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Volumn 45, Issue 2, 2012, Pages 117-130

BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela

Author keywords

BRCA genes; Breast cancer; Screening mutations

Indexed keywords


EID: 84866135226     PISSN: 07169760     EISSN: 07176287     Source Type: Journal    
DOI: 10.4067/S0716-97602012000200003     Document Type: Article
Times cited : (25)

References (35)
  • 1
    • 80052030040 scopus 로고    scopus 로고
    • Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: Identification of seven novel mutations
    • ALBÁNEZ S, RUIZ-SAEZ A, BOADAS A, DE BOSCH N, PORCO A (2011) Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations. Haemophilia 17: e913-e918
    • (2011) Haemophilia , vol.17
    • Albánez, S.1    Ruiz-Saez, A.2    Boadas, A.3    de Bosch, N.4    Porco, A.5
  • 2
    • 0037250561 scopus 로고    scopus 로고
    • Unleashing the long-distance PCR for detection of the intron 22 inversion of the factor VIII gene in severe haemophilia A
    • BOWEN DJ, KEENEY S (2003) Unleashing the long-distance PCR for detection of the intron 22 inversion of the factor VIII gene in severe haemophilia A. Thromb Haemost 89: 201-2.
    • (2003) Thromb Haemost , vol.89 , pp. 201-202
    • Bowen, D.J.1    Keeney, S.2
  • 4
    • 63849172310 scopus 로고    scopus 로고
    • Aspectos epidemiológicos del cáncer en Venezuela
    • CAPOTE L (2006) Aspectos epidemiológicos del cáncer en Venezuela. Rev venez oncol 18: 269-281.
    • (2006) Rev venez oncol , vol.18 , pp. 269-281
    • Capote, L.1
  • 5
    • 0034028739 scopus 로고    scopus 로고
    • Clinico-pathological characteristics of BRCA1-and RCA2-related breast cancer
    • CHAPPUIS PO, NETHERCOT V, FOULKES WD (2000) Clinico-pathological characteristics of BRCA1-and RCA2-related breast cancer. Semin Surg Oncol 18:287-95.
    • (2000) Semin Surg Oncol , vol.18 , pp. 287-295
    • Chappuis, P.O.1    Nethercot, V.2    Foulkes, W.D.3
  • 6
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variations
    • DEN DUNNEN JT, ANTONARAKIS SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109: 121-4.
    • (2001) Hum Genet , vol.109 , pp. 121-124
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 9
    • 0028034348 scopus 로고
    • Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families
    • FRIEDMAN LS, OSTERMEYER EA, SZABO CI, DOWD P, LYNCH ED, ROWELL SE, KING MC (1994) Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Genet 8: 399-404.
    • (1994) Nat Genet , vol.8 , pp. 399-404
    • Friedman, L.S.1    Ostermeyer, E.A.2    Szabo, C.I.3    Dowd, P.4    Lynch, E.D.5    Rowell, S.E.6    King, M.C.7
  • 11
    • 0027433113 scopus 로고
    • Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in doublestranded PCR products and DNA fragments: Evidence for solventinduced bends in DNA heteroduplexes
    • GANGULY A, ROCK MJ, PROCKOP DJ (1993) Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in doublestranded PCR products and DNA fragments: evidence for solventinduced bends in DNA heteroduplexes. Proc Natl Acad Sci U S A 90: 10325-9.
    • (1993) Proc Natl Acad Sci U S A , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 12
  • 14
    • 25144506227 scopus 로고    scopus 로고
    • The molecular pathology of hereditary breast cancer: Genetic testing and therapeutic implications
    • HONRADO E, BENÍTEZ J, PALACIOS J (2005) The molecular pathology of hereditary breast cancer: genetic testing and therapeutic implications. Mod Pathol 18: 1305-20.
    • (2005) Mod Pathol , vol.18 , pp. 1305-1320
    • Honrado, E.1    Benítez, J.2    Palacios, J.3
  • 16
    • 0142178215 scopus 로고    scopus 로고
    • Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    • KING MC, MARKS JH, MANDELL JB (2003) Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302: 643-6.
    • (2003) Science , vol.302 , pp. 643-646
    • King, M.C.1    Marks, J.H.2    Mandell, J.B.3
  • 17
    • 15044346358 scopus 로고    scopus 로고
    • BRCA2-RAD51-DSS1 interplay examined from a microbial perspective
    • KOJIC M, HOLLOMAN WK (2004) BRCA2-RAD51-DSS1 interplay examined from a microbial perspective. Cell Cycle 3: 247-8.
    • (2004) Cell Cycle , vol.3 , pp. 247-248
    • Kojic, M.1    Holloman, W.K.2
  • 18
    • 0034125402 scopus 로고    scopus 로고
    • A rapid fluorescent multiplexed-PCR analysis (FMPA) for founder mutations in the BRCA1 and BRCA2 genes
    • KUPERSTEIN G, FOULKES WD, GHADIRIAN P, HAKIMI J, NAROD SA (2000) A rapid fluorescent multiplexed-PCR analysis (FMPA) for founder mutations in the BRCA1 and BRCA2 genes. Clin Genet 57: 213-20.
    • (2000) Clin Genet , vol.57 , pp. 213-220
    • Kuperstein, G.1    Foulkes, W.D.2    Ghadirian, P.3    Hakimi, J.4    Narod, S.A.5
  • 19
    • 0036569877 scopus 로고    scopus 로고
    • The pathology of familial breast cancer: Predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2
    • LAKHANI SR, VAN DE VIJVER MJ, JACQUEMIER J, ANDERSON TJ, OSIN PP, MCGUFFOG L, EASTON DF (2002) The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 20:2310-2318.
    • (2002) J Clin Oncol , vol.20 , pp. 2310-2318
    • Lakhani, S.R.1    van de Vijver, M.J.2    Jacquemier, J.3    Anderson, T.J.4    Osin, P.P.5    McGuffog, L.6    Easton, D.F.7
  • 20
    • 0037773540 scopus 로고    scopus 로고
    • Loss of Bard1, the heterodimeric partner of the Brca1 tumor suppressor, results in early embryonic lethality and chromosomal instability
    • MCCARTHY EE, CELEBI JT, BAER R, LUDWIG T (2003) Loss of Bard1, the heterodimeric partner of the Brca1 tumor suppressor, results in early embryonic lethality and chromosomal instability. Mol Cell Biol 23: 5056-63.
    • (2003) Mol Cell Biol , vol.23 , pp. 5056-5063
    • McCarthy, E.E.1    Celebi, J.T.2    Baer, R.3    Ludwig, T.4
  • 22
    • 84891742702 scopus 로고    scopus 로고
    • DNA repair: Molecular mimicry
    • MITCHELL A (2002) DNA repair: molecular mimicry. Nat Rev Cancer 2894: 1-5.
    • (2002) Nat Rev Cancer , vol.2894 , pp. 1-5
    • Mitchell, A.1
  • 23
    • 0032778534 scopus 로고    scopus 로고
    • Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript
    • OZCELIK H, NEDELCU R, CHAN VW, SHI XH, MURPHY J, ROSEN B, ANDRULIS IL (1999) Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript. Hum Mutat 14: 540-1.
    • (1999) Hum Mutat , vol.14 , pp. 540-541
    • Ozcelik, H.1    Nedelcu, R.2    Chan, V.W.3    Shi, X.H.4    Murphy, J.5    Rosen, B.6    Andrulis, I.L.7
  • 24
    • 58549098527 scopus 로고    scopus 로고
    • E3 ligase activity of BRCA1 is not essential for mammalian cell viability or homology-directed repair of double-strand DNA breaks
    • REID LJ, SHAKYA R, MODI AP, LOKSHIN M, CHENG JT, JASIN M, BAER R, LUDWIG T (2008) E3 ligase activity of BRCA1 is not essential for mammalian cell viability or homology-directed repair of double-strand DNA breaks. Proc Natl Acad Sci U S A 105: 20876-81.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 20876-20881
    • Reid, L.J.1    Shakya, R.2    Modi, A.P.3    Lokshin, M.4    Cheng, J.T.5    Jasin, M.6    Baer, R.7    Ludwig, T.8
  • 25
    • 0042330420 scopus 로고    scopus 로고
    • Frecuencia génica y porcentaje de mezcla en diferentes áreas geográficas de Venezuela, de acuerdo a los grupos RH y ABO
    • RODRÍGUEZ-LARRALDE A, CASTRO DE GUERRA D, GONZALEZ-COIRA M, MORALES J (2001) Frecuencia génica y porcentaje de mezcla en diferentes áreas geográficas de Venezuela, de acuerdo a los grupos RH y ABO. Interciencia 26: 8-12.
    • (2001) Interciencia , vol.26 , pp. 8-12
    • Rodríguez-Larralde, A.1    Castro de Guerra, D.2    Gonzalez-Coira, M.3    Morales, J.4
  • 27
    • 77649110542 scopus 로고    scopus 로고
    • A characterization of genetic haplotypes in BRCA1 identifies linkage disequilibrium with novel polymorphism in intron 7
    • SALGADO J, GIL C, ROBLES M, GUTIÉRREZ C, REYNA C, GARCÍAFONCILLAS J (2008) A characterization of genetic haplotypes in BRCA1 identifies linkage disequilibrium with novel polymorphism in intron 7. Gene Ther Mol Biol 12: 175-180.
    • (2008) Gene Ther Mol Biol , vol.12 , pp. 175-180
    • Salgado, J.1    Gil, C.2    Robles, M.3    Gutiérrez, C.4    Reyna, C.5    Garcíafoncillas, J.6
  • 28
    • 0026528056 scopus 로고
    • Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): Comparison with DNA-SSCP
    • SARKAR G, YOON HS, SOMMER S (1992) Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP. Nucleic Acids Res 20:871-878.
    • (1992) Nucleic Acids Res , vol.20 , pp. 871-878
    • Sarkar, G.1    Yoon, H.S.2    Sommer, S.3
  • 29
    • 0023651307 scopus 로고
    • RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
    • SHAPIRO MB, SENAPATHY P (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15: 7155-74.
    • (1987) Nucleic Acids Res , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senapathy, P.2
  • 30
    • 33644529562 scopus 로고    scopus 로고
    • Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families
    • TESORIERO AA, WONG EM, JENKINS MA, HOPPER JL, BROWN MA, CHENEVIX-TRENCH G, SPURDLE AB, SOUTHEY MC (2005) Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families. Hum Mutat 26: 495.
    • (2005) Hum Mutat , vol.26 , pp. 495
    • Tesoriero, A.A.1    Wong, E.M.2    Jenkins, M.A.3    Hopper, J.L.4    Brown, M.A.5    Chenevix-Trench, G.6    Spurdle, A.B.7    Southey, M.C.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.