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Volumn 117, Issue 1, 2009, Pages 215-217

Molecular diagnosis of the Portuguese founder mutation BRCA2 c.156-157insAlu

Author keywords

[No Author keywords available]

Indexed keywords

BRCA2 PROTEIN;

EID: 69049087994     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-008-0214-z     Document Type: Letter
Times cited : (7)

References (10)
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    • Caution should be taken in the methodology used to confirm c.156-157insAlu BRCA2 mutation
    • (Epub ahead of print Jul 17, 2008). doi: 10.1007/s10549-008-0124-0
    • Machado P, Vaz F (2008) Caution should be taken in the methodology used to confirm c.156-157insAlu BRCA2 mutation. Breast Cancer Res Treat (Epub ahead of print Jul 17, 2008). doi: 10.1007/s10549-008-0124-0
    • (2008) Breast Cancer Res Treat
    • Machado, P.1    Vaz, F.2
  • 2
    • 58849092856 scopus 로고    scopus 로고
    • The c.156-157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal
    • (Epub ahead of print Mar 25, 2008). doi: 10.1007/s10549-008-9978-4
    • Peixoto A, Santos C, Rocha P et al (2008) The c.156-157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal. Breast Cancer Res Treat (Epub ahead of print Mar 25, 2008). doi: 10.1007/s10549-008-9978-4
    • (2008) Breast Cancer Res Treat
    • Peixoto, A.1    Santos, C.2    Rocha, P.3
  • 3
    • 33646035105 scopus 로고    scopus 로고
    • De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes
    • 10.1002/humu.9366
    • E Teugels S De Brakeleer G Goelen 2005 De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes Hum Mutat 26 284 10.1002/humu.9366
    • (2005) Hum Mutat , vol.26 , pp. 284
    • Teugels, E.1    De Brakeleer, S.2    Goelen, G.3
  • 4
    • 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
    • 10.1200/JCO.2006.06.9443
    • PM Machado RD Brandao BM Cavaco et al. 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 10.1200/JCO.2006.06.9443
    • (2007) J Clin Oncol , vol.25 , pp. 2027-2034
    • MacHado, P.M.1    Brandao, R.D.2    Cavaco, B.M.3
  • 5
    • 10744232814 scopus 로고    scopus 로고
    • Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects
    • 10.1002/humu.10260
    • O Díez A Osorio M Durán et al. 2003 Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects Hum Mutat 22 301 312 10.1002/humu.10260
    • (2003) Hum Mutat , vol.22 , pp. 301-312
    • Díez, O.1    Osorio, A.2    Durán, M.3
  • 6
    • 33745728357 scopus 로고    scopus 로고
    • A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: Application in a Dutch cancer clinic setting
    • 10.1002/humu.20340
    • AH van der Hout AM van den Ouweland RB van der Luijt et al. 2006 A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting Hum Mutat 27 654 666 10.1002/humu.20340
    • (2006) Hum Mutat , vol.27 , pp. 654-666
    • Van Der Hout, A.H.1    Van Den Ouweland, A.M.2    Van Der Luijt, R.B.3
  • 7
    • 69049093903 scopus 로고    scopus 로고
    • Human Genome Variation Society (HGVS). http://www.hgvs.org/
  • 8
    • 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
    • M Nordling P Karlsson J Wahlstrom et al. 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
  • 9
    • 0033093902 scopus 로고    scopus 로고
    • Structure and expression of variant BRCA2a lacking the transactivation domain
    • J Zou Y Hirose H Siddique et al. 1999 Structure and expression of variant BRCA2a lacking the transactivation domain Oncol Rep 6 437 440
    • (1999) Oncol Rep , vol.6 , pp. 437-440
    • Zou, J.1    Hirose, Y.2    Siddique, H.3
  • 10
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    • Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene
    • 10.1136/jmg.2007.056895
    • C Bonnet S Krieger M Vezain et al. 2008 Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene J Med Genet 45 438 446 10.1136/jmg.2007.056895
    • (2008) J Med Genet , vol.45 , pp. 438-446
    • Bonnet, C.1    Krieger, S.2    Vezain, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.