메뉴 건너뛰기




Volumn 8, Issue 2, 2004, Pages 133-138

Characterization of two novel BRCA1 germ-line mutations involving splice donor sites

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; MESSENGER RNA;

EID: 4143085918     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/1090657041797347     Document Type: Article
Times cited : (12)

References (23)
  • 2
    • 0032757170 scopus 로고    scopus 로고
    • Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > G
    • CLAES, K., MACHACKOVA, E., DE VOS, M., POPPE, B., DE PAEPE, A., and MESSIAEN, L. (1999). Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > G. Dis. Markers 15, 69-73.
    • (1999) Dis. Markers , vol.15 , pp. 69-73
    • Claes, K.1    Machackova, E.2    De Vos, M.3    Poppe, B.4    De Paepe, A.5    Messiaen, L.6
  • 5
    • 0033974611 scopus 로고    scopus 로고
    • Prevention with tamoxifen or other hormones versus prophylactic surgery in BRCA1/2-positive women: A decision analysis
    • GRANN, V.R., JACOBSON, J.S., WHANG, W., HERSHMAN, D., HEITJAN, D.F., ANTMAN, K.H., and NEUGUT, A.I. (2000). Prevention with tamoxifen or other hormones versus prophylactic surgery in BRCA1/2-positive women: a decision analysis. Cancer J. Sci. Am. 6, 13-20.
    • (2000) Cancer J. Sci. Am. , vol.6 , pp. 13-20
    • Grann, V.R.1    Jacobson, J.S.2    Whang, W.3    Hershman, D.4    Heitjan, D.F.5    Antman, K.H.6    Neugut, A.I.7
  • 7
    • 0033631007 scopus 로고    scopus 로고
    • A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation
    • HARTIKAINEN, J.M., PIRSKANEN, M.M., ARFFMAN, A.H., RISTONMAA, U.K., and MANNERMAA, A.J. (2000). A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation. Hum. Mutat. 15, 120.
    • (2000) Hum. Mutat. , vol.15 , pp. 120
    • Hartikainen, J.M.1    Pirskanen, M.M.2    Arffman, A.H.3    Ristonmaa, U.K.4    Mannermaa, A.J.5
  • 9
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
    • KRAWCZAK, M., REISS, J., and COOPER, D.N. (1992). The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum. Genet. 90, 41-54.
    • (1992) Hum. Genet. , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 10
    • 0004038637 scopus 로고
    • Oxford University Press, New York
    • LEWIN, B. (1994). Genes V. Oxford University Press, New York, pp. 914.
    • (1994) Genes V , pp. 914
    • Lewin, B.1
  • 11
    • 0031202066 scopus 로고    scopus 로고
    • Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome
    • LIU, W., QIAN, C., and FRANCKE, U. (1997). Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Nature Genet. 16, 328-329.
    • (1997) Nature Genet. , vol.16 , pp. 328-329
    • Liu, W.1    Qian, C.2    Francke, U.3
  • 12
    • 0032128255 scopus 로고    scopus 로고
    • Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins
    • LIU, H.X., ZHANG, M., and KRAINER, A.R. (1998). Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins. Genes Dev. 12, 1998-2012.
    • (1998) Genes Dev. , vol.12 , pp. 1998-2012
    • Liu, H.X.1    Zhang, M.2    Krainer, A.R.3
  • 13
    • 0033963336 scopus 로고    scopus 로고
    • Exonic splicing enhancer motif recognized by human SC35 under splicing conditions
    • LIU, H.X., CHEW, S.L., CARTEGNI, L., ZHANG, M.Q., and KRAINER, A.R. (2000). Exonic splicing enhancer motif recognized by human SC35 under splicing conditions. Mol. Cell. Biol. 20, 1063-1071.
    • (2000) Mol. Cell. Biol. , vol.20 , pp. 1063-1071
    • Liu, H.X.1    Chew, S.L.2    Cartegni, L.3    Zhang, M.Q.4    Krainer, A.R.5
  • 14
    • 0035158730 scopus 로고    scopus 로고
    • A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
    • LIU, H.X., CARTEGNI, L., ZHANG, M.Q., and KRAINER, A.R. (2001). A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nature Genet. 27, 55-58.
    • (2001) Nature Genet. , vol.27 , pp. 55-58
    • Liu, H.X.1    Cartegni, L.2    Zhang, M.Q.3    Krainer, A.R.4
  • 15
    • 0037441808 scopus 로고    scopus 로고
    • Hereditary breast-ovarian cancer at the bedside: Role of the medical oncologist
    • LYNCH, H.T., SNYDER, C.L., LYNCH, J.F., RILEY, B.D., and RUBINSTEIN, W.S. (2003). Hereditary breast-ovarian cancer at the bedside: role of the medical oncologist. J. Clin. Oncol. 21, 740-753.
    • (2003) J. Clin. Oncol. , vol.21 , pp. 740-753
    • Lynch, H.T.1    Snyder, C.L.2    Lynch, J.F.3    Riley, B.D.4    Rubinstein, W.S.5
  • 18
    • 0033556051 scopus 로고    scopus 로고
    • Screening for genomic rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions
    • PUGET, N., STOPPA-LYONNET, D., SINILNIKOVA, O.M., PAGES, S., LYNCH, H.T., LENOIR, G.T., and MAZOYER, S. (1999). Screening for genomic rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res. 59, 455-461.
    • (1999) Cancer Res. , vol.59 , pp. 455-461
    • Puget, N.1    Stoppa-Lyonnet, D.2    Sinilnikova, O.M.3    Pages, S.4    Lynch, H.T.5    Lenoir, G.T.6    Mazoyer, S.7
  • 19
    • 0032823412 scopus 로고    scopus 로고
    • A characterization of genetic variants in BRCA1 intron 8 identifies a mutation and a polymorphism
    • PYNE, M.T., PRUSS, D., WARD, B.E., and SCHOLL, T. (1999). A characterization of genetic variants in BRCA1 intron 8 identifies a mutation and a polymorphism. Mutat. Res. 406, 101-107.
    • (1999) Mutat. Res. , vol.406 , pp. 101-107
    • Pyne, M.T.1    Pruss, D.2    Ward, B.E.3    Scholl, T.4
  • 20
    • 0033026614 scopus 로고    scopus 로고
    • BRCA1 IVS16+6T → C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site
    • SCHOLL, T., PYNE, M.T., RUSSO, D., and WARD, B.E. (1999). BRCA1 IVS16+6T → C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site. Am. J. Med. Genet. 85, 113-116.
    • (1999) Am. J. Med. Genet. , vol.85 , pp. 113-116
    • Scholl, T.1    Pyne, M.T.2    Russo, D.3    Ward, B.E.4
  • 21
    • 0005303213 scopus 로고    scopus 로고
    • Screening for genomic rearrangements in breast and ovarian cancer families identifies BRCA1 mutations previously missed by CSGE or sequencing
    • UNGER, M., NATHANSON, L., ANTIN-OZERKIS, D., CALZONE, K., LENOIR, G., MAZOYER, S., and WEBER B. (2000). Screening for genomic rearrangements in breast and ovarian cancer families identifies BRCA1 mutations previously missed by CSGE or sequencing. Am. J. Human Genet. 67(4), 84-50.
    • (2000) Am. J. Human Genet. , vol.67 , Issue.4 , pp. 84-50
    • Unger, M.1    Nathanson, L.2    Antin-Ozerkis, D.3    Calzone, K.4    Lenoir, G.5    Mazoyer, S.6    Weber, B.7
  • 22
    • 0037685164 scopus 로고    scopus 로고
    • Breast and ovarian cancer
    • WOOSTER, R., and WEBER, B.L. (2003). Breast and ovarian cancer. N. Engl. J. Med. 348, 2339-2347.
    • (2003) N. Engl. J. Med. , vol.348 , pp. 2339-2347
    • Wooster, R.1    Weber, B.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.