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Volumn 5, Issue , 2015, Pages

Deleterious Germline BLM mutations and the risk for early-onset colorectal cancer

Author keywords

[No Author keywords available]

Indexed keywords

BLOOM SYNDROME HELICASE; RECQ HELICASE;

EID: 84941585711     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep14060     Document Type: Article
Times cited : (71)

References (22)
  • 1
    • 35148853561 scopus 로고    scopus 로고
    • Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer
    • Berwick, M. et al. Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer Res 67, 9591-9596 (2007).
    • (2007) Cancer Res , vol.67 , pp. 9591-9596
    • Berwick, M.1
  • 2
    • 38449120192 scopus 로고    scopus 로고
    • Cancer risk of heterozygotes with the NBN founder mutation
    • Seemanova, E. et al. Cancer risk of heterozygotes with the NBN founder mutation. J Natl Cancer Inst 99, 1875-1880 (2007).
    • (2007) J Natl Cancer Inst , vol.99 , pp. 1875-1880
    • Seemanova, E.1
  • 3
    • 84866932831 scopus 로고    scopus 로고
    • Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles
    • Thompson, E. R. et al. Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet 8, e1002894 (2012).
    • (2012) PLoS Genet , vol.8 , pp. e1002894
    • Thompson, E.R.1
  • 4
    • 18544386262 scopus 로고    scopus 로고
    • BLM heterozygosity and the risk of colorectal cancer
    • Gruber, S. B. et al. BLM heterozygosity and the risk of colorectal cancer. Science 297, 2013 (2002).
    • (2002) Science , vol.297 , pp. 2013
    • Gruber, S.B.1
  • 5
    • 0344953576 scopus 로고    scopus 로고
    • Heterozygosity for the BLMAsh mutation and cancer risk
    • Cleary, S. P. et al. Heterozygosity for the BLMAsh mutation and cancer risk. Cancer Res 3, 1769-1771 (2003).
    • (2003) Cancer Res , vol.3 , pp. 1769-1771
    • Cleary, S.P.1
  • 6
    • 37849046203 scopus 로고    scopus 로고
    • Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome
    • Baris, H. N. et al. Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome. Isr Med Assoc J 9, 847-850 (2007).
    • (2007) Isr Med Assoc J , vol.9 , pp. 847-850
    • Baris, H.N.1
  • 7
    • 0032946216 scopus 로고    scopus 로고
    • Mucinous carcinoma of the colon in a 16-year-old Turkish boy with Bloom syndrome: Cytogenetic, histopathologic, TP53 gene and protein expression studies
    • Balci, S. and Aktas, D. Mucinous carcinoma of the colon in a 16-year-old Turkish boy with Bloom syndrome: cytogenetic, histopathologic, TP53 gene and protein expression studies. Cancer Genet Cytogenet 111, 45-48 (1999).
    • (1999) Cancer Genet Cytogenet , vol.111 , pp. 45-48
    • Balci, S.1    Aktas, D.2
  • 8
    • 84871448593 scopus 로고    scopus 로고
    • Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
    • ORoak, B. J. et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338, 1619-1622 (2012).
    • (2012) Science , vol.338 , pp. 1619-1622
    • ORoak, B.J.1
  • 9
    • 34247562576 scopus 로고    scopus 로고
    • Syndrome-causing mutations of the BLM gene in persons in the Blooms Syndrome Registry
    • German, J., Sanz, M. M., Ciocci, S., Ye, T. Z. and Ellis, N. A. Syndrome-causing mutations of the BLM gene in persons in the Blooms Syndrome Registry. Hum Mutat 28, 743-753 (2007).
    • (2007) Hum Mutat , vol.28 , pp. 743-753
    • German, J.1    Sanz, M.M.2    Ciocci, S.3    Ye, T.Z.4    Ellis, N.A.5
  • 10
    • 84941574335 scopus 로고    scopus 로고
    • Exome Aggregation Consortium (ExAC) (Dateofaccess:10/11/2014
    • Exome Aggregation Consortium (ExAC), ExAC data set browser (2014). http://exac.broadinstitute.org (Date of access: 10/11/2014).
    • (2014) ExAC Data Set Browser
  • 11
    • 67749089553 scopus 로고    scopus 로고
    • Genomic instability and cancer: Lessons from analysis of Blooms syndrome
    • Payne, M. and Hickson, I. D. Genomic instability and cancer: lessons from analysis of Blooms syndrome. Biochem Soc Trans 37, 553-559 (2009).
    • (2009) Biochem Soc Trans , vol.37 , pp. 553-559
    • Payne, M.1    Hickson, I.D.2
  • 13
    • 0033667704 scopus 로고    scopus 로고
    • Cancer predisposition caused by elevated mitotic recombination in Bloom mice
    • Luo, G. et al. Cancer predisposition caused by elevated mitotic recombination in Bloom mice. Nature genetics 26, 424-429 (2000).
    • (2000) Nature Genetics , vol.26 , pp. 424-429
    • Luo, G.1
  • 14
    • 0037144601 scopus 로고    scopus 로고
    • Enhanced tumor formation in mice heterozygous for Blm mutation
    • Goss, K. H. et al. Enhanced tumor formation in mice heterozygous for Blm mutation. Science 297, 2051-2053 (2002).
    • (2002) Science , vol.297 , pp. 2051-2053
    • Goss, K.H.1
  • 15
    • 0345724846 scopus 로고    scopus 로고
    • Chromosome instability and tumor predisposition inversely correlate with BLM protein levels
    • McDaniel, L. D. et al. Chromosome instability and tumor predisposition inversely correlate with BLM protein levels. DNA Repair 2, 1387-1404 (2003).
    • (2003) DNA Repair , vol.2 , pp. 1387-1404
    • McDaniel, L.D.1
  • 16
    • 84905914908 scopus 로고    scopus 로고
    • Development of breast tumors in CHEK2, NBN/NBS1 and BLM mutation carriers does not commonly involve somatic inactivation of the wild-type allele
    • Suspitsin, E. N. et al. Development of breast tumors in CHEK2, NBN/NBS1 and BLM mutation carriers does not commonly involve somatic inactivation of the wild-type allele. Med Oncol 31, 828 (2014).
    • (2014) Med Oncol , vol.31 , pp. 828
    • Suspitsin, E.N.1
  • 17
    • 84880005228 scopus 로고    scopus 로고
    • Identification of novel variants in colorectal cancer families by high-throughput exome sequencing
    • DeRycke, M. S. et al. Identification of novel variants in colorectal cancer families by high-throughput exome sequencing. Cancer Epidemiol Biomarkers Prev 22, 1239-1251 (2013).
    • (2013) Cancer Epidemiol Biomarkers Prev , vol.22 , pp. 1239-1251
    • DeRycke, M.S.1
  • 18
    • 84887271790 scopus 로고    scopus 로고
    • Eleven candidate susceptibility genes for common familial colorectal cancer
    • Gylfe, A. E. et al. Eleven candidate susceptibility genes for common familial colorectal cancer. PLoS Genet 9, e1003876 (2013).
    • (2013) PLoS Genet , vol.9 , pp. e1003876
    • Gylfe, A.E.1
  • 19
    • 84879409534 scopus 로고    scopus 로고
    • Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer
    • Smith, C. G. et al. Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer. Hum Mutat 34, 1026-1034 (2013).
    • (2013) Hum Mutat , vol.34 , pp. 1026-1034
    • Smith, C.G.1
  • 20
    • 84883163903 scopus 로고    scopus 로고
    • Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer
    • De Voer, R. M. et al. Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer. Gastroenterology 145, 544-547 (2013).
    • (2013) Gastroenterology , vol.145 , pp. 544-547
    • De Voer, R.M.1
  • 21
    • 84887617035 scopus 로고    scopus 로고
    • A post-hoc comparison of the utility of Sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
    • Neveling, K. et al. A post-hoc comparison of the utility of Sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Human Mutat 34, 1721-1726 (2013).
    • (2013) Human Mutat , vol.34 , pp. 1721-1726
    • Neveling, K.1
  • 22
    • 84877108149 scopus 로고    scopus 로고
    • Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation
    • Hiatt, J. B. et al. Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Res 23, 843-854 (2013).
    • (2013) Genome Res , vol.23 , pp. 843-854
    • Hiatt, J.B.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.