahman, N.1    Seal, S.2    Thompson, D.3
  • 25
    • 33847227378 scopus 로고    scopus 로고
    • A recurrent mutation in PALB2 in Finnish cancer families
    • Erkko H, Xia B, Nikkilä J, et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature 2007;446:316-9.
    • (2007) Nature , vol.446 , pp. 316-319
    • Erkko, H.1    Xia, B.2    Nikkilä, J.3
  • 26
    • 33746491583 scopus 로고    scopus 로고
    • ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
    • Renwick A, Thompson D, Seal S, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006;38:873-5.
    • (2006) Nat Genet , vol.38 , pp. 873-875
    • Renwick, A.1    Thompson, D.2    Seal, S.3
  • 27
    • 20544474516 scopus 로고    scopus 로고
    • Cancer risks and mortality in heterozygous ATM mutation carriers
    • Thompson D, Duedal S, Kirner J, et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst 2005;97:813-22.
    • (2005) J Natl Cancer Inst , vol.97 , pp. 813-822
    • Thompson, D.1    Duedal, S.2    Kirner, J.3
  • 28
    • 0032926569 scopus 로고    scopus 로고
    • Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: Haplotype study in French AT families
    • Janin N, Andrieu N, Ossian K, et al. Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families. Br J Cancer 1999;80:1042-5.
    • (1999) Br J Cancer , vol.80 , pp. 1042-1045
    • Janin, N.1    Andrieu, N.2    Ossian, K.3
  • 29
    • 23644442874 scopus 로고    scopus 로고
    • Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia
    • Olsen JH, Hahnemann JM, Børresen-Dale AL, et al. Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia. Br J Cancer 2005;93:260-5.
    • (2005) Br J Cancer , vol.93 , pp. 260-265
    • Olsen, J.H.1    Hahnemann, J.M.2    Børresen-Dale, A.L.3
  • 30
    • 18544389716 scopus 로고    scopus 로고
    • Low-penetrance susceptibility to breast cancer due to CHEK2(∗)1100delC in noncarriers of BRCA1 or BRCA2 mutations
    • Meijers-Heijboer H, van den Ouweland A, Klijn J, et al. Low-penetrance susceptibility to breast cancer due to CHEK2(∗)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002;31:55-9.
    • (2002) Nat Genet , vol.31 , pp. 55-59
    • Meijers-Heijboer, H.1    Van Den Ouweland, A.2    Klijn, J.3
  • 31
    • 3042582651 scopus 로고    scopus 로고
    • CHEK2∗1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from nine studies
    • CHEK2 Breast Cancer Case-Control Consortium. CHEK2∗1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from nine studies. Am J Hum Genet 2004;74:1175-82.
    • (2004) Am J Hum Genet , vol.74 , pp. 1175-1182
  • 32
    • 84870744620 scopus 로고    scopus 로고
    • CHEK2∗1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer
    • Weischer M, Nordestgaard BG, Pharoah P, et al. CHEK2∗1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. J Clin Oncol 2012;30:4308-16.
    • (2012) J Clin Oncol , vol.30 , pp. 4308-4316
    • Weischer, M.1    Nordestgaard, B.G.2    Pharoah, P.3
  • 33
    • 3843071233 scopus 로고    scopus 로고
    • CHEK2 variant I157T may be associated with increased breast cancer risk
    • Kilpivaara O, Vahteristo P, Falck J, et al. CHEK2 variant I157T may be associated with increased breast cancer risk. Int J Cancer 2004;111:543-7.
    • (2004) Int J Cancer , vol.111 , pp. 543-547
    • Kilpivaara, O.1    Vahteristo, P.2    Falck, J.3
  • 34
    • 84885426057 scopus 로고    scopus 로고
    • Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk
    • Zhang G, Zeng Y, Liu Z, Wei W. Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk. Tumour Biol 2013;34:2753-7.
    • (2013) Tumour Biol , vol.34 , pp. 2753-2757
    • Zhang, G.1    Zeng, Y.2    Liu, Z.3    Wei, W.4
  • 35
    • 0037380994 scopus 로고    scopus 로고
    • Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method
    • Hogervorst FB, Nederlof PM, Gille JJ, et al. Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res 2003;63:1449-53.
    • (2003) Cancer Res , vol.63 , pp. 1449-1453
    • Hogervorst, F.B.1    Nederlof, P.M.2    Gille, J.J.3
  • 36
    • 84930534512 scopus 로고    scopus 로고
    • Lyon, France: International Agency for Research on Cancer
    • Cancer incidence in five continents. Vol. X. Lyon, France: International Agency for Research on Cancer, 2013 (http://www.iarc.fr/en/publications/pdfs-online/epi/sp164/index.php).
    • (2013) Cancer Incidence in Five Continents , vol.10
  • 37
    • 13744256264 scopus 로고    scopus 로고
    • Breast cancer risks for BRCA1/2 carriers
    • Easton DF, Hopper JL, Thomas DC, et al. Breast cancer risks for BRCA1/2 carriers. Science 2004;306:2187-91.
    • (2004) Science , vol.306 , pp. 2187-2191
    • Easton, D.F.1    Hopper, J.L.2    Thomas, D.C.3
  • 38
    • 50549083074 scopus 로고    scopus 로고
    • Curses - Winner's and otherwise - In genetic epidemiology
    • Kraft P. Curses - winner's and otherwise - in genetic epidemiology. Epidemiology 2008;19:649-51.
    • (2008) Epidemiology , vol.19 , pp. 649-651
    • Kraft, P.1
  • 39
    • 0035125062 scopus 로고    scopus 로고
    • Variation in cancer risks, by mutation position, in BRCA2 mutation carriers
    • Thompson D, Easton D. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 2001;68:410-9.
    • (2001) Am J Hum Genet , vol.68 , pp. 410-419
    • Thompson, D.1    Easton, D.2
  • 40
    • 84875703379 scopus 로고    scopus 로고
    • Large-scale genotyping identifies 41 new loci associated with breast cancer risk
    • Michailidou K, Hall P, Gonzalez-Neira A, et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 2013;45:353-61.
    • (2013) Nat Genet , vol.45 , pp. 353-361
    • Michailidou, K.1    Hall, P.2    Gonzalez-Neira, A.3
  • 41
    • 0025633582 scopus 로고
    • Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
    • Malkin D, Li FP, Strong LC, et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 1990;250:1233-8.
    • (1990) Science , vol.250 , pp. 1233-1238
    • Malkin, D.1    Li, F.P.2    Strong, L.C.3
  • 42
    • 0031004088 scopus 로고    scopus 로고
    • Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
    • Liaw D, Marsh DJ, Li J, et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997;16:(1)64-7.
    • (1997) Nat Genet , vol.16 , Issue.1 , pp. 64-67
    • Liaw, D.1    Marsh, D.J.2    Li, J.3
  • 43
    • 33747884830 scopus 로고    scopus 로고
    • RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability
    • Heikkinen K, Rapakko K, Karppinen SM, et al. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis 2006;27:1593-9.
    • (2006) Carcinogenesis , vol.27 , pp. 1593-1599
    • Heikkinen, K.1    Rapakko, K.2    Karppinen, S.M.3
  • 44
    • 33646372196 scopus 로고    scopus 로고
    • Evaluation of RAD50 in familial breast cancer predisposition
    • Tommiska J, Seal S, Renwick A, et al. Evaluation of RAD50 in familial breast cancer predisposition. Int J Cancer 2006;118:2911-6.
    • (2006) Int J Cancer , vol.118 , pp. 2911-2916
    • Tommiska, J.1    Seal, S.2    Renwick, A.3
  • 46
    • 84860333452 scopus 로고    scopus 로고
    • RAD50 and NBS1 are not likely to be susceptibility genes in Chinese non-BRCA1/2 hereditary breast cancer
    • He M, Di GH, Cao AY, 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.
    • (2012) Breast Cancer Res Treat , vol.133 , pp. 111-116
    • He, M.1    Di, G.H.2    Cao, A.Y.3
  • 47
    • 56649086648 scopus 로고    scopus 로고
    • Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene
    • Bartkova J, Tommiska J, Oplustilova L, et al. Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene. Mol Oncol 2008;2:296-316.
    • (2008) Mol Oncol , vol.2 , pp. 296-316
    • Bartkova, J.1    Tommiska, J.2    Oplustilova, L.3
  • 48
    • 84905731318 scopus 로고    scopus 로고
    • Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: Results from a Breast Cancer Family Registry case-control mutation-screening study
    • Damiola F, Pertesi M, Oliver J, et al. Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study. Breast Cancer Res 2014;16:R58.
    • (2014) Breast Cancer Res , vol.16 , pp. R58
    • Damiola, F.1    Pertesi, M.2    Oliver, J.3
  • 49
    • 79960815893 scopus 로고    scopus 로고
    • RAD51C is a susceptibility gene for ovarian cancer
    • Pelttari LM, Heikkinen T, Thompson D, et al. RAD51C is a susceptibility gene for ovarian cancer. Hum Mol Genet 2011;20:3278-88.
    • (2011) Hum Mol Genet , vol.20 , pp. 3278-3288
    • Pelttari, L.M.1    Heikkinen, T.2    Thompson, D.3
  • 50
    • 84860320440 scopus 로고    scopus 로고
    • Germline RAD51C mutations confer susceptibility to ovarian cancer
    • Loveday C, Turnbull C, Ruark E, et al. Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat Genet 2012;44:475-6.
    • (2012) Nat Genet , vol.44 , pp. 475-476
    • Loveday, C.1    Turnbull, C.2    Ruark, E.3
  • 51
    • 80052264429 scopus 로고    scopus 로고
    • Germline mutations in RAD51D confer susceptibility to ovarian cancer
    • Loveday C, Turnbull C, Ramsay E, et al. Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet 2011;43:879-82.
    • (2011) Nat Genet , vol.43 , pp. 879-882
    • Loveday, C.1    Turnbull, C.2    Ramsay, E.3
  • 52
    • 84864314189 scopus 로고    scopus 로고
    • A Finnish founder mutation in RAD51D: Analysis in breast, ovarian, prostate, and colorectal cancer
    • Pelttari LM, Kiiski J, Nurminen R, et al. A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer. J Med Genet 2012;49:429-32.
    • (2012) J Med Genet , vol.49 , pp. 429-432
    • Pelttari, L.M.1    Kiiski, J.2    Nurminen, R.3
  • 53
    • 80054973810 scopus 로고    scopus 로고
    • Mutations in BRIP1 confer high risk of ovarian cancer
    • Rafnar T, Gudbjartsson DF, Sulem P, et al. Mutations in BRIP1 confer high risk of ovarian cancer. Nat Genet 2011;43:1104-7.
    • (2011) Nat Genet , vol.43 , pp. 1104-1107
    • Rafnar, T.1    Gudbjartsson, D.F.2    Sulem, P.3
  • 54
    • 84866932831 scopus 로고    scopus 로고
    • Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles
    • Thompson ER, Doyle MA, Ryland GL, et al. Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet 2012;8(9):e1002894.
    • (2012) PLoS Genet , vol.8 , Issue.9
    • Thompson, E.R.1    Doyle, M.A.2    Ryland, G.L.3
  • 55
    • 84908031249 scopus 로고    scopus 로고
    • Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer
    • Kiiski JI, Pelttari LM, Khan S, et al. Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer. Proc Natl Acad Sci U S A 2014;111:15172-7.
    • (2014) Proc Natl Acad Sci U S A , vol.111 , pp. 15172-15177
    • Kiiski, J.I.1    Pelttari, L.M.2    Khan, S.3
  • 56
    • 84859479737 scopus 로고    scopus 로고
    • Rare mutations in XRCC2 increase the risk of breast cancer
    • Park DJ, Lesueur F, Nguyen-Dumont T, et al. Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet 2012;90:734-9.
    • (2012) Am J Hum Genet , vol.90 , pp. 734-739
    • Park, D.J.1    Lesueur, F.2    Nguyen-Dumont, T.3
  • 57
    • 84930092326 scopus 로고    scopus 로고
    • Germline RECQL mutations are associated with breast cancer susceptibility
    • April (Epub ahead of print)
    • Cybulski C, Carrot-Zhang J, Kluźniak W, et al. Germline RECQL mutations are associated with breast cancer susceptibility. Nat Genet 2015;April 27 (Epub ahead of print).
    • (2015) Nat Genet , pp. 27
    • Cybulski, C.1    Carrot-Zhang, J.2    Kluźniak, W.3
  • 58
    • 84930534513 scopus 로고    scopus 로고
    • Mutations in RECQL gene are associated with predisposition to breast cancer
    • Sun J, Wang Y, Xia Y, et al. Mutations in RECQL gene are associated with predisposition to breast cancer. PLoS Genet 2015;11(5):e1005228.
    • (2015) PLoS Genet , vol.11 , Issue.5
    • Sun, J.1    Wang, Y.2    Xia, Y.3
  • 59
    • 84875017487 scopus 로고    scopus 로고
    • Risk of breast cancer in Lynch syndrome: A systematic review
    • Win AK, Lindor NM, Jenkins MA. Risk of breast cancer in Lynch syndrome: a systematic review. Breast Cancer Res 2013;15:R27.
    • (2013) Breast Cancer Res , vol.15 , pp. R27
    • Win, A.K.1    Lindor, N.M.2    Jenkins, M.A.3
  • 60
    • 84863987457 scopus 로고    scopus 로고
    • MUTYH gene variants and breast cancer in a Dutch case-control study
    • Out AA, Wasielewski M, Huijts PE, et al. MUTYH gene variants and breast cancer in a Dutch case-control study. Breast Cancer Res Treat 2012;134:219-27.
    • (2012) Breast Cancer Res Treat , vol.134 , pp. 219-227
    • Out, A.A.1    Wasielewski, M.2    Huijts, P.E.3
  • 61
    • 84905717730 scopus 로고    scopus 로고
    • Breast-cancer predisposition in multiple endocrine neoplasia type 1
    • Dreijerink KM, Goudet P, Burgess JR, Valk GD. Breast-cancer predisposition in multiple endocrine neoplasia type 1. N Engl J Med 2014;371:583-4.
    • (2014) N Engl J Med , vol.371 , pp. 583-584
    • Dreijerink, K.M.1    Goudet, P.2    Burgess, J.R.3    Valk, G.D.4
  • 62
    • 84872621246 scopus 로고    scopus 로고
    • Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
    • Ruark E, Snape K, Humburg P, et al. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature 2013;493:406-10.
    • (2013) Nature , vol.493 , pp. 406-410
    • Ruark, E.1    Snape, K.2    Humburg, P.3
  • 63
    • 35348834779 scopus 로고    scopus 로고
    • A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
    • Easton DF, Deffenbaugh AM, Pruss D, et al. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet 2007;81:873-83.
    • (2007) Am J Hum Genet , vol.81 , pp. 873-883
    • Easton, D.F.1    Deffenbaugh, A.M.2    Pruss, D.3
  • 64
    • 84857688644 scopus 로고    scopus 로고
    • A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)
    • Lindor NM, Guidugli L, Wang X, et al. A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). Hum Mutat 2012;33:8-21.
    • (2012) Hum Mutat , vol.33 , pp. 8-21
    • Lindor, N.M.1    Guidugli, L.2    Wang, X.3
  • 66
    • 55549101314 scopus 로고    scopus 로고
    • Sequence variant classification and reporting: Recommendations for improving the interpretation of cancer susceptibility genetic test results
    • Plon SE, Eccles DM, Easton D, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008;29:1282-91.
    • (2008) Hum Mutat , vol.29 , pp. 1282-1291
    • Plon, S.E.1    Eccles, D.M.2    Easton, D.3
  • 67
    • 84860389647 scopus 로고    scopus 로고
    • Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: Results from a breast cancer family registry case-control mutation-screening study
    • Le Calvez-Kelm F, Lesueur F, Damiola F, et al. Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. Breast Cancer Res 2011;13:R6.
    • (2011) Breast Cancer Res , vol.13 , pp. R6
    • Le Calvez-Kelm, F.1    Lesueur, F.2    Damiola, F.3
  • 68
    • 80053100604 scopus 로고    scopus 로고
    • Rare variants in the ATM gene and risk of breast cancer
    • Goldgar DE, Healey S, Dowty JG, et al. Rare variants in the ATM gene and risk of breast cancer. Breast Cancer Res 2011;13:R73.
    • (2011) Breast Cancer Res , vol.13 , pp. R73
    • Goldgar, D.E.1    Healey, S.2    Dowty, J.G.3
  • 69
    • 84899789619 scopus 로고    scopus 로고
    • Growing recognition of the role for rare missense substitutions in breast cancer susceptibility
    • Tavtigian SV, Chenevix-Trench G. Growing recognition of the role for rare missense substitutions in breast cancer susceptibility. Biomark Med 2014;8:589-603.
    • (2014) Biomark Med , vol.8 , pp. 589-603
    • Tavtigian, S.V.1    Chenevix-Trench, G.2
  • 70
    • 27544515629 scopus 로고    scopus 로고
    • Interaction between CHEK2∗1100delC and other low-penetrance breast-cancer susceptibility genes: A familial study
    • Johnson N, Fletcher O, Naceur-Lombardelli C, dos Santos Silva I, Ashworth A, Peto J. Interaction between CHEK2∗1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. Lancet 2005;366:1554-7.
    • (2005) Lancet , vol.366 , pp. 1554-1557
    • Johnson, N.1    Fletcher, O.2    Naceur-Lombardelli, C.3    Dos Santos Silva, I.4    Ashworth, A.5    Peto, J.6
  • 71
    • 41649097333 scopus 로고    scopus 로고
    • Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
    • Antoniou AC, Spurdle AB, Sinilnikova OM, et al. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet 2008;82:937-48.
    • (2008) Am J Hum Genet , vol.82 , pp. 937-948
    • Antoniou, A.C.1    Spurdle, A.B.2    Sinilnikova, O.M.3
  • 72
    • 84875735063 scopus 로고    scopus 로고
    • Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors
    • Nickels S, Truong T, Hein R, et al. Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors. PLoS Genet 2013;9(3):e1003284.
    • (2013) PLoS Genet , vol.9 , Issue.3
    • Nickels, S.1    Truong, T.2    Hein, R.3
  • 73
    • 80051961905 scopus 로고    scopus 로고
    • Interactions between genetic variants and breast cancer risk factors in the Breast and Prostate Cancer Cohort Consortium
    • Campa D, Kaaks R, Le Marchand L, et al. Interactions between genetic variants and breast cancer risk factors in the Breast and Prostate Cancer Cohort Consortium. J Natl Cancer Inst 2011;103:1252-63.
    • (2011) J Natl Cancer Inst , vol.103 , pp. 1252-1263
    • Campa, D.1    Kaaks, R.2    Le Marchand, L.3
  • 74
    • 84961288344 scopus 로고    scopus 로고
    • Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors
    • Rudolph A, Milne RL, Truong T, et al. Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors. Int J Cancer 2015;136(6):E685-E696.
    • (2015) Int J Cancer , vol.136 , Issue.6 , pp. E685-E696
    • Rudolph, A.1    Milne, R.L.2    Truong, T.3
  • 75
    • 84930713152 scopus 로고    scopus 로고
    • Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: Systematic review and meta-analysis
    • Friebel TM, Domchek SM, Rebbeck TR. Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis. J Natl Cancer Inst 2014;106:dju091.
    • (2014) J Natl Cancer Inst , vol.106
    • Friebel, T.M.1    Domchek, S.M.2    Rebbeck, T.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.