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Volumn 29, Issue 7, 2008, Pages 948-958

MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: Novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases

Author keywords

BRCA1 mutation spectra and prevalence; Hereditary breast and ovarian cancer; Large genomic rearrangements; Multiplex ligation dependent probe amplification

Indexed keywords

CHECKPOINT KINASE 2;

EID: 46749157576     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20723     Document Type: Article
Times cited : (81)

References (37)
  • 2
    • 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
    • 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
  • 3
    • 0001558720 scopus 로고    scopus 로고
    • An in-frame deletion of BRCA1 exon 20 in a family with early onset breast 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 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
  • 4
    • 3042582651 scopus 로고    scopus 로고
    • CHEK2 1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies
    • CHEK2 Breast Cancer Case-Control Consortium
    • CHEK2 Breast Cancer Case-Control Consortium. 2004. CHEK2 1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 74:1175-1182.
    • (2004) Am J Hum Genet , vol.74 , pp. 1175-1182
  • 9
    • 0029939505 scopus 로고    scopus 로고
    • Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations
    • Durocher F, Shattuck-Eidens D, McClure M, Labrie F, Skolnick MH, Goldgar DE, Simard J. 1996. Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations. Hum Mol Genet 5:835-842.
    • (1996) Hum Mol Genet , vol.5 , pp. 835-842
    • Durocher, F.1    Shattuck-Eidens, D.2    McClure, M.3    Labrie, F.4    Skolnick, M.H.5    Goldgar, D.E.6    Simard, J.7
  • 11
    • 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-Montcoutier V, Bensimon A, Aurias A, Pinto M, Stoppa-Lyonet 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-Montcoutier, V.4    Bensimon, A.5    Aurias, A.6    Pinto, M.7    Stoppa-Lyonet, D.8
  • 17
    • 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, Görgens H, John A, Horn D, Hüttner 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    Görgens, H.2    John, A.3    Horn, D.4    Hüttner, C.5    Arnold, N.6    Scherneck, S.7    Schackert, H.K.8
  • 20
    • 34247563394 scopus 로고    scopus 로고
    • Identification of novel BRCA large genomic rearrangements in Singapore Asian breast and ovarian patients with cancer
    • Lim YK, Iau PTC, Ali AB, Lee SC, Wong JE-L, Putti TC, Sng J-H. 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    Iau, P.T.C.2    Ali, A.B.3    Lee, S.C.4    Wong, J.E.-L.5    Putti, T.C.6    Sng, J.-H.7
  • 21
    • 18744401644 scopus 로고    scopus 로고
    • Genomic rearrangements in the BRCA1 and BRCA2 genes
    • Mayozer S. 2005. Genomic rearrangements in the BRCA1 and BRCA2 genes. Hum Mutat 25:415-422.
    • (2005) Hum Mutat , vol.25 , pp. 415-422
    • Mayozer, S.1
  • 22
    • 0036466858 scopus 로고    scopus 로고
    • Meindl A, German Consortium for Hereditary Breast and Ovarian Cancer (GCHBOC) 2002. Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int J Cancer 97:472-480.
    • Meindl A, German Consortium for Hereditary Breast and Ovarian Cancer (GCHBOC) 2002. Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int J Cancer 97:472-480.
  • 24
    • 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, DeNicolo 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    DeNicolo, A.5    Chieco-Bianchi, L.6    D'Andrea, E.7
  • 25
    • 0036848138 scopus 로고    scopus 로고
    • The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons
    • Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet, Lenoir GM, Mayozer S. 2002. The nonsense-mediated 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    Lyonnet, S.3    Lenoir, G.M.4    Mayozer, S.5
  • 27
    • 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 A, Schönbuchner I, Fiebig B, Welling B, Dworniczak B, Weber BHF. 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, A.1    Schönbuchner, I.2    Fiebig, B.3    Welling, B.4    Dworniczak, B.5    Weber, B.H.F.6
  • 28
    • 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, Mayozer 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    Mayozer, S.7
  • 31
    • 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
  • 37
    • 33645106126 scopus 로고    scopus 로고
    • Woodward AM, Davis TA, Silva AGS, kConFab Investigators, Kirk JA, 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.
    • Woodward AM, Davis TA, Silva AGS, kConFab Investigators, Kirk JA, 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.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.