메뉴 건너뛰기




Volumn 71, Issue 4, 2007, Pages 331-342

Identification of novel BRCA large genomic rearrangements in Singapore Asian breast and ovarian patients with cancer

Author keywords

Asian population; BRCA1; BRCA2; Breast ovarian cancer; Genomic rearrangements

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 34247563394     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00773.x     Document Type: Article
Times cited : (47)

References (63)
  • 1
    • 0030893779 scopus 로고    scopus 로고
    • Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium
    • Burke W, Daly M, Garber J et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA 1997: 277: 997-1003.
    • (1997) JAMA , vol.277 , pp. 997-1003
    • Burke, W.1    Daly, M.2    Garber, J.3
  • 2
    • 21144436491 scopus 로고    scopus 로고
    • Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ ovarian cancer families
    • Hendrickson BC, Judkins T, Ward BD et al. Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families. Genes Chromosomes Cancer 2005: 43: 309-313.
    • (2005) Genes Chromosomes Cancer , vol.43 , pp. 309-313
    • Hendrickson, B.C.1    Judkins, T.2    Ward, B.D.3
  • 3
    • 33645084562 scopus 로고    scopus 로고
    • Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP5 3 in families at high risk of breast cancer
    • Walsh T, Casadei S, Coats KH et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP5 3 in families at high risk of breast cancer. JAMA 2006: 295: 1379-1388.
    • (2006) JAMA , vol.295 , pp. 1379-1388
    • Walsh, T.1    Casadei, S.2    Coats, K.H.3
  • 4
    • 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 2005: 25: 415-422.
    • (2005) Hum Mutat , vol.25 , pp. 415-422
    • Mazoyer, S.1
  • 5
    • 0036605379 scopus 로고    scopus 로고
    • BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes
    • Berry DA, Iversen ES Jr, Gudbjartsson DF et al. BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol 2002: 20: 2701-2712.
    • (2002) J Clin Oncol , vol.20 , pp. 2701-2712
    • Berry, D.A.1    Iversen Jr., E.S.2    Gudbjartsson, D.F.3
  • 6
    • 0037087536 scopus 로고    scopus 로고
    • Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10000 individuals
    • Frank TS, Deffenbaugh AM, Reid JE et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10000 individuals. J Clin Oncol 2002: 20: 1480-1490.
    • (2002) J Clin Oncol , vol.20 , pp. 1480-1490
    • Frank, T.S.1    Deffenbaugh, A.M.2    Reid, J.E.3
  • 7
    • 0033965408 scopus 로고    scopus 로고
    • The prevalence of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives
    • Sng JH, Chang J, Feroze F et al. The prevalence of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives. Br J Cancer 2000: 82: 538-542.
    • (2000) Br J Cancer , vol.82 , pp. 538-542
    • Sng, J.H.1    Chang, J.2    Feroze, F.3
  • 8
    • 0242335650 scopus 로고    scopus 로고
    • BRCA1 c.2845insA is a recurring mutation with a founder effect in Singapore Malay women with early onset breast/ovarian cancer
    • Sng JH, Ali AB, Lee SC et al. BRCA1 c.2845insA is a recurring mutation with a founder effect in Singapore Malay women with early onset breast/ ovarian cancer. J Med Genet 2003: 40: e117.
    • (2003) J Med Genet , vol.40
    • Sng, J.H.1    Ali, A.B.2    Lee, S.C.3
  • 9
    • 0016253104 scopus 로고
    • Familial association of carcinoma of the breast and ovary
    • Lynch HT, Guirgis HA, Albert S et al. Familial association of carcinoma of the breast and ovary. Surg Gynecol Obstet 1974: 138: 717-724.
    • (1974) Surg Gynecol Obstet , vol.138 , pp. 717-724
    • Lynch, H.T.1    Guirgis, H.A.2    Albert, S.3
  • 10
    • 0029864134 scopus 로고    scopus 로고
    • Statement of the American Society of Clinical Oncology: Genetic testing for cancer susceptibility, Adopted on February 20
    • American Society of Clinical Oncology. discussion 1737-1740
    • American Society of Clinical Oncology. Statement of the American Society of Clinical Oncology: Genetic testing for cancer susceptibility, Adopted on February 20. J Clin Oncol 1996: 14: 1730-1736; discussion 1737-1740.
    • (1996) J Clin Oncol , vol.14 , pp. 1730-1736
  • 11
    • 0004136246 scopus 로고    scopus 로고
    • Isolation of high-molecular with DNA from mammalian cells
    • In: 3rd edn. New York: Cold Spring Harbor Laboratory Press 2001
    • Sambrook J, Russell DW. Isolation of high-molecular with DNA from mammalian cells. In: Molecular cloning a laboratory manual, 3rd edn. New York: Cold Spring Harbor Laboratory Press 2001.
    • (2001) Molecular Cloning a Laboratory Manual
    • Sambrook, J.1    Russell, D.W.2
  • 12
    • 0033909581 scopus 로고    scopus 로고
    • The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations
    • The BRCA1 Exon 13 Duplication Screening Group
    • The 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 2000: 67: 207-212.
    • (2000) Am J Hum Genet , vol.67 , pp. 207-212
  • 13
    • 0031035045 scopus 로고    scopus 로고
    • A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17
    • Puget N, Torchard D, Serova-Sinilnikova OM et al. A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Res 1997: 57: 828-831.
    • (1997) Cancer Res , vol.57 , pp. 828-831
    • Puget, N.1    Torchard, D.2    Serova-Sinilnikova, O.M.3
  • 14
    • 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 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. A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family. Cancer Res 1998: 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
  • 15
    • 0030852505 scopus 로고    scopus 로고
    • BRCA1 sequence analysis in women at high risk for susceptibility mutations
    • Shattuck-Eidens D, Oliphant A, McClure M et al. BRCA1 sequence analysis in women at high risk for susceptibility mutations. JAMA 1997: 278: 1242-1250.
    • (1997) JAMA , vol.278 , pp. 1242-1250
    • Shattuck-Eidens, D.1    Oliphant, A.2    McClure, M.3
  • 16
    • 0029804093 scopus 로고    scopus 로고
    • Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1
    • Smith TM, Lee MK, Szabo CI et al. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res 1996: 6: 1029-1049.
    • (1996) Genome Res , vol.6 , pp. 1029-1049
    • Smith, T.M.1    Lee, M.K.2    Szabo, C.I.3
  • 17
    • 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 et al. Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum Mol Genet 2003: 12: 1055-1061.
    • (2003) Hum Mol Genet , vol.12 , pp. 1055-1061
    • Montagna, M.1    Dalla Palma, M.2    Menin, C.3
  • 18
    • 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 et al. 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 2000: 67: 841-850.
    • (2000) Am J Hum Genet , vol.67 , pp. 841-850
    • Unger, M.A.1    Nathanson, K.L.2    Calzone, K.3
  • 19
    • 0035057199 scopus 로고    scopus 로고
    • Color bar coding the BRCA1 gene on combed DNA: A useful strategy for detecting large gene rearrangements
    • Gad S, Aurias A, Puget N et al. Color bar coding the BRCA1 gene on combed DNA: A useful strategy for detecting large gene rearrangements. Genes Chromosomes Cancer 2001: 31: 75-84.
    • (2001) Genes Chromosomes Cancer , vol.31 , pp. 75-84
    • Gad, S.1    Aurias, A.2    Puget, N.3
  • 20
    • 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 2002: 20: 218-226.
    • (2002) Hum Mutat , vol.20 , pp. 218-226
    • Casilli, F.1    Di Rocco, Z.C.2    Gad, S.3
  • 21
    • 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. Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families. Clin Genet 2004: 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
  • 22
    • 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 2003: 63: 1449-1453.
    • (2003) Cancer Res , vol.63 , pp. 1449-1453
    • Hogervorst, F.B.1    Nederlof, P.M.2    Gille, J.J.3
  • 23
    • 0031135862 scopus 로고    scopus 로고
    • LINEs and Alus-the polyA connection
    • Boeke JD. LINEs and Alus-the polyA connection. Nat Genet 1997: 16: 6-7.
    • (1997) Nat Genet , vol.16 , pp. 6-7
    • Boeke, J.D.1
  • 25
    • 17344370076 scopus 로고    scopus 로고
    • The impact of L1 retrotransposons on the human genome
    • Kazazian HH Jr, Moran JV. The impact of L1 retrotransposons on the human genome. Nat Genet 1998: 19: 19-24.
    • (1998) Nat Genet , vol.19 , pp. 19-24
    • Kazazian Jr., H.H.1    Moran, J.V.2
  • 26
    • 33746907114 scopus 로고    scopus 로고
    • Detection of a novel Alu-mediated BRCA1 exon 13 duplication in Chinese breast cancer patients and implications for genetic testing
    • Yap KP, Ang P, Lim IK, Ho G, Lee AG. Detection of a novel Alu-mediated BRCA1 exon 13 duplication in Chinese breast cancer patients and implications for genetic testing. Clin Genet 2006: 70: 80-82.
    • (2006) Clin Genet , vol.70 , pp. 80-82
    • Yap, K.P.1    Ang, P.2    Lim, I.K.3    Ho, G.4    Lee, A.G.5
  • 27
    • 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. Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family. Hum Mol Genet 1997: 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
  • 28
    • 0036206745 scopus 로고    scopus 로고
    • Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot
    • Puget N, Gad S, Perrin-Vidoz L et al. Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot. Am J Hum Genet 2002: 70: 858-865.
    • (2002) Am J Hum Genet , vol.70 , pp. 858-865
    • Puget, N.1    Gad, S.2    Perrin-Vidoz, L.3
  • 29
    • 0036201048 scopus 로고    scopus 로고
    • Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1: psi BRCA1 recombination
    • Brown MA, Lo LJ, Catteau A et al. Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1: Psi BRCA1 recombination. Hum Mutat 2002: 19: 435-442.
    • (2002) Hum Mutat , vol.19 , pp. 435-442
    • Brown, M.A.1    Lo, L.J.2    Catteau, A.3
  • 30
    • 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, Weber BH. 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 2006: 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
  • 31
    • 33746795547 scopus 로고    scopus 로고
    • Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA 2 point mutations
    • Agata S, Viel A, Puppa LD et al. Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA 2 point mutations. Genes Chromosomes Cancer 2006: 45: 791-797.
    • (2006) Genes Chromosomes Cancer , vol.45 , pp. 791-797
    • Agata, S.1    Viel, A.2    Puppa, L.D.3
  • 32
    • 28744446802 scopus 로고    scopus 로고
    • Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families
    • Hartmann C, John AL, Klaes R et al. Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families. Hum Mutat 2004: 24: 534.
    • (2004) Hum Mutat , vol.24 , pp. 534
    • Hartmann, C.1    John, A.L.2    Klaes, R.3
  • 33
    • 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 et al. Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res 1999: 59: 455-461.
    • (1999) Cancer Res , vol.59 , pp. 455-461
    • Puget, N.1    Stoppa-Lyonnet, D.2    Sinilnikova, O.M.3
  • 34
    • 5044227573 scopus 로고    scopus 로고
    • Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification
    • Bunyan DJ, Eccles DM, Sillibourne J et al. Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br J Cancer 2004: 91: 1155-1159.
    • (2004) Br J Cancer , vol.91 , pp. 1155-1159
    • Bunyan, D.J.1    Eccles, D.M.2    Sillibourne, J.3
  • 35
    • 1242347925 scopus 로고    scopus 로고
    • Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family
    • Gad S, Bieche I, Barrois M et al. Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family. Hum Mutat 2003: 21: 654.
    • (2003) Hum Mutat , vol.21 , pp. 654
    • Gad, S.1    Bieche, I.2    Barrois, M.3
  • 36
    • 33746640064 scopus 로고    scopus 로고
    • Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer
    • de la Hoya M, Gutierrez-Enriquez S, Velasco E et al. Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ ovarian cancer. Clin Chem 2006: 52: 1480-1485.
    • (2006) Clin Chem , vol.52 , pp. 1480-1485
    • de la Hoya, M.1    Gutierrez-Enriquez, S.2    Velasco, E.3
  • 37
    • 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, Leary JA. Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. J Med Genet 2005: 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
  • 38
    • 0033865651 scopus 로고    scopus 로고
    • Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer
    • Payne SR, Newman B, King MC. Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer. Genes Chromosomes Cancer 2000: 29: 58-62.
    • (2000) Genes Chromosomes Cancer , vol.29 , pp. 58-62
    • Payne, S.R.1    Newman, B.2    King, M.C.3
  • 39
    • 33845540070 scopus 로고    scopus 로고
    • Low prevalence of BRCA1 exon rearrangements in familial and young sporadic breast cancer patients
    • Ellis D, Patel Y, Yau SC, Hodgson SV, Abbs SJ. Low prevalence of BRCA1 exon rearrangements in familial and young sporadic breast cancer patients. Fam Cancer 2006: 5: 323-326.
    • (2006) Fam Cancer , vol.5 , pp. 323-326
    • Ellis, D.1    Patel, Y.2    Yau, S.C.3    Hodgson, S.V.4    Abbs, S.J.5
  • 40
    • 18644382608 scopus 로고    scopus 로고
    • Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families
    • Gad S, Caux-Moncoutier V, Pages-Berhouet S et al. Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families. Oncogene 2002: 21: 6841-6847.
    • (2002) Oncogene , vol.21 , pp. 6841-6847
    • Gad, S.1    Caux-Moncoutier, V.2    Pages-Berhouet, S.3
  • 42
    • 18744438556 scopus 로고    scopus 로고
    • An Alu -mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10
    • Rohlfs EM, Puget N, Graham ML et al. An Alu -mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10. Genes Chromosomes Cancer 2000: 28: 300-307.
    • (2000) Genes Chromosomes Cancer , vol.28 , pp. 300-307
    • Rohlfs, E.M.1    Puget, N.2    Graham, M.L.3
  • 43
    • 33845528114 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families
    • Peixoto A, Salgueiro N, Santos C et al. BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families. Fam Cancer 2006: 5: 379-387.
    • (2006) Fam Cancer , vol.5 , pp. 379-387
    • Peixoto, A.1    Salgueiro, N.2    Santos, C.3
  • 44
    • 0033360968 scopus 로고    scopus 로고
    • An Alu -mediated 6-kb duplication in the BRCA1 gene: A new founder mutation?
    • Puget N, Sinilnikova OM, Stoppa-Lyonnet D et al. An Alu -mediated 6-kb duplication in the BRCA1 gene: A new founder mutation? Am J Hum Genet 1999: 64: 300-302.
    • (1999) Am J Hum Genet , vol.64 , pp. 300-302
    • Puget, N.1    Sinilnikova, O.M.2    Stoppa-Lyonnet, D.3
  • 45
    • 0034102287 scopus 로고    scopus 로고
    • Exon deletions and duplications in BRCA1 detected by semiquantitative PCR
    • Robinson MD, Chu CE, Turner G, Bishop DT, Taylor GR. Exon deletions and duplications in BRCA1 detected by semiquantitative PCR. Genet Test 2000: 4: 49-54.
    • (2000) Genet Test , vol.4 , pp. 49-54
    • Robinson, M.D.1    Chu, C.E.2    Turner, G.3    Bishop, D.T.4    Taylor, G.R.5
  • 46
    • 12144286236 scopus 로고    scopus 로고
    • Are medullary breast cancers an indication for BRCA1 mutation screening? A mutation analysis of 42 cases of medullary breast cancer
    • Iau PT, Marafie M, Ali A et al. Are medullary breast cancers an indication for BRCA1 mutation screening? A mutation analysis of 42 cases of medullary breast cancer. Breast Cancer Res Treat 2004: 85: 81-88.
    • (2004) Breast Cancer Res Treat , vol.85 , pp. 81-88
    • Iau, P.T.1    Marafie, M.2    Ali, A.3
  • 48
    • 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 et al. Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method. Hum Mutat 2003: 22: 103-104.
    • (2003) Hum Mutat , vol.22 , pp. 103-104
    • Hofmann, W.1    Gorgens, H.2    John, A.3
  • 49
    • 21244505115 scopus 로고    scopus 로고
    • The BRCA1 exon 13 duplication in the Swedish population
    • Kremeyer B, Soller M, Lagerstedt K et al. The BRCA1 exon 13 duplication in the Swedish population. Fam Cancer 2005: 4: 191-194.
    • (2005) Fam Cancer , vol.4 , pp. 191-194
    • Kremeyer, B.1    Soller, M.2    Lagerstedt, K.3
  • 50
    • 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 1997: 17: 341-345.
    • (1997) Nat Genet , vol.17 , pp. 341-345
    • Petrij-Bosch, A.1    Peelen, T.2    van Vliet, M.3
  • 51
    • 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 et al. 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 2001: 38: 388-392.
    • (2001) J Med Genet , vol.38 , pp. 388-392
    • Gad, S.1    Scheuner, M.T.2    Pages-Berhouet, S.3
  • 52
    • 4644278811 scopus 로고    scopus 로고
    • Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: Characterization of a 19.9 KBP deletion
    • Tancredi M, Sensi E, Cipollini G et al. Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: Characterization of a 19.9 KBP deletion. Eur J Hum Genet 2004: 12: 775-777.
    • (2004) Eur J Hum Genet , vol.12 , pp. 775-777
    • Tancredi, M.1    Sensi, E.2    Cipollini, G.3
  • 53
    • 14644435051 scopus 로고    scopus 로고
    • A multi-exonic BRCA1 deletion identified in multiple families through single nucleotide polymorphism haplotype pair analysis and gene amplification with widely dispersed primer sets
    • Ward BD, Hendrickson BC, Judkins T et al. A multi-exonic BRCA1 deletion identified in multiple families through single nucleotide polymorphism haplotype pair analysis and gene amplification with widely dispersed primer sets. J Mol Diagn 2005: 7: 139-142.
    • (2005) J Mol Diagn , vol.7 , pp. 139-142
    • Ward, B.D.1    Hendrickson, B.C.2    Judkins, T.3
  • 54
    • 0033566173 scopus 로고    scopus 로고
    • Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families
    • Montagna M, Santacatterina M, Torri A et al. Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families. Oncogene 1999: 18: 4160-4165.
    • (1999) Oncogene , vol.18 , pp. 4160-4165
    • Montagna, M.1    Santacatterina, M.2    Torri, A.3
  • 56
    • 0033763738 scopus 로고    scopus 로고
    • In-frame deletions of BRCA1 may define critical functional domains
    • Rohlfs EM, Chung CH, Yang Q et al. In-frame deletions of BRCA1 may define critical functional domains. Hum Genet 2000: 107: 385-390.
    • (2000) Hum Genet , vol.107 , pp. 385-390
    • Rohlfs, E.M.1    Chung, C.H.2    Yang, Q.3
  • 57
    • 0033956577 scopus 로고    scopus 로고
    • A sporadic breast tumor with a somatically acquired complex genomic rearrangement in BRCA1
    • van der Looij M, Cleton-Jansen AM, van Eijk R et al. A sporadic breast tumor with a somatically acquired complex genomic rearrangement in BRCA1. Genes Chromosomes Cancer 2000: 27: 295-302.
    • (2000) Genes Chromosomes Cancer , vol.27 , pp. 295-302
    • van der Looij, M.1    Cleton-Jansen, A.M.2    van Eijk, R.3
  • 58
    • 0035261075 scopus 로고    scopus 로고
    • A new mutation in the BRCA1 gene (g.5196-5201del6, 5195-5202ins12), a 6 bp deletion replaced by the duplication of a 12 bp adjacent upstream intronic sequence
    • Hardouin A, Baumann J, Roussel G, Quillien V, Dugast C, Berthet P. A new mutation in the BRCA1 gene (g.5196-5201del6, 5195-5202ins12), a 6 bp deletion replaced by the duplication of a 12 bp adjacent upstream intronic sequence. Hum Mutat 2001: 17: 154.
    • (2001) Hum Mutat , vol.17 , pp. 154
    • Hardouin, A.1    Baumann, J.2    Roussel, G.3    Quillien, V.4    Dugast, C.5    Berthet, P.6
  • 59
    • 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. An in frame deletion of BRCA1 exon 20 in a family with early onset breast and ovarian cancer. Am J Hum Genet 1999: 65: A1610.
    • (1999) Am J Hum Genet , vol.65
    • Carson, N.1    Gilpin, C.2    Hunter, A.3    Allanson, J.4    Aubry, H.5
  • 60
    • 13144292425 scopus 로고    scopus 로고
    • Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer
    • Belogianni I, Apessos A, Mihalatos M et al. Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer. BMC Cancer 2004: 4: 61.
    • (2004) BMC Cancer , vol.4 , pp. 61
    • Belogianni, I.1    Apessos, A.2    Mihalatos, M.3
  • 61
    • 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 2004: 64: 8143-8147.
    • (2004) Cancer Res , vol.64 , pp. 8143-8147
    • Tournier, I.1    Paillerets, B.B.2    Sobol, H.3
  • 62
    • 33645100274 scopus 로고    scopus 로고
    • Large genomic deletions inactivate the BRCA2 gene in breast cancer families
    • Agata S, Dalla Palma M, Callegaro M et al. Large genomic deletions inactivate the BRCA2 gene in breast cancer families. J Med Genet 2005: 42: E64.
    • (2005) J Med Genet , vol.42
    • Agata, S.1    Dalla Palma, M.2    Callegaro, M.3
  • 63
    • 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 2001: 31: 91-95.
    • (2001) Genes Chromosomes Cancer , vol.31 , pp. 91-95
    • Wang, T.1    Lerer, I.2    Gueta, Z.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.