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Volumn 25, Issue 5, 2005, Pages 415-422

Genomic rearrangements in the BRCA1 and BRCA2 genes

Author keywords

BRCA1; BRCA2; Breast cancer; Genetic predisposition; Ovarian cancer; Rearrangement

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 18744401644     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20169     Document Type: Review
Times cited : (135)

References (53)
  • 1
    • 0036409283 scopus 로고    scopus 로고
    • The detection of large deletions or duplications in genomic DNA
    • Armour JA, Barton DE, Cockburn DJ, Taylor GR. 2002. The detection of large deletions or duplications in genomic DNA. Hum Mutat 20:325-337.
    • (2002) Hum Mutat , vol.20 , pp. 325-337
    • Armour, J.A.1    Barton, D.E.2    Cockburn, D.J.3    Taylor, G.R.4
  • 2
    • 1242318567 scopus 로고    scopus 로고
    • Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families
    • Barrois M, Bieche I, Mazoyer S, Champeme MH, Bressac-de Paillerets B, Lidereau R. 2004. Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families. Clin Genet 65:131-136.
    • (2004) Clin Genet , vol.65 , pp. 131-136
    • Barrois, M.1    Bieche, I.2    Mazoyer, S.3    Champeme, M.H.4    Bressac-de Paillerets, B.5    Lidereau, R.6
  • 3
    • 0033021719 scopus 로고    scopus 로고
    • Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability
    • Bateman JF, Freddi S, Lamande SR, Byers P, Nasioulas S, Douglas J, Otway R, Kohonen-Corish M, Edkins E, Forrest S. 1999. Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability. Hum Mutat 13:311-317.
    • (1999) Hum Mutat , vol.13 , pp. 311-317
    • Bateman, J.F.1    Freddi, S.2    Lamande, S.R.3    Byers, P.4    Nasioulas, S.5    Douglas, J.6    Otway, R.7    Kohonen-Corish, M.8    Edkins, E.9    Forrest, S.10
  • 4
    • 0033909581 scopus 로고    scopus 로고
    • The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations
    • BRCA1 Exon 13 Duplication Screening Group. 2000. The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. Am J Hum Genet 67:207-212.
    • (2000) Am J Hum Genet , vol.67 , pp. 207-212
  • 5
    • 0001558720 scopus 로고    scopus 로고
    • An in frame deletion of BRCA1 exon 20 in a family with early onset breast cancer and ovarian cancer
    • Carson N, Gilpin C, Hunter A, Allanson J, Aubry H. 1999. An in frame deletion of BRCA1 exon 20 in a family with early onset breast cancer and ovarian cancer. Am J Hum Genet 65:A1610.
    • (1999) Am J Hum Genet , vol.65
    • Carson, N.1    Gilpin, C.2    Hunter, A.3    Allanson, J.4    Aubry, H.5
  • 6
    • 0036024851 scopus 로고    scopus 로고
    • Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments
    • Casilli F, Di Rocco ZC, Gad S, Tournier I, Stoppa-Lyonnet D, Frebourg T, Tosi M. 2002. Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat 20:218-226.
    • (2002) Hum Mutat , vol.20 , pp. 218-226
    • Casilli, F.1    Di Rocco, Z.C.2    Gad, S.3    Tournier, I.4    Stoppa-Lyonnet, D.5    Frebourg, T.6    Tosi, M.7
  • 7
    • 0036468254 scopus 로고    scopus 로고
    • MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer
    • Charbonnier F, Olschwang S, Wang Q, Boisson C, Martin C, Buisine MP, Puisieux A, Frebourg T. 2002. MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res 62:848-853.
    • (2002) Cancer Res , vol.62 , pp. 848-853
    • Charbonnier, F.1    Olschwang, S.2    Wang, Q.3    Boisson, C.4    Martin, C.5    Buisine, M.P.6    Puisieux, A.7    Frebourg, T.8
  • 8
    • 0035156478 scopus 로고    scopus 로고
    • Absence of rearrangements in the BRCA2 gene in human cancers
    • Chin SF, Wang Q, Puisieux A, Caldas C. 2001. Absence of rearrangements in the BRCA2 gene in human cancers. Br J Cancer 84:193-195.
    • (2001) Br J Cancer , vol.84 , pp. 193-195
    • Chin, S.F.1    Wang, Q.2    Puisieux, A.3    Caldas, C.4
  • 9
    • 0029980129 scopus 로고    scopus 로고
    • Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core
    • Couch FJ, Weber BL. 1996. Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core. Hum Mutat 8:8-18.
    • (1996) Hum Mutat , vol.8 , pp. 8-18
    • Couch, F.J.1    Weber, B.L.2
  • 14
    • 0034979536 scopus 로고    scopus 로고
    • Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing
    • Gad S, Scheuner MT, Pages-Berhouet S, Caux-Moncoutier V, Bensimon A, Aurias A, Pinto M, Stoppa-Lyonnet D. 2001b. Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing. J Med Genet 38:388-392.
    • (2001) J Med Genet , vol.38 , pp. 388-392
    • Gad, S.1    Scheuner, M.T.2    Pages-Berhouet, S.3    Caux-Moncoutier, V.4    Bensimon, A.5    Aurias, A.6    Pinto, M.7    Stoppa-Lyonnet, D.8
  • 21
    • 17144439453 scopus 로고    scopus 로고
    • Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method
    • Hofmann W, Gorgens H, John A, Horn D, Huttner C, Arnold N, Scherneck S, Schackert HK. 2003. Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method. Hum Mutat 22:103-104.
    • (2003) Hum Mutat , vol.22 , pp. 103-104
    • Hofmann, W.1    Gorgens, H.2    John, A.3    Horn, D.4    Huttner, C.5    Arnold, N.6    Scherneck, S.7    Schackert, H.K.8
  • 24
    • 0036778597 scopus 로고    scopus 로고
    • The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors
    • Kolomietz E, Meyn MS, Pandita A, Squire JA. 2002. The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors. Genes Chromosomes Cancer 35:97-112.
    • (2002) Genes Chromosomes Cancer , vol.35 , pp. 97-112
    • Kolomietz, E.1    Meyn, M.S.2    Pandita, A.3    Squire, J.A.4
  • 26
    • 0033358880 scopus 로고    scopus 로고
    • Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1
    • Liu X, Barker DF. 1999. Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1. Am J Hum Genet 64:1427-1439.
    • (1999) Am J Hum Genet , vol.64 , pp. 1427-1439
    • Liu, X.1    Barker, D.F.2
  • 30
    • 0038364017 scopus 로고    scopus 로고
    • Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families
    • Montagna M, Dalla Palma M, Menin C, Agata S, De Nicolo A, Chieco-Bianchi L, D'Andrea E. 2003. Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum Mol Genet 12:1055-1061.
    • (2003) Hum Mol Genet , vol.12 , pp. 1055-1061
    • Montagna, M.1    Dalla Palma, M.2    Menin, C.3    Agata, S.4    De Nicolo, A.5    Chieco-Bianchi, L.6    D'Andrea, E.7
  • 31
    • 0032054311 scopus 로고    scopus 로고
    • A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family
    • Nordling M, Karlsson P, Wahlstrom J, Engwall Y, Wallgren A, Martinsson T. 1998. A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family. Cancer Res 58:1372-1375.
    • (1998) Cancer Res , vol.58 , pp. 1372-1375
    • Nordling, M.1    Karlsson, P.2    Wahlstrom, J.3    Engwall, Y.4    Wallgren, A.5    Martinsson, T.6
  • 32
    • 0033865651 scopus 로고    scopus 로고
    • Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer
    • Payne SR, Newman B, King MC. 2000. Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer. Genes Chromosomes Cancer 29:58-62.
    • (2000) Genes Chromosomes Cancer , vol.29 , pp. 58-62
    • Payne, S.R.1    Newman, B.2    King, M.C.3
  • 34
    • 0036848138 scopus 로고    scopus 로고
    • The nonsense-media ted mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons
    • Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir GM, Mazoyer S. 2002. The nonsense-media ted mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum Mol Genet 11:2805-2814.
    • (2002) Hum Mol Genet , vol.11 , pp. 2805-2814
    • Perrin-Vidoz, L.1    Sinilnikova, O.M.2    Stoppa-Lyonnet, D.3    Lenoir, G.M.4    Mazoyer, S.5
  • 38
    • 0033556051 scopus 로고    scopus 로고
    • Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions
    • Puget N, Stoppa-Lyonnet D, Sinilnikova OM, Pages S, Lynch HT, Lenoir GM, Mazoyer S. 1999b. Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res 59:455-461.
    • (1999) Cancer Res , vol.59 , pp. 455-461
    • Puget, N.1    Stoppa-Lyonnet, D.2    Sinilnikova, O.M.3    Pages, S.4    Lynch, H.T.5    Lenoir, G.M.6    Mazoyer, S.7
  • 42
    • 2342578875 scopus 로고    scopus 로고
    • MLPA and MAPH: New techniques for detection of gene deletions
    • Sellner LN, Taylor GR. 2004. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 23:413-419.
    • (2004) Hum Mutat , vol.23 , pp. 413-419
    • Sellner, L.N.1    Taylor, G.R.2
  • 45
    • 0030869406 scopus 로고    scopus 로고
    • Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family
    • Swensen J, Hoffman M, Skolnick MH, Neuhausen SL. 1997. Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family. Hum Mol Genet 6:1513-1517.
    • (1997) Hum Mol Genet , vol.6 , pp. 1513-1517
    • Swensen, J.1    Hoffman, M.2    Skolnick, M.H.3    Neuhausen, S.L.4
  • 48
    • 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, Lenoir GM, Mazoyer S, Weber BL. 2000. 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 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    Lenoir, G.M.7    Mazoyer, S.8    Weber, B.L.9
  • 51
    • 0035057602 scopus 로고    scopus 로고
    • A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: A possible role of the Alu-polyA tail in the evolution of the deletion
    • Wang T, Lerer I, Gueta Z, Sagi M, Kadouri L, Peretz T, Abeliovich D. 2001. A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: a possible role of the Alu-polyA tail in the evolution of the deletion. Genes Chromosomes Cancer 31:91-95.
    • (2001) Genes Chromosomes Cancer , vol.31 , pp. 91-95
    • Wang, T.1    Lerer, I.2    Gueta, Z.3    Sagi, M.4    Kadouri, L.5    Peretz, T.6    Abeliovich, D.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.