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Volumn 18, Issue 1, 2016, Pages

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

(102)  Rebbeck, Timothy R a   Friebel, Tara M a   Mitra, Nandita b   Wan, Fei c   Chen, Stephanie d   Andrulis, Irene L g,h   Apostolou, Paraskevi i   Arnold, Norbert j   Arun, Banu K k   Barrowdale, Daniel e   Benitez, Javier l,m   Berger, Raanan n   Berthet, Pascaline o   Borg, Ake p   Buys, Saundra S q   Caldes, Trinidad r   Carter, Jonathan s   Chiquette, Jocelyne t   Claes, Kathleen B M u   Couch, Fergus J v   more..


Author keywords

BRCA1; BRCA2; Hereditary breast and ovarian cancer; Transheterozygosity

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; ESTROGEN RECEPTOR; PROGESTERONE RECEPTOR;

EID: 85000995840     PISSN: 14655411     EISSN: 1465542X     Source Type: Journal    
DOI: 10.1186/s13058-016-0768-3     Document Type: Article
Times cited : (47)

References (39)
  • 1
    • 0037093063 scopus 로고    scopus 로고
    • Selective loss of heterozygosity in multiple breast cancers from a carrier of mutations in both BRCA1 and BRCA2
    • Bell DW, Erban J, Sgroi DC, Haber DA. Selective loss of heterozygosity in multiple breast cancers from a carrier of mutations in both BRCA1 and BRCA2. Cancer Res. 2002;62(10):2741-3.
    • (2002) Cancer Res , vol.62 , Issue.10 , pp. 2741-2743
    • Bell, D.W.1    Erban, J.2    Sgroi, D.C.3    Haber, D.A.4
  • 5
    • 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)
    • 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. 2007a;9(2):104
    • (2007) Breast Cancer Res , vol.9 , Issue.2 , 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
  • 10
    • 70449534798 scopus 로고    scopus 로고
    • Methylation not a frequent "second hit" in tumors with germline BRCA mutations
    • Dworkin AM, Spearman AD, Tseng SY, Sweet K, Toland AE. Methylation not a frequent "second hit" in tumors with germline BRCA mutations. Fam Cancer. 2009;8(4):339-46.
    • (2009) Fam Cancer , vol.8 , Issue.4 , pp. 339-346
    • Dworkin, A.M.1    Spearman, A.D.2    Tseng, S.Y.3    Sweet, K.4    Toland, A.E.5
  • 12
    • 4544336084 scopus 로고    scopus 로고
    • Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2
    • Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet. 2004;75(4):535-44.
    • (2004) Am J Hum Genet , vol.75 , Issue.4 , pp. 535-544
    • Goldgar, D.E.1    Easton, D.F.2    Deffenbaugh, A.M.3    Monteiro, A.N.4    Tavtigian, S.V.5    Couch, F.J.6
  • 16
    • 33846591472 scopus 로고    scopus 로고
    • Genetic intra-tumour heterogeneity in epithelial ovarian cancer and its implications for molecular diagnosis of tumours
    • Khalique L, Ayhan A, Weale ME, Jacobs IJ, Ramus SJ, Gayther SA. Genetic intra-tumour heterogeneity in epithelial ovarian cancer and its implications for molecular diagnosis of tumours. J Pathol. 2007;211(3):286-95.
    • (2007) J Pathol , vol.211 , Issue.3 , pp. 286-295
    • Khalique, L.1    Ayhan, A.2    Weale, M.E.3    Jacobs, I.J.4    Ramus, S.J.5    Gayther, S.A.6
  • 17
    • 0036512383 scopus 로고    scopus 로고
    • Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: a founder mutation of BRCA1 identified in the Chinese population
    • Khoo US, Chan KY, Cheung AN, Xue WC, Shen DH, Fung KY, Ngan HY, Choy KW, Pang CP, Poon CS, et al. Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: a founder mutation of BRCA1 identified in the Chinese population. Hum Mutat. 2002;19(3):307-8.
    • (2002) Hum Mutat , vol.19 , Issue.3 , pp. 307-308
    • Khoo, U.S.1    Chan, K.Y.2    Cheung, A.N.3    Xue, W.C.4    Shen, D.H.5    Fung, K.Y.6    Ngan, H.Y.7    Choy, K.W.8    Pang, C.P.9    Poon, C.S.10
  • 18
    • 0142178215 scopus 로고    scopus 로고
    • Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    • King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003;302(5645):643-6.
    • (2003) Science , vol.302 , Issue.5645 , pp. 643-646
    • King, M.C.1    Marks, J.H.2    Mandell, J.B.3
  • 21
    • 85057444884 scopus 로고    scopus 로고
    • A breast cancer patient of Scottish descent with germ-line mutations in BRCA1 and BRCA2
    • Liede A, Rehal P, Vesprini D, Jack E, Abrahamson J, Narod SA. A breast cancer patient of Scottish descent with germ-line mutations in BRCA1 and BRCA2. Am J Hum Genet. 1998;62(6):1543-4.
    • (1998) Am J Hum Genet , vol.62 , Issue.6 , pp. 1543-1544
    • Liede, A.1    Rehal, P.2    Vesprini, D.3    Jack, E.4    Abrahamson, J.5    Narod, S.A.6
  • 22
    • 33749023325 scopus 로고    scopus 로고
    • Fanconi anaemia genes and susceptibility to cancer
    • Mathew CG. Fanconi anaemia genes and susceptibility to cancer. Oncogene. 2006;25(43):5875-84.
    • (2006) Oncogene , vol.25 , Issue.43 , pp. 5875-5884
    • Mathew, C.G.1
  • 24
    • 34548580984 scopus 로고    scopus 로고
    • Heterogenic loss of BRCA in breast cancer: the "two-hit" hypothesis takes a hit
    • Meric-Bernstam F. Heterogenic loss of BRCA in breast cancer: the "two-hit" hypothesis takes a hit. Ann Surg Oncol. 2007;14(9):2428-9.
    • (2007) Ann Surg Oncol , vol.14 , Issue.9 , pp. 2428-2429
    • Meric-Bernstam, F.1
  • 26
    • 33749413268 scopus 로고    scopus 로고
    • Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy
    • Miolo G, Puppa LD, Santarosa M, De Giacomi C, Veronesi A, Bidoli E, Tibiletti MG, Viel A, Dolcetti R. Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy. BMC Cancer. 2006;6:156.
    • (2006) BMC Cancer. , vol.6 , pp. 156
    • Miolo, G.1    Puppa, L.D.2    Santarosa, M.3    Giacomi, C.4    Veronesi, A.5    Bidoli, E.6    Tibiletti, M.G.7    Viel, A.8    Dolcetti, R.9
  • 28
    • 0032168958 scopus 로고    scopus 로고
    • Germline mutations of the BRCA1 and BRCA2 genes in a breast and ovarian cancer patient
    • Randall TC, Bell KA, Rebane BA, Rubin SC, Boyd J. Germline mutations of the BRCA1 and BRCA2 genes in a breast and ovarian cancer patient. Gynecol Oncol. 1998;70(3):432-4.
    • (1998) Gynecol Oncol , vol.70 , Issue.3 , pp. 432-434
    • Randall, T.C.1    Bell, K.A.2    Rebane, B.A.3    Rubin, S.C.4    Boyd, J.5
  • 31
    • 0026935108 scopus 로고
    • Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome
    • Smith SA, Easton DF, Evans DG, Ponder BA. Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome. Nat Genet. 1992;2(2):128-31.
    • (1992) Nat Genet , vol.2 , Issue.2 , pp. 128-131
    • Smith, S.A.1    Easton, D.F.2    Evans, D.G.3    Ponder, B.A.4
  • 37
    • 77955019276 scopus 로고    scopus 로고
    • Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial
    • Tutt A, Robson M, Garber JE, Domchek SM, Audeh MW, Weitzel JN, Friedlander M, Arun B, Loman N, Schmutzler RK, et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet. 2010;376(9737):235-44.
    • (2010) Lancet , vol.376 , Issue.9737 , pp. 235-244
    • Tutt, A.1    Robson, M.2    Garber, J.E.3    Domchek, S.M.4    Audeh, M.W.5    Weitzel, J.N.6    Friedlander, M.7    Arun, B.8    Loman, N.9    Schmutzler, R.K.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.