메뉴 건너뛰기




Volumn 208, Issue 9, 2015, Pages 448-454

The importance of analysis of long-range rearrangement of BRCA1 and BRCA2 in genetic diagnosis of familial breast cancer

Author keywords

BRCA; Hereditary breast and ovarian cancers; Large genmic rearrangements; Multiplex ligation dependent probe amplification

Indexed keywords

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DOWN REGULATION; FALSE NEGATIVE RESULT; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE DELETION; GENE EXPRESSION REGULATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; GERMLINE MUTATION; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; SMALL NUCLEOTIDE VARIATION; TRIPLE NEGATIVE BREAST CANCER; TUMOR SUPPRESSOR GENE; BREAST TUMOR; GENETICS; HIGH THROUGHPUT SEQUENCING; MIDDLE AGED; MULTIPLEX POLYMERASE CHAIN REACTION; NUCLEOTIDE SEQUENCE; OVARY TUMOR; PROCEDURES; VERY ELDERLY; YOUNG ADULT;

EID: 84940451201     PISSN: 22107762     EISSN: 22107770     Source Type: Journal    
DOI: 10.1016/j.cancergen.2015.05.031     Document Type: Article
Times cited : (44)

References (29)
  • 2
    • 34248170114 scopus 로고    scopus 로고
    • Meta-analysis of BRCA1 and BRCA2 penetrance
    • Chen S., Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 2007, 25:1329-1333.
    • (2007) J Clin Oncol , vol.25 , pp. 1329-1333
    • Chen, S.1    Parmigiani, G.2
  • 3
    • 0035913275 scopus 로고    scopus 로고
    • Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation
    • Meijers-Heijboer H., van Geel B., van Putten W.L., et al. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2001, 345:159-164.
    • (2001) N Engl J Med , vol.345 , pp. 159-164
    • Meijers-Heijboer, H.1    van Geel, B.2    van Putten, W.L.3
  • 4
    • 0036498727 scopus 로고    scopus 로고
    • Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers
    • Scheuer L., Kauff N., Robson M., et al. Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. J Clin Oncol 2002, 20:1260-1268.
    • (2002) J Clin Oncol , vol.20 , pp. 1260-1268
    • Scheuer, L.1    Kauff, N.2    Robson, M.3
  • 5
    • 0035861037 scopus 로고    scopus 로고
    • Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial
    • King M.C., Wieand S., Hale K., et al. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA 2001, 286:2251-2256.
    • (2001) JAMA , vol.286 , pp. 2251-2256
    • King, M.C.1    Wieand, S.2    Hale, K.3
  • 6
    • 33645084562 scopus 로고    scopus 로고
    • Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
    • Walsh T., Casadei S., Coats K.H., et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 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
  • 8
    • 0029804093 scopus 로고    scopus 로고
    • Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1
    • Smith T.M., Lee M.K., Szabo C.I., 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
  • 9
    • 0037380994 scopus 로고    scopus 로고
    • Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method
    • Hogervorst F.B., Nederlof P.M., Gille J.J., 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
  • 10
    • 33745588077 scopus 로고    scopus 로고
    • No evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families
    • Moisan A.M., Fortin J., Dumont M., et al. No evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families. Genet Test 2006, 10:104-115.
    • (2006) Genet Test , vol.10 , pp. 104-115
    • Moisan, A.M.1    Fortin, J.2    Dumont, M.3
  • 11
    • 78649333578 scopus 로고    scopus 로고
    • Searching for large genomic rearrangements of the BRCA1 gene in a Nigerian population
    • Zhang J., Fackenthal J.D., Huo D., et al. Searching for large genomic rearrangements of the BRCA1 gene in a Nigerian population. Breast Cancer Res Treat 2010, 124:573-577.
    • (2010) Breast Cancer Res Treat , vol.124 , pp. 573-577
    • Zhang, J.1    Fackenthal, J.D.2    Huo, D.3
  • 12
    • 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
  • 13
    • 3543023204 scopus 로고    scopus 로고
    • Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    • Schouten J.P., McElgunn C.J., Waaijer R., et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002, 30:e57.
    • (2002) Nucleic Acids Res , vol.30 , pp. e57
    • Schouten, J.P.1    McElgunn, C.J.2    Waaijer, R.3
  • 14
    • 3042824616 scopus 로고    scopus 로고
    • Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses
    • White S.J., Vink G.R., Kriek M., et al. Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat 2004, 24:86-92.
    • (2004) Hum Mutat , vol.24 , pp. 86-92
    • White, S.J.1    Vink, G.R.2    Kriek, M.3
  • 15
    • 53649088131 scopus 로고    scopus 로고
    • Applications of next-generation sequencing technologies in functional genomics
    • Morozova O., Marra M.A. Applications of next-generation sequencing technologies in functional genomics. Genomics 2008, 92:255-264.
    • (2008) Genomics , vol.92 , pp. 255-264
    • Morozova, O.1    Marra, M.A.2
  • 17
    • 52949096084 scopus 로고    scopus 로고
    • Next-generation DNA sequencing methods
    • Mardis E.R. Next-generation DNA sequencing methods. Annu Rev Genomics Hum Genet 2008, 9:387-402.
    • (2008) Annu Rev Genomics Hum Genet , vol.9 , pp. 387-402
    • Mardis, E.R.1
  • 18
    • 77955439715 scopus 로고    scopus 로고
    • Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
    • Walsh T., Lee M.K., Casadei S., et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A 2010, 107:12629-12633.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 12629-12633
    • Walsh, T.1    Lee, M.K.2    Casadei, S.3
  • 19
    • 84880922809 scopus 로고    scopus 로고
    • Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes
    • Feliubadalo L., Lopez-Doriga A., Castellsague E., et al. Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes. Eur J Hum Genet 2013, 21:864-870.
    • (2013) Eur J Hum Genet , vol.21 , pp. 864-870
    • Feliubadalo, L.1    Lopez-Doriga, A.2    Castellsague, E.3
  • 20
    • 79958123875 scopus 로고    scopus 로고
    • A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer
    • Kwong A., Ng E.K., Tang E.Y., et al. A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer. Fam Cancer 2011, 10:233-237.
    • (2011) Fam Cancer , vol.10 , pp. 233-237
    • Kwong, A.1    Ng, E.K.2    Tang, E.Y.3
  • 21
    • 84878763949 scopus 로고    scopus 로고
    • Novel BRCA1 and BRCA2 genomic rearrangements in Southern Chinese breast/ovarian cancer patients
    • Kwong A., Ng E.K., Law F.B., et al. Novel BRCA1 and BRCA2 genomic rearrangements in Southern Chinese breast/ovarian cancer patients. Breast Cancer Res Treat 2012, 136:931-933.
    • (2012) Breast Cancer Res Treat , vol.136 , pp. 931-933
    • Kwong, A.1    Ng, E.K.2    Law, F.B.3
  • 22
    • 84907025100 scopus 로고    scopus 로고
    • A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients
    • Seong M.W., Cho S.I., Kim K.H., et al. A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients. BMC Cancer 2014, 14:645.
    • (2014) BMC Cancer , vol.14 , pp. 645
    • Seong, M.W.1    Cho, S.I.2    Kim, K.H.3
  • 23
    • 84899855511 scopus 로고    scopus 로고
    • Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements
    • Fachal L., Blanco A., Santamarina M., et al. Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements. PLoS ONE 2014, 9:e93306.
    • (2014) PLoS ONE , vol.9 , pp. e93306
    • Fachal, L.1    Blanco, A.2    Santamarina, M.3
  • 24
    • 84874936077 scopus 로고    scopus 로고
    • Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations
    • Schluth-Bolard C., Labalme A., Cordier M.P., et al. Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations. J Med Genet 2013, 50:144-150.
    • (2013) J Med Genet , vol.50 , pp. 144-150
    • Schluth-Bolard, C.1    Labalme, A.2    Cordier, M.P.3
  • 25
    • 79953855362 scopus 로고    scopus 로고
    • Accurate and exact CNV identification from targeted high-throughput sequence data
    • Nord A.S., Lee M., King M.C., et al. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics 2011, 12:184.
    • (2011) BMC Genomics , vol.12 , pp. 184
    • Nord, A.S.1    Lee, M.2    King, M.C.3
  • 26
    • 0036409283 scopus 로고    scopus 로고
    • The detection of large deletions or duplications in genomic DNA
    • Armour J.A., Barton D.E., Cockburn D.J., et al. The detection of large deletions or duplications in genomic DNA. Hum Mutat 2002, 20:325-337.
    • (2002) Hum Mutat , vol.20 , pp. 325-337
    • Armour, J.A.1    Barton, D.E.2    Cockburn, D.J.3
  • 27
    • 84901357886 scopus 로고    scopus 로고
    • Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection
    • Concolino P., Mello E., Minucci A., et al. Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection. Clin Chem Lab Med 2014, 52:1119-1127.
    • (2014) Clin Chem Lab Med , vol.52 , pp. 1119-1127
    • Concolino, P.1    Mello, E.2    Minucci, A.3
  • 28
    • 65649090406 scopus 로고    scopus 로고
    • Molecular genetic testing for large genomic deletion and duplication mutations in the BRCA1 and BRCA2 genes for hereditary breast and ovarian cancer
    • Wenstrup R., Judkins T., Eliason K., et al. Molecular genetic testing for large genomic deletion and duplication mutations in the BRCA1 and BRCA2 genes for hereditary breast and ovarian cancer. J Clin Oncol 2007, 25:10513.
    • (2007) J Clin Oncol , vol.25 , pp. 10513
    • Wenstrup, R.1    Judkins, T.2    Eliason, K.3
  • 29
    • 84939417452 scopus 로고    scopus 로고
    • Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features
    • James P.A., Sawyer S., Boyle S., et al. Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features. Fam Cancer 2015, 14:287-295.
    • (2015) Fam Cancer , vol.14 , pp. 287-295
    • James, P.A.1    Sawyer, S.2    Boyle, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.