메뉴 건너뛰기




Volumn 12, Issue 3, 2010, Pages 329-340

BRCA1 and BRCA2 genetic testing in breast and/or ovarian cancer families in Iran

Author keywords

BRCA1; BRCA2; Breast cancer; Dna sequencing; Familial cancer

Indexed keywords

ASPARAGINE; BRCA1 PROTEIN; BRCA2 PROTEIN; GLUTAMIC ACID; GLUTAMINE; GLYCINE; HISTIDINE; LEUCINE; PROLINE; SERINE; VALINE;

EID: 78650431913     PISSN: 15614921     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (31)
  • 1
    • 67349222061 scopus 로고    scopus 로고
    • Breast cancer susceptibility: Current knowledge and implications for genetic counseling
    • Ripperger T, Gadzicki D, Meindi A, Schlegelberger D. Breast cancer susceptibility: Current knowledge and implications for genetic counseling. Eur J Hum Genet. 2009;17:722-731.
    • (2009) Eur J Hum Genet. , vol.17 , pp. 722-731
    • Ripperger, T.1    Gadzicki, D.2    Meindi, A.3    Schlegelberger, D.4
  • 3
    • 0035030368 scopus 로고    scopus 로고
    • Breast cancer genetics: What we know and what we need
    • DOI 10.1038/87876
    • Nathanson K.N. Wooster R. Weber B.L. Breast cancer genetics: What we know and what we need Nature Medicine 2001 7 5 552-556 DOI 10.1038/87876 3. Nathanson KL, Wooster R, Weber BL. Breast cancer genetics: What we know and what we need. Nat Med.. 2001;7:552-556. (Pubitemid 32448321)
    • (2001) Nature Medicine , vol.7 , Issue.5 , pp. 552-556
    • Nathanson, K.N.1    Wooster, R.2    Weber, B.L.3
  • 4
    • 36448996703 scopus 로고    scopus 로고
    • Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
    • DOI 10.1038/nrc2054, PII NRC2054
    • Fackenthal J.D. Olopade O.I. Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations Nature Reviews Cancer 2007 7 12 937-948 DOI 10.1038/nrc2054, PII NRC2054 4. Fackenthal JD, Olopade OI. Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer. 2007; 7: 937-948. (Pubitemid 350165853)
    • (2007) Nature Reviews Cancer , vol.7 , Issue.12 , pp. 937-948
    • Fackenthal, J.D.1    Olopade, O.I.2
  • 5
    • 0142178215 scopus 로고    scopus 로고
    • New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    • King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003; 302: 643-646.
    • (2003) Science , vol.302 , pp. 643-646
    • King, M.C.1    Marks, J.H.2    Mandell, J.B.3
  • 6
    • 0034307185 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 are necessary for the transcription-coupled repair of the oxidative 8-oxoguanine lesion in human cells
    • Le Page F, Randrianarison V, Marot D, Cabannes J, Perricaudet M, Feunteun J, et al. BRCA1 and BRCA2 Are Necessary for the Transcription-Coupled Repair of the Oxidative 8-Oxoguanine Lesion in Human Cells. Cancer Res. 2000; 60: 5548-5552.
    • (2000) Cancer Res. , vol.60 , pp. 5548-5552
    • Le Page, F.1    Randrianarison, V.2    Marot, D.3    Cabannes, J.4    Perricaudet, M.5    Feunteun, J.6
  • 7
    • 0037684805 scopus 로고    scopus 로고
    • The multiple nuclear functions of BRCA1: Transcription, ubiquitination and DNA repair
    • Starita LM, Parvin JD. The multiple nuclear functions of BRCA1 : transcription, ubiquitination and DNA repair. Curr Opin Cell Biol. 2003; 15: 345-350.
    • (2003) Curr Opin Cell Biol. , vol.15 , pp. 345-350
    • Starita, L.M.1    Parvin, J.D.2
  • 8
    • 4544374528 scopus 로고    scopus 로고
    • BRCA1 and BRCA2: 1994 and beyond
    • Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer. 2004; 4: 665-676.
    • (2004) Nat Rev Cancer. , Issue.4 , pp. 665-676
    • Narod, S.A.1    Foulkes, W.D.2
  • 9
    • 0033799478 scopus 로고    scopus 로고
    • Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing
    • Unger MA, Nathanson KL, Calzone K, Antin-Ozerkis D, Shih HA, Martin AM, et al. Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. Am J Hum Genet. 2000; 67: 841-850.
    • (2000) Am J Hum Genet. , vol.67 , pp. 841-850
    • Unger, M.A.1    Nathanson, K.L.2    Calzone, K.3    Antin-Ozerkis, D.4    Shih, H.A.5    Martin, A.M.6
  • 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, Risch HA, Eyfjord JE, Hopper JL, 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: 1117-1130.
    • (2003) Am J Hum Genet. , vol.72 , pp. 1117-1130
    • Antoniou, A.1    Pharoah, P.D.2    Narod, S.3    Risch, H.A.4    Eyfjord, J.E.5    Hopper, J.L.6
  • 11
    • 33645084562 scopus 로고    scopus 로고
    • Spectrum of mutations in BRCA1, BRCA2, CHEK2 and TP53 in families at high risk of breast cancer
    • Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2 and TP53 in families at high risk of breast cancer. JAMA. 2006; 295: 1379-1388.
    • (2006) JAMA , vol.295 , pp. 1379-1388
    • Walsh, T.1    Casadei, S.2    Coats, K.H.3    Swisher, E.4    Stray, S.M.5    Higgins, J.6
  • 12
    • 2142744874 scopus 로고    scopus 로고
    • RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain
    • Campos B, Diez O, Domènech M, Baena M, Balmaña J, Sanz J, et al. RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain. Hum Mutat. 2003; 22: 337.
    • (2003) Hum Mutat. , vol.22 , pp. 337
    • Campos, B.1    Diez, O.2    Domènech, M.3    Baena, M.4    Balmaña, J.5    Sanz, J.6
  • 13
    • 67649204822 scopus 로고    scopus 로고
    • Genomics and breast cancer: The different levels of inherited susceptibility
    • Beggs AD, Hodgson SV. Genomics and breast cancer: The different levels of inherited susceptibility Eur J Hum Genet. 2009; 17: 855-856.
    • (2009) Eur J Hum Genet. , vol.17 , pp. 855-856
    • Beggs, A.D.1    Hodgson, S.V.2
  • 14
    • 21744458567 scopus 로고    scopus 로고
    • Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: Results from a prospective population-based study in France
    • Bonadona V, Sinilnikova OM, Chopin S, Antoniou AC, Mignotte H, Mathevet P, et al. Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in France. Genes, Chromosomes Cancer. 2005; 43: 404-413.
    • (2005) Genes, Chromosomes Cancer , vol.43 , pp. 404-413
    • Bonadona, V.1    Sinilnikova, O.M.2    Chopin, S.3    Antoniou, A.C.4    Mignotte, H.5    Mathevet, P.6
  • 15
    • 25844455357 scopus 로고    scopus 로고
    • BRCA1 mutations and polymorphisms in a hospital-based consecutive series of breast cancer patients from Apulia, Italy
    • Tommasi S, Crapolicchio A, Lacalamita R, Bruno M, Monaco A, Petroni S , et al. BRCA1 mutations and polymorphisms in a hospital-based consecutive series of breast cancer patients from Apulia, Italy. Mutat Res. 2005; 578: 395-405.
    • (2005) Mutat Res. , vol.578 , pp. 395-405
    • Tommasi, S.1    Crapolicchio, A.2    Lacalamita, R.3    Bruno, M.4    Monaco, A.5    Petroni, S.6
  • 16
    • 0037389507 scopus 로고    scopus 로고
    • Roles of BRCA1 in DNA damage repair: A link between development and cancer
    • Deng CX, Wang RH. Roles of BRCA1 in DNA damage repair: a link between development and cancer. Hum Mol Genet. 2003; 12 Spec No 1: R113-123.
    • (2003) Hum Mol Genet. , vol.12 , Issue.SPEC NO 1
    • Deng, C.X.1    Wang, R.H.2
  • 17
    • 63249089822 scopus 로고    scopus 로고
    • Igh prevalence of preinvasive lesions adjacent to BRCA1/2-associated breast cancers
    • Arun B, Vogel KJ, Lopez A, Hernandez M, Atchley D, Broglio KR, et al. igh prevalence of preinvasive lesions adjacent to BRCA1/2-associated breast cancers. Cancer Prev Res; 2009; 2(2): 122-127.
    • (2009) Cancer Prev Res , vol.2 , Issue.2 , pp. 122-127
    • Arun, B.1    Vogel, K.J.2    Lopez, A.3    Hernandez, M.4    Atchley, D.5    Broglio, K.R.6
  • 18
    • 0036247531 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 in hereditary breast cancer
    • DOI 10.1016/S0300-9084(01)01359-1, PII S0300908401013591
    • Scully R. Puget N. BRCA1 and BRCA2 in hereditary breast cancer Biochimie 2002 84 1 95-102 DOI 10.1016/S0300-9084(01)01359-1, PII S0300908401013591 18. Scully R, Puget N. BRCA1 and BRCA2 in hereditary breast cancer. Biochimie. 2002; 84: 95-102. (Pubitemid 34477097)
    • (2002) Biochimie , vol.84 , Issue.1 , pp. 95-102
    • Scully, R.1    Puget, N.2
  • 19
    • 43149118369 scopus 로고    scopus 로고
    • Cell cycle-dependent complex formation of BRCA1. CtlP. MRN is important for DNA double-strand break repair
    • Chen L, Nievera CJ, Lee AY, Wu X. Cell cycle-dependent complex formation of BRCA1. CtlP. MRN is important for DNA double-strand break repair. J Biol Chem. 2008;283:7713-7720.
    • (2008) J Biol Chem. , vol.283 , pp. 7713-7720
    • Chen, L.1    Nievera, C.J.2    Lee, A.Y.3    Wu, X.4
  • 21
    • 0034194328 scopus 로고    scopus 로고
    • Functional assay for BRCA1: Mutagenesis of the COOH-terminal region reveals critical residues for transcription activation
    • Hayes F, Cayanan C, Barilla D, Monteiro AN. Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation.Cancer Res. 2000; 60: 2411-2418.
    • (2000) Cancer Res. , vol.60 , pp. 2411-2418
    • Hayes, F.1    Cayanan, C.2    Barilla, D.3    Monteiro, A.N.4
  • 23
    • 0037087536 scopus 로고    scopus 로고
    • Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals
    • DOI 10.1200/JCO.20.6.1480
    • Frank T.S. Deffenbaugh A.M. Reid J.E. Hulick M. Ward B.E. Lingenfelter B. Gumpper K.L. Scholl T. Tavtigian S.V. Pruss D.R. Critchfield G.C. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals Journal of Clinical Oncology 2002 20 6 1480-1490 DOI 10.1200/JCO.20.6.1480 23. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, et al. Clinical characteristics of individuals with germ line mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol. 2002; 20: 1480-1490. (Pubitemid 34260526)
    • (2002) Journal of Clinical Oncology , vol.20 , Issue.6 , pp. 1480-1490
    • Frank, T.S.1    Deffenbaugh, A.M.2    Reid, J.E.3    Hulick, M.4    Ward, B.E.5    Lingenfelter, B.6    Gumpper, K.L.7    Scholl, T.8    Tavtigian, S.V.9    Pruss, D.R.10    Critchfield, G.C.11
  • 24
    • 33644872552 scopus 로고    scopus 로고
    • Update on the Manchester Scoring System for BRCA1 and BRCA2 testing
    • Evans DG, Lalloo F, Wallace A, Rahman N. Update on the Manchester Scoring System for BRCA1 and BRCA2 testing. J Med Genet. 2005; 42(7): e39.
    • (2005) J Med Genet. , vol.42 , Issue.7
    • Evans, D.G.1    Lalloo, F.2    Wallace, A.3    Rahman, N.4
  • 25
    • 7944237307 scopus 로고    scopus 로고
    • The BOADICEA model of genetic susceptibility to breast and ovarian cancer
    • Antoniou A.C. Pharoah P.P.D. Smith P. Easton D.F. The BOADICEA model of genetic susceptibility to breast and ovarian cancer British Journal of Cancer 2004 91 8 1580-1590 25. Antoniou AC, Pharoah PP, Smith P, Easton DF. The BOADICEA model of genetic susceptibility to breast and ovarian cancer. BrJ Cancer. 2004; 91:1580-1590. (Pubitemid 39486366)
    • (2004) British Journal of Cancer , vol.91 , Issue.8 , pp. 1580-1590
    • Antoniou, A.C.1    Pharoah, P.P.D.2    Smith, P.3    Easton, D.F.4
  • 26
    • 70350714352 scopus 로고    scopus 로고
    • Nature of genetic variants in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan
    • Lin YP, Chen YL, Chang HT, Li S. Nature of genetic variants in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan. Life Science Journal. 2009; 6:99-103.
    • (2009) Life Science Journal. , vol.6 , pp. 99-103
    • Lin, Y.P.1    Chen, Y.L.2    Chang, H.T.3    Li, S.4
  • 27
    • 3142699826 scopus 로고    scopus 로고
    • Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation
    • Abkevich V. Zharkikh A. Deffenbaugh A.M. Frank D. Chen Y. Shattuck D. Skolnick M.H. Gutin A. Tavtigian S.V. Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation Journal of Medical Genetics 2004 41 7 492-507 27. Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, et al. Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. J Med Genet. 2004; 41:492-507. (Pubitemid 38932109)
    • (2004) Journal of Medical Genetics , vol.41 , Issue.7 , pp. 492-507
    • Abkevich, V.1    Zharkikh, A.2    Deffenbaugh, A.M.3    Frank, D.4    Chen, Y.5    Shattuck, D.6    Skolnick, M.H.7    Gutin, A.8    Tavtigian, S.V.9
  • 28
    • 50549096296 scopus 로고    scopus 로고
    • Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals
    • De Silva W, Karunanayake EH, Tennekoon KH, Allen M, Amarasinghe I, Angunawala P, et al. Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals. BMC Cancer. 2008; 8: 214.
    • (2008) BMC Cancer. , vol.8 , pp. 214
    • De Silva, W.1    Karunanayake, E.H.2    Tennekoon, K.H.3    Allen, M.4    Amarasinghe, I.5    Angunawala, P.6
  • 29
    • 0034734384 scopus 로고    scopus 로고
    • The BRCA1 C-terminal domain: Structure and function
    • DOI 10.1016/S0921-8777(00)00034-3, PII S0921877700000343
    • Huyton T. Bates P.A. Zhang X. Sternberg M.J.E. Freemont P.S. The BRCA1 C-terminal domain: Structure and function Mutation Research - DNA Repair 2000 460 3 4 319-332 DOI 10.1016/S0921-8777(00)00034-3, PII S0921877700000343 29. Huyton T, Bates PA, Zhang X, Sternberg MJ, Freemont PS. The BRCA1 C-terminal domain: structure and function. Mutat Res. 2000; 460: 319-332. (Pubitemid 30628598)
    • (2000) Mutation Research - DNA Repair , vol.460 , Issue.3-4 , pp. 319-332
    • Huyton, T.1    Bates, P.A.2    Zhang, X.3    Sternberg, M.J.E.4    Freemont, P.S.5
  • 31
    • 8044228419 scopus 로고    scopus 로고
    • Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population
    • DOI 10.1093/hmg/6.2.285
    • Dunning A.M. Chiano M. Smith N.R. Dearden J. Gore M. Oakes S. Wilson C. Stratton M. Peto J. Easton D. Clayton D. Ponder B.A.J. Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population Human Molecular Genetics 1997 6 2 285-289 DOI 10.1093/hmg/6.2.285 31. Dunning AM, Chiano M, Smith NR, Dearden J, Gore M, Oakes S, et al. Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population. Hum Mol Genet. 1997; 6: 285-289. (Pubitemid 27078085)
    • (1997) Human Molecular Genetics , vol.6 , Issue.2 , pp. 285-289
    • Dunning, A.M.1    Chiano, M.2    Smith, N.R.3    Dearden, J.4    Gore, M.5    Oakes, S.6    Wilson, C.7    Stratton, M.8    Peto, J.9    Easton, D.10    Clayton, D.11    Ponder, B.A.J.12


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.