메뉴 건너뛰기




Volumn 32, Issue 3, 2009, Pages 437-446

Genomic rearrangements in BRCA1 and BRCA2: A literature review

Author keywords

BRCA1; BRCA2; Breast cancer; Genomic rearrangements; MLPA

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 69949110747     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572009005000049     Document Type: Review
Times cited : (86)

References (58)
  • 2
    • 0036409283 scopus 로고    scopus 로고
    • The detection of large deletions or duplications in genomic DNA
    • Armour JA, Barton DE, Cockburn DJ and 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
  • 3
    • 0030447834 scopus 로고    scopus 로고
    • The BRCA1 and 1A1.3B promoters are parallel elements of a genomic duplication at 17q21
    • Barker DF, Liu X and Almeida ER (1996) The BRCA1 and 1A1.3B promoters are parallel elements of a genomic duplication at 17q21. Genomics 38:215-222.
    • (1996) Genomics , vol.38 , pp. 215-222
    • Barker, D.F.1    Liu, X.2    Almeida, E.R.3
  • 5
  • 6
    • 45149101322 scopus 로고    scopus 로고
    • Southern blotting. Curr Protoc Immunol
    • Chapter 10: Unit 10.6A
    • Brown T (2001) Southern blotting. Curr Protoc Immunol Chapter 10: Unit 10.6A.
    • (2001)
    • Brown, T.1
  • 9
    • 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 and 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
  • 10
    • 0035156478 scopus 로고    scopus 로고
    • Absence of rearrangements in the BRCA2 gene in human cancers
    • Chin SF, Wang Q, Puisieux A and 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
  • 12
    • 44649092893 scopus 로고    scopus 로고
    • MLPA and MAPH: Sensitive detection of deletions and duplications
    • Unit 7.14
    • Dunnen den JT and White SJ (2006) MLPA and MAPH: Sensitive detection of deletions and duplications. Curr Protoc Hum Genet Chapter 7: Unit 7.14.
    • (2006) Curr Protoc Hum Genet Chapter , vol.7
    • Dunnen den, J.T.1    White, S.J.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 and Stoppa-Lyonnet D (2001) 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
  • 17
    • 34247490187 scopus 로고    scopus 로고
    • Gutierrez-Enriquez S, de la Hoya M, Martínez-Bouzas C, Sanchez de Abajo A, Ramón y Cajal T, Llort G, Blanco I, Beristain E, Díaz-Rubio E, Alonso C, et al. (2007) Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer. Breast Cancer Res Treat 103:103-107.
    • Gutierrez-Enriquez S, de la Hoya M, Martínez-Bouzas C, Sanchez de Abajo A, Ramón y Cajal T, Llort G, Blanco I, Beristain E, Díaz-Rubio E, Alonso C, et al. (2007) Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer. Breast Cancer Res Treat 103:103-107.
  • 20
    • 34547702653 scopus 로고    scopus 로고
    • The protein truncation test in mutation detection and molecular diagnosis
    • Hauss O and Müller O (2007) The protein truncation test in mutation detection and molecular diagnosis. Methods Mol Biol 375:151-164.
    • (2007) Methods Mol Biol , vol.375 , pp. 151-164
    • Hauss, O.1    Müller, O.2
  • 22
    • 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 and 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 and 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
    • 34247563394 scopus 로고    scopus 로고
    • Identification of novel BRCA large genomic rearrangements in Singapore Asian breast and ovarian patients with cancer
    • Lim YK, Lau PT, Ali AB, Lee SC, Wong JE, Putti TC and Sng JH (2007) Identification of novel BRCA large genomic rearrangements in Singapore Asian breast and ovarian patients with cancer. Clin Genet 71:331-342.
    • (2007) Clin Genet , vol.71 , pp. 331-342
    • Lim, Y.K.1    Lau, P.T.2    Ali, A.B.3    Lee, S.C.4    Wong, J.E.5    Putti, T.C.6    Sng, J.H.7
  • 27
    • 34249932412 scopus 로고    scopus 로고
    • Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: Evidence for a founder effect and analysis of the associated phenotypes
    • Machado PM, Brandao RD, Cavaco BM, Eugenio J, Bento S, Nave M, Rodrigues P, Fernandes A and Vaz F (2007) Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: Evidence for a founder effect and analysis of the associated phenotypes. J Clin Oncol 25:2027-2034.
    • (2007) J Clin Oncol , vol.25 , pp. 2027-2034
    • Machado, P.M.1    Brandao, R.D.2    Cavaco, B.M.3    Eugenio, J.4    Bento, S.5    Nave, M.6    Rodrigues, P.7    Fernandes, A.8    Vaz, F.9
  • 28
    • 18744401644 scopus 로고    scopus 로고
    • Genomic rearrangements in the BRCA1 and BRCA2 genes
    • Mazoyer S (2005) Genomic rearrangements in the BRCA1 and BRCA2 genes. Hum Mutat 25:415-422.
    • (2005) Hum Mutat , vol.25 , pp. 415-422
    • Mazoyer, S.1
  • 31
    • 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 PM, Menin C, Agata S, De NA, Chieco-Bianchi L and 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, P.M.2    Menin, C.3    Agata, S.4    De, N.A.5    Chieco-Bianchi, L.6    D'Andrea, E.7
  • 32
    • 42149091620 scopus 로고    scopus 로고
    • From cytogenetics to next-generation sequencing technologies: Advances in the detection of genome rearrangements in tumors
    • Morozova O and Marra MA (2008) From cytogenetics to next-generation sequencing technologies: Advances in the detection of genome rearrangements in tumors. Biochem Cell Biol 86:81-91.
    • (2008) Biochem Cell Biol , vol.86 , pp. 81-91
    • Morozova, O.1    Marra, M.A.2
  • 33
    • 4544374528 scopus 로고    scopus 로고
    • BRCA1 and BRCA2: 1994 and beyond
    • Narod SA and Foulkes WD (2004) BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 4:665-676.
    • (2004) Nat Rev Cancer , vol.4 , pp. 665-676
    • Narod, S.A.1    Foulkes, W.D.2
  • 34
    • 33749039966 scopus 로고    scopus 로고
    • The CHEK2 gene and inherited breast cancer susceptibility
    • Nevanlinna H and Bartek J (2006) The CHEK2 gene and inherited breast cancer susceptibility. Oncogene 25:5912-5919.
    • (2006) Oncogene , vol.25 , pp. 5912-5919
    • Nevanlinna, H.1    Bartek, J.2
  • 35
    • 9544220659 scopus 로고    scopus 로고
    • Evolution of the tumor suppressor BRCA1 locus in primates: Implications for cancer predisposition
    • Pavlicek A, Noskov VN, Kouprina N, Barrett JC, Jurka J and Larionov V (2004) Evolution of the tumor suppressor BRCA1 locus in primates: Implications for cancer predisposition. Hum Mol Genet 13:2737-2751.
    • (2004) Hum Mol Genet , vol.13 , pp. 2737-2751
    • Pavlicek, A.1    Noskov, V.N.2    Kouprina, N.3    Barrett, J.C.4    Jurka, J.5    Larionov, V.6
  • 38
    • 0036848138 scopus 로고    scopus 로고
    • The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNA bearing premature termination codons
    • Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir Gilbert M and Mazoyer S (2002) The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNA bearing premature termination codons. Human Mol Genet 11:2805-2814.
    • (2002) Human Mol Genet , vol.11 , pp. 2805-2814
    • Perrin-Vidoz, L.1    Sinilnikova, O.M.2    Stoppa-Lyonnet, D.3    Lenoir Gilbert, M.4    Mazoyer, S.5
  • 40
    • 33744906322 scopus 로고    scopus 로고
    • Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin
    • Preisler-Adams S, Schonbuchner I, Fiebig B, Welling B, Dworniczak B and Weber BH (2006) Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin. Cancer Genet Cytogenet 168:44-49.
    • (2006) Cancer Genet Cytogenet , vol.168 , pp. 44-49
    • Preisler-Adams, S.1    Schonbuchner, I.2    Fiebig, B.3    Welling, B.4    Dworniczak, B.5    Weber, B.H.6
  • 41
    • 0033556051 scopus 로고    scopus 로고
    • Screening for germline 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 and Mazoyer S (1999) Screening for germline 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
  • 44
    • 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, Nogues C, Bieche I and Lidereau R (2007) High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1. Clin Genet 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    Nogues, C.7    Bieche, I.8    Lidereau, R.9
  • 47
    • 42049084015 scopus 로고    scopus 로고
    • Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH)
    • Staaf J, Törngren T, Rambech E, Johansson U, Persson C, Sellberg G, Tellhed L, Nilbert M and Borg A (2008) Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH). Hum Mutat 29:555-564.
    • (2008) Hum Mutat , vol.29 , pp. 555-564
    • Staaf, J.1    Törngren, T.2    Rambech, E.3    Johansson, U.4    Persson, C.5    Sellberg, G.6    Tellhed, L.7    Nilbert, M.8    Borg, A.9
  • 51
    • 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 and 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
  • 52
    • 0022293979 scopus 로고
    • Processed pseudogenes: Characteristics and evolution
    • Vanin EF (1985) Processed pseudogenes: Characteristics and evolution. Annu Rev Genet 19:253-272.
    • (1985) Annu Rev Genet , vol.19 , pp. 253-272
    • Vanin, E.F.1
  • 54
    • 33846850422 scopus 로고    scopus 로고
    • Ten genes for inherited breast cancer
    • Walsh T and King MC (2007) Ten genes for inherited breast cancer. Cancer Cell 11:103-105.
    • (2007) Cancer Cell , vol.11 , pp. 103-105
    • Walsh, T.1    King, M.C.2
  • 56
    • 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 and 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
  • 58
    • 33645106126 scopus 로고    scopus 로고
    • Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families
    • Woodward AM, Davis TA, Silva AG, Kirk JA and Leary JA (2005) Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. J Med Genet 42:e31.
    • (2005) J Med Genet , vol.42
    • Woodward, A.M.1    Davis, T.A.2    Silva, A.G.3    Kirk, J.A.4    Leary, J.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.