메뉴 건너뛰기




Volumn 25, Issue 15, 2007, Pages 2027-2034

Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: Evidence for a founder effect and analysis of the associated phenotypes

Author keywords

[No Author keywords available]

Indexed keywords

BRCA2 PROTEIN;

EID: 34249932412     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.2006.06.9443     Document Type: Article
Times cited : (98)

References (37)
  • 1
    • 34250853351 scopus 로고    scopus 로고
    • Melcher U: Molecular genetics by Ulrich Melcher at Oklahoma State University: DNA rearrangements. http://opbs.okstate.edu/~melcher/MG/MGW3/MG32. html
    • Melcher U: Molecular genetics by Ulrich Melcher at Oklahoma State University: DNA rearrangements. http://opbs.okstate.edu/~melcher/MG/MGW3/MG32. html
  • 2
    • 18744401644 scopus 로고    scopus 로고
    • Genomic rearrangements in the BRCA1 and BRCA2 genes
    • Mazoyer S: Genomic rearrangements in the BRCA1 and BRCA2 genes. Hum Mutat 25:415-422, 2005
    • (2005) Hum Mutat , vol.25 , pp. 415-422
    • Mazoyer, S.1
  • 3
    • 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, et al: 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
    • (1998) Cancer Res , vol.58 , pp. 1372-1375
    • Nordling, M.1    Karlsson, P.2    Wahlstrom, J.3
  • 4
    • 8544240875 scopus 로고    scopus 로고
    • Significant contribution of germline BRCA2 rearrangements in male breast cancer families
    • Tournier I, Paillerets BB, Sobol H, et al: Significant contribution of germline BRCA2 rearrangements in male breast cancer families. Cancer Res 64:8143-8147, 2004
    • (2004) Cancer Res , vol.64 , pp. 8143-8147
    • Tournier, I.1    Paillerets, B.B.2    Sobol, H.3
  • 5
    • 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, et al: 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
    • (2001) Genes Chromosomes Cancer , vol.31 , pp. 91-95
    • Wang, T.1    Lerer, I.2    Gueta, Z.3
  • 6
    • 0030058209 scopus 로고    scopus 로고
    • Mutation analysis in the BRCA2 gene in primary breast cancers
    • Miki Y, Katagiri T, Kasumi F, et al: Mutation analysis in the BRCA2 gene in primary breast cancers. Nat Genet 13:245-247, 1996
    • (1996) Nat Genet , vol.13 , pp. 245-247
    • Miki, Y.1    Katagiri, T.2    Kasumi, F.3
  • 7
    • 33646035105 scopus 로고    scopus 로고
    • De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes
    • Teugels E, De Brakeleer S, Goelen G, et al: De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes. Hum Mutat 26:284, 2005
    • (2005) Hum Mutat , vol.26 , pp. 284
    • Teugels, E.1    De Brakeleer, S.2    Goelen, G.3
  • 8
    • 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, et al: 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
    • (2002) Hum Mutat , vol.20 , pp. 218-226
    • Casilli, F.1    Di Rocco, Z.C.2    Gad, S.3
  • 9
    • 0037380994 scopus 로고    scopus 로고
    • Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method
    • Hogervorst FB, Nederlof PM, Gille JJ, et al: Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res 63:1449-1453, 2003
    • (2003) Cancer Res , vol.63 , pp. 1449-1453
    • Hogervorst, F.B.1    Nederlof, P.M.2    Gille, J.J.3
  • 10
    • 16944363592 scopus 로고    scopus 로고
    • BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients
    • Petrij-Bosch A, Peelen T, van Vliet M, et al: BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 17:341-345, 1997
    • (1997) Nat Genet , vol.17 , pp. 341-345
    • Petrij-Bosch, A.1    Peelen, T.2    van Vliet, M.3
  • 11
    • 16944363862 scopus 로고    scopus 로고
    • Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: Frequency and differential penetrance in ovarian cancer and breast-ovarian cancer families
    • Levy-Lahad E, Catane R, Eisenberg S, et al: Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: Frequency and differential penetrance in ovarian cancer and breast-ovarian cancer families. Am J Hum Genet 60:1059-1067, 1997
    • (1997) Am J Hum Genet , vol.60 , pp. 1059-1067
    • Levy-Lahad, E.1    Catane, R.2    Eisenberg, S.3
  • 12
    • 0034468130 scopus 로고    scopus 로고
    • Founder populations and their uses for breast cancer genetics
    • Neuhausen S: Founder populations and their uses for breast cancer genetics. Breast Cancer Res 2:77-78, 2000
    • (2000) Breast Cancer Res , vol.2 , pp. 77-78
    • Neuhausen, S.1
  • 13
    • 17644444777 scopus 로고    scopus 로고
    • The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript
    • Vega A, Campos B, Bressac-de-Paillerets B, et al: The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat 17:520-521, 2001
    • (2001) Hum Mutat , vol.17 , pp. 520-521
    • Vega, A.1    Campos, B.2    Bressac-de-Paillerets, B.3
  • 14
    • 0035057806 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 and the genetics of breast and ovarian cancer
    • Welcsh PL, King MC: BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum Mol Genet 10:705-713, 2001
    • (2001) Hum Mol Genet , vol.10 , pp. 705-713
    • Welcsh, P.L.1    King, M.C.2
  • 15
    • 0031917403 scopus 로고    scopus 로고
    • Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2
    • Parmigiani G, Berry DA, Aguilar O: Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 62:145-158, 1998
    • (1998) Am J Hum Genet , vol.62 , pp. 145-158
    • Parmigiani, G.1    Berry, D.A.2    Aguilar, O.3
  • 16
    • 0031832541 scopus 로고    scopus 로고
    • Sequence analysis of BRCA1 and BRCA2: Correlation of mutations with family history and ovarian cancer risk
    • Frank TS, Manley SA, Olopade OI, et al: Sequence analysis of BRCA1 and BRCA2: Correlation of mutations with family history and ovarian cancer risk. J Clin Oncol 16:2417-2425, 1998
    • (1998) J Clin Oncol , vol.16 , pp. 2417-2425
    • Frank, T.S.1    Manley, S.A.2    Olopade, O.I.3
  • 18
    • 0027433113 scopus 로고
    • Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
    • Ganguly A, Rock MJ, Prockop DJ: Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci U S A 90:10325-10329, 1993
    • (1993) Proc Natl Acad Sci U S A , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 21
    • 0028819262 scopus 로고
    • Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
    • Risch N, de Leon D, Ozelius L, et al: Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 9:152-159, 1995
    • (1995) Nat Genet , vol.9 , pp. 152-159
    • Risch, N.1    de Leon, D.2    Ozelius, L.3
  • 22
    • 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: 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
    • (2000) Am J Hum Genet , vol.67 , pp. 207-212
  • 23
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen JT, Antonarakis SE: Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum Mutat 15:7-12, 2000
    • (2000) Hum Mutat , vol.15 , pp. 7-12
    • den Dunnen, J.T.1    Antonarakis, S.E.2
  • 24
    • 16244385227 scopus 로고    scopus 로고
    • National Center for Biotechnology Information:, BLAST
    • National Center for Biotechnology Information: Basic Local Alignment Search Tool (BLAST). http://ncbi.nlm.nih.gov/BLAST
    • Basic Local Alignment Search Tool
  • 25
    • 0028818892 scopus 로고
    • Sequence diversity and chromosomal distribution of "young" Alu repeats
    • Shaikh TH, Joomyeong K, Bennett L, et al: Sequence diversity and chromosomal distribution of "young" Alu repeats. Gene 163:273-278, 1995
    • (1995) Gene , vol.163 , pp. 273-278
    • Shaikh, T.H.1    Joomyeong, K.2    Bennett, L.3
  • 26
    • 0036250811 scopus 로고    scopus 로고
    • Alu repeats and human genomic diversity
    • Batzer MA, Deininger PL: Alu repeats and human genomic diversity. Nat Rev Genet 3:370-379, 2002
    • (2002) Nat Rev Genet , vol.3 , pp. 370-379
    • Batzer, M.A.1    Deininger, P.L.2
  • 27
    • 0030892642 scopus 로고    scopus 로고
    • Transcriptional activation functions in BRCA2
    • Milner JB, Ponder B, Hughes-Davies L, et al: Transcriptional activation functions in BRCA2. Nature 386:772-773, 1997
    • (1997) Nature , vol.386 , pp. 772-773
    • Milner, J.B.1    Ponder, B.2    Hughes-Davies, L.3
  • 28
    • 84855624246 scopus 로고    scopus 로고
    • National Human Genome Research Institute
    • National Human Genome Research Institute: Talking glossary of genetic terms. http://www.genome.gov/10002096
    • Talking glossary of genetic terms
  • 29
    • 10744224626 scopus 로고    scopus 로고
    • Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the Indian subcontinent with the identical mutation in the GHRH receptor
    • Wajnrajch MP, Gertner JM, Sokoloff AS, et al: Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the Indian subcontinent with the identical mutation in the GHRH receptor. Am J Med Genet A 120:77-83, 2003
    • (2003) Am J Med Genet A , vol.120 , pp. 77-83
    • Wajnrajch, M.P.1    Gertner, J.M.2    Sokoloff, A.S.3
  • 30
    • 0032989268 scopus 로고    scopus 로고
    • An estimated frequency of endogenous insertional mutations in humans
    • Kazazian HH Jr: An estimated frequency of endogenous insertional mutations in humans. Nat Genet 22:130, 1999
    • (1999) Nat Genet , vol.22 , pp. 130
    • Kazazian Jr, H.H.1
  • 31
  • 32
    • 0033523268 scopus 로고    scopus 로고
    • Cancer risks in BRCA2 mutation carriers
    • Breast Cancer Linkage Consortium
    • Breast Cancer Linkage Consortium: Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 91:1310-1316, 1999
    • (1999) J Natl Cancer Inst , vol.91 , pp. 1310-1316
  • 33
    • 1442307845 scopus 로고    scopus 로고
    • Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: A review of the literature
    • Liede A, Karlan BY, Narod SA: Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: A review of the literature. J Clin Oncol 22:735-742, 2004
    • (2004) J Clin Oncol , vol.22 , pp. 735-742
    • Liede, A.1    Karlan, B.Y.2    Narod, S.A.3
  • 34
    • 0037222306 scopus 로고    scopus 로고
    • Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene
    • Edwards SM, Kote-Jarai Z, Meitz J, et al: Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. Am J Hum Genet 72:1-12, 2003
    • (2003) Am J Hum Genet , vol.72 , pp. 1-12
    • Edwards, S.M.1    Kote-Jarai, Z.2    Meitz, J.3
  • 35
    • 0037037332 scopus 로고    scopus 로고
    • BRCA2 gene mutations in families with aggregations of breast and stomach cancers
    • Jakubowska A, Nej K, Huzarski T, et al: BRCA2 gene mutations in families with aggregations of breast and stomach cancers. Br J Cancer 87:888-891, 2002
    • (2002) Br J Cancer , vol.87 , pp. 888-891
    • Jakubowska, A.1    Nej, K.2    Huzarski, T.3
  • 36
    • 0030910022 scopus 로고    scopus 로고
    • The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews
    • Struewing JP, Hartge P, Wacholder S, et al: The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336:1401-1408, 1997
    • (1997) N Engl J Med , vol.336 , pp. 1401-1408
    • Struewing, J.P.1    Hartge, P.2    Wacholder, S.3
  • 37
    • 0035125062 scopus 로고    scopus 로고
    • Thompson D, Easton D: Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 68:410-419, 2001
    • Thompson D, Easton D: Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 68:410-419, 2001


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.