메뉴 건너뛰기




Volumn 2, Issue 3, 2010, Pages 1644-1660

The clinical significance of unknown sequence variants in BRCA genes

Author keywords

BRCA genes; Integrated models; Oncogenetic counseling; Variant

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 79952284425     PISSN: None     EISSN: 20726694     Source Type: Journal    
DOI: 10.3390/cancers2031644     Document Type: Review
Times cited : (32)

References (65)
  • 3
    • 29144453481 scopus 로고    scopus 로고
    • Brca1 and brca2: The genetic testing and the current management options for mutation carriers
    • Palma, M.; Ristori, E.; Ricevuto, E.; Giannini, G.; Gulino, A. Brca1 and brca2: The genetic testing and the current management options for mutation carriers. Crit. Rev. Oncol. Hematol. 2006, 57, 1-23.
    • (2006) Crit. Rev. Oncol. Hematol. , vol.57 , pp. 1-23
    • Palma, M.1    Ristori, E.2    Ricevuto, E.3    Giannini, G.4    Gulino, A.5
  • 4
    • 38149058787 scopus 로고    scopus 로고
    • The clinical management of brca1 and brca2 mutation carriers
    • Gulati, A.P.; Domchek, S.M. The clinical management of brca1 and brca2 mutation carriers. Curr. Oncol. Rep. 2008, 10, 47-53.
    • (2008) Curr. Oncol. Rep. , vol.10 , pp. 47-53
    • Gulati, A.P.1    Domchek, S.M.2
  • 7
    • 0142178215 scopus 로고    scopus 로고
    • Breast and ovarian cancer risks due to inherited mutations in brca1 and brca2
    • King, M.C.; Marks, J.H.; Mandell, J.B. 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
  • 11
    • 4544336084 scopus 로고    scopus 로고
    • Integrated evaluation of DNA sequence variants of unknown clinical significance: Application to brca1 and brca2
    • Goldgar, D.E.; Easton, D.F.; Deffenbaugh, A.M.; Monteiro, A.N.; Tavtigian, S.V.; Couch, F.J. Integrated evaluation of DNA sequence variants of unknown clinical significance: Application to brca1 and brca2. Am. J. Hum. Genet. 2004, 75, 535-544.
    • (2004) Am. J. Hum. Genet. , vol.75 , 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
  • 15
    • 26844544418 scopus 로고    scopus 로고
    • Genetic testing in an ethnically diverse cohort of high-risk women: A comparative analysis of brca1 and brca2 mutations in american families of european and african ancestry
    • Nanda, R.; Schumm, L.P.; Cummings, S.; Fackenthal, J.D.; Sveen, L.; Ademuyiwa, F.; Cobleigh, M.; Esserman, L.; Lindor, N.M.; Neuhausen, S.L.; Olopade, O.I. Genetic testing in an ethnically diverse cohort of high-risk women: A comparative analysis of brca1 and brca2 mutations in american families of european and african ancestry. JAMA 2005, 294, 1925-1933.
    • (2005) JAMA , vol.294 , pp. 1925-1933
    • Nanda, R.1    Schumm, L.P.2    Cummings, S.3    Fackenthal, J.D.4    Sveen, L.5    Ademuyiwa, F.6    Cobleigh, M.7    Esserman, L.8    Lindor, N.M.9    Neuhausen, S.L.10    Olopade, O.I.11
  • 17
    • 17044371510 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms in clinical genetic testing: The characterization of the clinical significance of genetic variants and their application in clinical research for brca1
    • Judkins, T.; Hendrickson, B.C.; Deffenbaugh, A.M.; Scholl, T. Single nucleotide polymorphisms in clinical genetic testing: The characterization of the clinical significance of genetic variants and their application in clinical research for brca1. Mutat. Res. 2005, 573, 168-179.
    • (2005) Mutat. Res. , vol.573 , pp. 168-179
    • Judkins, T.1    Hendrickson, B.C.2    Deffenbaugh, A.M.3    Scholl, T.4
  • 19
    • 55549137442 scopus 로고    scopus 로고
    • Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
    • Goldgar, D.E.; Easton, D.F.; Byrnes, G.B.; Spurdle, A.B.; Iversen, E.S.; Greenblatt, M.S. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum. Mutat. 2008, 29, 1265-1272.
    • (2008) Hum. Mutat. , vol.29 , pp. 1265-1272
    • Goldgar, D.E.1    Easton, D.F.2    Byrnes, G.B.3    Spurdle, A.B.4    Iversen, E.S.5    Greenblatt, M.S.6
  • 21
  • 23
    • 55549124905 scopus 로고    scopus 로고
    • Prediction and assessment of splicing alterations: Implications for clinical testing
    • Spurdle, A.B.; Couch, F.J.; Hogervorst, F.B.; Radice, P.; Sinilnikova, O.M. Prediction and assessment of splicing alterations: Implications for clinical testing. Hum. Mutat. 2008, 29, 1304-1313.
    • (2008) Hum. Mutat. , vol.29 , pp. 1304-1313
    • Spurdle, A.B.1    Couch, F.J.2    Hogervorst, F.B.3    Radice, P.4    Sinilnikova, O.M.5
  • 24
    • 55549145156 scopus 로고    scopus 로고
    • In silico analysis of missense substitutions using sequence-alignment based methods
    • Tavtigian, S.V.; Greenblatt, M.S.; Lesueur, F.; Byrnes, G.B. In silico analysis of missense substitutions using sequence-alignment based methods. Hum. Mutat. 2008, 29, 1327-1336.
    • (2008) Hum. Mutat. , vol.29 , pp. 1327-1336
    • Tavtigian, S.V.1    Greenblatt, M.S.2    Lesueur, F.3    Byrnes, G.B.4
  • 30
    • 0032728326 scopus 로고    scopus 로고
    • The role of cultural variables in breast self-examination and cervical cancer screening behavior in young asian women living in the united states
    • Tang, T.S.; Solomon, L.J.; Yeh, C.J.; Worden, J.K. The role of cultural variables in breast self-examination and cervical cancer screening behavior in young asian women living in the united states. J. Behav. Med. 1999, 22, 419-436.
    • (1999) J. Behav. Med. , vol.22 , pp. 419-436
    • Tang, T.S.1    Solomon, L.J.2    Yeh, C.J.3    Worden, J.K.4
  • 31
    • 0029281279 scopus 로고
    • Brca1: More than a hereditary breast cancer gene?
    • Boyd, J. Brca1: More than a hereditary breast cancer gene? Nat. Genet. 1995, 9, 335-336.
    • (1995) Nat. Genet. , vol.9 , pp. 335-336
    • Boyd, J.1
  • 32
    • 0035065040 scopus 로고    scopus 로고
    • Apparent human brca1 knockout caused by mispriming during polymerase chain reaction: Implications for genetic testing
    • Kuschel, B.; Gayther, S.A.; Easton, D.F.; Ponder, B.A.; Pharoah, P.D. Apparent human brca1 knockout caused by mispriming during polymerase chain reaction: Implications for genetic testing. Genes Chromosomes Cancer 2001, 31, 96-98.
    • (2001) Genes Chromosomes Cancer , vol.31 , pp. 96-98
    • Kuschel, B.1    Gayther, S.A.2    Easton, D.F.3    Ponder, B.A.4    Pharoah, P.D.5
  • 33
    • 33644925583 scopus 로고    scopus 로고
    • An analysis of unclassified missense substitutions in human brca1
    • Tavtigian, S.V.; Samollow, P.B.; de Silva, D.; Thomas, A. An analysis of unclassified missense substitutions in human brca1. Fam. Cancer 2006, 5, 77-88.
    • (2006) Fam. Cancer , vol.5 , pp. 77-88
    • Tavtigian, S.V.1    Samollow, P.B.2    de Silva, D.3    Thomas, A.4
  • 36
    • 1642373326 scopus 로고    scopus 로고
    • Marsupial brca1: Conserved regions in mammals and the potential effect of missense changes
    • Ramirez, C.J.; Fleming, M.A.; Potter, J.D.; Ostrander, G.K.; Ostrander, E.A. Marsupial brca1: Conserved regions in mammals and the potential effect of missense changes. Oncogene 2004, 23, 1780-1788.
    • (2004) Oncogene , vol.23 , pp. 1780-1788
    • Ramirez, C.J.1    Fleming, M.A.2    Potter, J.D.3    Ostrander, G.K.4    Ostrander, E.A.5
  • 38
    • 56749160290 scopus 로고    scopus 로고
    • Clinically applicable models to characterize brca1 and brca2 variants of uncertain significance
    • Spearman, A.D.; Sweet, K.; Zhou, X.P.; McLennan, J.; Couch, F.J.; Toland, A.E. Clinically applicable models to characterize brca1 and brca2 variants of uncertain significance. J. Clin. Oncol. 2008, 26, 5393-5400.
    • (2008) J. Clin. Oncol. , vol.26 , pp. 5393-5400
    • Spearman, A.D.1    Sweet, K.2    Zhou, X.P.3    McLennan, J.4    Couch, F.J.5    Toland, A.E.6
  • 39
    • 0016197604 scopus 로고
    • Amino acid difference formula to help explain protein evolution
    • Grantham, R. Amino acid difference formula to help explain protein evolution. Science 1974, 185, 862-864.
    • (1974) Science , vol.185 , pp. 862-864
    • Grantham, R.1
  • 43
    • 58549098527 scopus 로고    scopus 로고
    • E3 ligase activity of brca1 is not essential for mammalian cell viability or homology-directed repair of double-strand DNA breaks
    • Reid, L.J.; Shakya, R.; Modi, A.P.; Lokshin, M.; Cheng, J.T.; Jasin, M.; Baer, R.; Ludwig, T. E3 ligase activity of brca1 is not essential for mammalian cell viability or homology-directed repair of double-strand DNA breaks. Proc. Natl. Acad. Sci. USA 2008, 105, 20876-20881.
    • (2008) Proc. Natl. Acad. Sci. USA , vol.105 , pp. 20876-20881
    • Reid, L.J.1    Shakya, R.2    Modi, A.P.3    Lokshin, M.4    Cheng, J.T.5    Jasin, M.6    Baer, R.7    Ludwig, T.8
  • 44
    • 0035805582 scopus 로고    scopus 로고
    • The ring heterodimer brca1-bard1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation
    • Hashizume, R.; Fukuda, M.; Maeda, I.; Nishikawa, H.; Oyake, D.; Yabuki, Y.; Ogata, H.; Ohta, T. The ring heterodimer brca1-bard1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. J. Biol. Chem. 2001, 276, 14537-14540.
    • (2001) J. Biol. Chem. , vol.276 , pp. 14537-14540
    • Hashizume, R.1    Fukuda, M.2    Maeda, I.3    Nishikawa, H.4    Oyake, D.5    Yabuki, Y.6    Ogata, H.7    Ohta, T.8
  • 45
    • 32144463131 scopus 로고    scopus 로고
    • Genetic analysis of brca1 ubiquitin ligase activity and its relationship to breast cancer susceptibility
    • Morris, J.R.; Pangon, L.; Boutell, C.; Katagiri, T.; Keep, N.H.; Solomon, E. Genetic analysis of brca1 ubiquitin ligase activity and its relationship to breast cancer susceptibility. Hum. Mol. Genet. 2006, 15, 599-606.
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 599-606
    • Morris, J.R.1    Pangon, L.2    Boutell, C.3    Katagiri, T.4    Keep, N.H.5    Solomon, E.6
  • 46
    • 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, A.N. 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
  • 48
    • 0035099044 scopus 로고    scopus 로고
    • Brca2 is required for homology-directed repair of chromosomal breaks
    • Moynahan, M.E.; Pierce, A.J.; Jasin, M. Brca2 is required for homology-directed repair of chromosomal breaks. Mol. Cell. 2001, 7, 263-272.
    • (2001) Mol. Cell. , vol.7 , pp. 263-272
    • Moynahan, M.E.1    Pierce, A.J.2    Jasin, M.3
  • 52
    • 4944229642 scopus 로고    scopus 로고
    • Hallmarks of 'brcaness' in sporadic cancers
    • Turner, N.; Tutt, A.; Ashworth, A. Hallmarks of 'brcaness' in sporadic cancers. Nat. Rev. Cancer 2004, 4, 814-819.
    • (2004) Nat. Rev. Cancer , vol.4 , pp. 814-819
    • Turner, N.1    Tutt, A.2    Ashworth, A.3
  • 55
    • 0014800108 scopus 로고
    • Distinguishing homologous from analogous proteins
    • Fitch, W.M. Distinguishing homologous from analogous proteins. Syst. Zool. 1970, 19, 99-113.
    • (1970) Syst. Zool. , vol.19 , pp. 99-113
    • Fitch, W.M.1
  • 57
    • 38149120394 scopus 로고    scopus 로고
    • Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans
    • Capriotti, E.; Arbiza, L.; Casadio, R.; Dopazo, J.; Dopazo, H.; Marti-Renom, M.A. Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans. Hum. Mutat. 2008, 29, 198-204.
    • (2008) Hum. Mutat. , vol.29 , pp. 198-204
    • Capriotti, E.1    Arbiza, L.2    Casadio, R.3    Dopazo, J.4    Dopazo, H.5    Marti-Renom, M.A.6
  • 59
    • 55549147204 scopus 로고    scopus 로고
    • Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications
    • Tavtigian, S.V.; Byrnes, G.B.; Goldgar, D.E.; Thomas, A. Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Hum. Mutat. 2008, 29, 1342-1354.
    • (2008) Hum. Mutat. , vol.29 , pp. 1342-1354
    • Tavtigian, S.V.1    Byrnes, G.B.2    Goldgar, D.E.3    Thomas, A.4
  • 60
    • 0031897964 scopus 로고    scopus 로고
    • Likelihood ratio tests for detecting positive selection and application to primate lysozyme evolution
    • Yang. Likelihood ratio tests for detecting positive selection and application to primate lysozyme evolution. Mol. Biol. Evol. 1998, 15, 568-573.
    • (1998) Mol. Biol. Evol. , vol.15 , pp. 568-573
    • Yang1
  • 63
    • 77951189878 scopus 로고    scopus 로고
    • Enhanced counselling for women undergoing brca1/2 testing: Impact on knowledge and psychological distress-results from a randomised clinical trial
    • Roussi, P.; Sherman, K.A.; Miller, S.; Buzaglo, J.; Daly, M.; Taylor, A.; Ross, E.; Godwin, A. Enhanced counselling for women undergoing brca1/2 testing: Impact on knowledge and psychological distress-results from a randomised clinical trial. Psychol. Health 2009, 25, 401-415.
    • (2009) Psychol. Health , vol.25 , pp. 401-415
    • Roussi, P.1    Sherman, K.A.2    Miller, S.3    Buzaglo, J.4    Daly, M.5    Taylor, A.6    Ross, E.7    Godwin, A.8
  • 64
    • 55349103791 scopus 로고    scopus 로고
    • Mri and mammography surveillance of women at increased risk for breast cancer: Recommendations using an evidence-based approach
    • Granader, E.J.; Dwamena, B.; Carlos, R.C. Mri and mammography surveillance of women at increased risk for breast cancer: Recommendations using an evidence-based approach. Acad. Radiol. 2008, 15, 1590-1595.
    • (2008) Acad. Radiol. , vol.15 , pp. 1590-1595
    • Granader, E.J.1    Dwamena, B.2    Carlos, R.C.3
  • 65
    • 58749091606 scopus 로고    scopus 로고
    • Breast cancer risks in women with a family history of breast or ovarian cancer who have tested negative for a brca1 or brca2 mutation
    • Metcalfe, K.A.; Finch, A.; Poll, A.; Horsman, D.; Kim-Sing, C.; Scott, J.; Royer, R.; Sun, P.; Narod, S.A. Breast cancer risks in women with a family history of breast or ovarian cancer who have tested negative for a brca1 or brca2 mutation. Br. J. Cancer 2009, 100, 421-425.
    • (2009) Br. J. Cancer , vol.100 , pp. 421-425
    • Metcalfe, K.A.1    Finch, A.2    Poll, A.3    Horsman, D.4    Kim-Sing, C.5    Scott, J.6    Royer, R.7    Sun, P.8    Narod, S.A.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.