메뉴 건너뛰기




Volumn 35, Issue 10, 2016, Pages 1324-1327

Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations

(27)  Golmard, L a,b   Delnatte, C c   Lauge A a   Moncoutier, V a   Lefol, C a   Abidallah, K a   Tenreiro, H a   Copigny, F a   Giraudeau, M a   Guy, C a   Barbaroux, C a   Amorim, G a   Briaux, A a   Guibert, V c   Tarabeux, J a,b   Caputo, S a   Collet, A a   Gesta, P d   Ingster, O e   Stern, M H a,b   more..


Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 84961197202     PISSN: 09509232     EISSN: 14765594     Source Type: Journal    
DOI: 10.1038/onc.2015.181     Document Type: Article
Times cited : (41)

References (32)
  • 3
    • 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, Ellis S, Platte R, Fineberg E, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst 2013; 105: 812-822.
    • (2013) J Natl Cancer Inst , vol.105 , pp. 812-822
    • Mavaddat, N.1    Peock, S.2    Frost, D.3    Ellis, S.4    Platte, R.5    Fineberg, E.6
  • 4
    • 84862173376 scopus 로고    scopus 로고
    • Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases
    • Caputo S, Benboudjema L, Sinilnikova O, Rouleau E, Béroud C, Lidereau R, et al. Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. Nucleic Acids Res 2012; 40: D992-D1002.
    • (2012) Nucleic Acids Res , vol.40 , pp. D992-D1002
    • Caputo, S.1    Benboudjema, L.2    Sinilnikova, O.3    Rouleau, E.4    Béroud, C.5    Lidereau, R.6
  • 5
    • 0033358556 scopus 로고    scopus 로고
    • De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation
    • Tesoriero A, Andersen C, Southey M, Somers G, McKay M, Armes J, et al. De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation. Am J Hum Genet 1999; 65: 567-569.
    • (1999) Am J Hum Genet , vol.65 , pp. 567-569
    • Tesoriero, A.1    Andersen, C.2    Southey, M.3    Somers, G.4    McKay, M.5    Armes, J.6
  • 6
    • 70449528422 scopus 로고    scopus 로고
    • Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer
    • Edwards E, Yearwood C, Sillibourne J, Baralle D, Eccles D. Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer. Fam Cancer 2009; 8: 479-482.
    • (2009) Fam Cancer , vol.8 , pp. 479-482
    • Edwards, E.1    Yearwood, C.2    Sillibourne, J.3    Baralle, D.4    Eccles, D.5
  • 7
    • 79958123875 scopus 로고    scopus 로고
    • A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer
    • 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: 233-237.
    • (2011) Fam Cancer. , vol.10 , pp. 233-237
    • Kwong, A.1    Ng, E.K.2    Tang, E.Y.3    Wong, C.L.4    Law, F.B.5    Leung, C.P.6
  • 8
    • 80053623085 scopus 로고    scopus 로고
    • A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer
    • Garcia-Casado Z, Romero I, Fernandez-Serra A, Rubio L, Llopis F, Garcia A, et al. A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer. BMC Med Genet 2011; 12: 134.
    • (2011) BMC Med Genet , vol.12 , pp. 134
    • Garcia-Casado, Z.1    Romero, I.2    Fernandez-Serra, A.3    Rubio, L.4    Llopis, F.5    Garcia, A.6
  • 9
    • 84857917249 scopus 로고    scopus 로고
    • Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: Implications for genetic testing
    • De Leeneer K, Coene I, Crombez B, Simkens J, Van den Broecke R, Bols A, et al. Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing. Breast Cancer Res Treat 2012; 132: 87-95.
    • (2012) Breast Cancer Res Treat , vol.132 , pp. 87-95
    • De Leeneer, K.1    Coene, I.2    Crombez, B.3    Simkens, J.4    Van Den Broecke, R.5    Bols, A.6
  • 10
    • 84881614507 scopus 로고    scopus 로고
    • A germline mosaic BRCA1 exon deletion in a woman with bilateral basal-like breast cancer
    • Delon I, Taylor A, Molenda A, Drummond J, Oakhill K, Girling A, et al. A germline mosaic BRCA1 exon deletion in a woman with bilateral basal-like breast cancer. Clin Genet. 2013; 84: 297-299.
    • (2013) Clin Genet. , vol.84 , pp. 297-299
    • Delon, I.1    Taylor, A.2    Molenda, A.3    Drummond, J.4    Oakhill, K.5    Girling, A.6
  • 12
    • 0036168960 scopus 로고    scopus 로고
    • Unique de novo mutation of BRCA2 in a woman with early onset breast cancer
    • Robson M, Scheuer L, Nafa K, Ellis N, Offit K. Unique de novo mutation of BRCA2 in a woman with early onset breast cancer. J Med Genet 2002; 39: 126-128.
    • (2002) J Med Genet , vol.39 , pp. 126-128
    • Robson, M.1    Scheuer, L.2    Nafa, K.3    Ellis, N.4    Offit, K.5
  • 14
    • 70449455405 scopus 로고    scopus 로고
    • Case report: De novo BRCA2 gene mutation in a 35-year-old woman with breast cancer
    • Marshall M, Solomon S, Lawrence Wickerham D. Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer. Clin Genet 2009; 76: 427-430.
    • (2009) Clin Genet , vol.76 , pp. 427-430
    • Marshall, M.1    Solomon, S.2    Lawrence Wickerham, D.3
  • 15
    • 77951298523 scopus 로고    scopus 로고
    • A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer
    • Diez O, Gutiérrez-Enríquez S, Mediano C, Masas M, Saura C, Gadea N, et al. A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer. Breast Cancer Res Treat 2010; 121: 221-225.
    • (2010) Breast Cancer Res Treat , vol.121 , pp. 221-225
    • Diez, O.1    Gutiérrez-Enríquez, S.2    Mediano, C.3    Masas, M.4    Saura, C.5    Gadea, N.6
  • 16
  • 19
    • 84894031472 scopus 로고    scopus 로고
    • A new scoring system in cancer genetics: Application to criteria for BRCA1 and BRCA2 mutation screening
    • Bonaïti B, Alarcon F, Andrieu N, Bonadona V, Dondon MG, Pennec S, et al. A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening. J Med Genet 2014; 51: 114-121.
    • (2014) J Med Genet , vol.51 , pp. 114-121
    • Bonaïti, B.1    Alarcon, F.2    Andrieu, N.3    Bonadona, V.4    Dondon, M.G.5    Pennec, S.6
  • 20
    • 79958127012 scopus 로고    scopus 로고
    • Assessment of the prevalence of de novo mutations in the BRCA1 and BRCA2 genes
    • Zhang L, Fleischut MH, Kohut K, Spencer S, Wong K, Stadler ZK, et al. Assessment of the prevalence of de novo mutations in the BRCA1 and BRCA2 genes. Clin Genet 2011; 80: 97-98.
    • (2011) Clin Genet , vol.80 , pp. 97-98
    • Zhang, L.1    Fleischut, M.H.2    Kohut, K.3    Spencer, S.4    Wong, K.5    Stadler, Z.K.6
  • 21
    • 80054760378 scopus 로고    scopus 로고
    • Variation in the mutation rate across mammalian genomes
    • Hodgkinson A, Eyre-Walker A. Variation in the mutation rate across mammalian genomes. Nat Rev Genet 2011; 12: 756-766.
    • (2011) Nat Rev Genet , vol.12 , pp. 756-766
    • Hodgkinson, A.1    Eyre-Walker, A.2
  • 22
    • 79951785351 scopus 로고    scopus 로고
    • EMMA, a cost-And time-Effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: Application to BRCA1 and BRCA2 in 1525 patients
    • Caux-Moncoutier V, Castéra L, Tirapo C, Michaux D, Rémon MA, Laugé A, et al. EMMA, a cost-And time-Effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1525 patients. Hum Mutat 2011; 32: 325-334.
    • (2011) Hum Mutat , vol.32 , pp. 325-334
    • Caux-Moncoutier, V.1    Castéra, L.2    Tirapo, C.3    Michaux, D.4    Rémon, M.A.5    Laugé, A.6
  • 23
    • 84863970074 scopus 로고    scopus 로고
    • De novo mutations in human genetic disease
    • Veltman JA, Brunner HG. De novo mutations in human genetic disease. Nat Rev Genet 2012; 13: 565-575.
    • (2012) Nat Rev Genet , vol.13 , pp. 565-575
    • Veltman, J.A.1    Brunner, H.G.2
  • 24
    • 77949916951 scopus 로고    scopus 로고
    • Fertility in women with BRCA mutations: A case-control study
    • Hereditary Breast Cancer Clinical Study Group
    • Pal T, Keefe D, Sun P, Narod SAHereditary Breast Cancer Clinical Study Group, Fertility in women with BRCA mutations: a case-control study Fertil Steril 2010; 93: 1805-1808
    • (2010) Fertil Steril , vol.93 , pp. 1805-1808
    • Pal, T.1    Keefe, D.2    Sun, P.3    Narod, S.A.4
  • 26
    • 77249112200 scopus 로고    scopus 로고
    • Impact of BRCA mutations on female fertility and offspring sex ratio
    • Moslehi R, Singh R, Lessner L, Friedman JM. Impact of BRCA mutations on female fertility and offspring sex ratio. Am J Hum Biol 2010; 22: 201-205.
    • (2010) Am J Hum Biol , vol.22 , pp. 201-205
    • Moslehi, R.1    Singh, R.2    Lessner, L.3    Friedman, J.M.4
  • 27
    • 0037033733 scopus 로고    scopus 로고
    • A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes
    • Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, Peto J, et al. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 2002; 86: 76-83.
    • (2002) Br J Cancer , vol.86 , pp. 76-83
    • Antoniou, A.C.1    Pharoah, P.D.2    McMullan, G.3    Day, N.E.4    Stratton, M.R.5    Peto, J.6
  • 28
    • 84876592083 scopus 로고    scopus 로고
    • A genomic view of mosaicism and human disease
    • Biesecker LG, Spinner NB. A genomic view of mosaicism and human disease. Nat Rev Genet 2013; 14: 307-320.
    • (2013) Nat Rev Genet , vol.14 , pp. 307-320
    • Biesecker, L.G.1    Spinner, N.B.2
  • 29
    • 77955439715 scopus 로고    scopus 로고
    • Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
    • Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci USA 2010; 107: 12629-12633.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 12629-12633
    • Walsh, T.1    Lee, M.K.2    Casadei, S.3    Thornton, A.M.4    Stray, S.M.5    Pennil, C.6
  • 30
    • 33749002551 scopus 로고    scopus 로고
    • Models of genetic susceptibility to breast cancer
    • Antoniou AC, Easton DF. Models of genetic susceptibility to breast cancer. Oncogene 2006; 25: 5898-5905.
    • (2006) Oncogene , vol.25 , pp. 5898-5905
    • Antoniou, A.C.1    Easton, D.F.2
  • 32
    • 34548125297 scopus 로고    scopus 로고
    • High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1
    • Rouleau E, Lefol C, Tozlu S, Andrieu C, Guy C, Copigny F, et al. High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1. Clin Genet 2007; 72: 199-207.
    • (2007) Clin Genet , vol.72 , pp. 199-207
    • Rouleau, E.1    Lefol, C.2    Tozlu, S.3    Andrieu, C.4    Guy, C.5    Copigny, F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.