메뉴 건너뛰기




Volumn 18, Issue 2, 2010, Pages 53-61

Identification of a recurrent BRCA1 mutation in two breast/ovarian cancer predisposition families with distinct phenotypes, by using allele-specific multiplex-PCR;Identificarea unei mutaţii recurente BRCA1 în douǎ familii cu predispoziţie la cancer mamar/ovarian cu fenotipuri distincte, prin PCR-multiplex alelǎ-specific

Author keywords

Allele specific multiplex PCR; BRCA recurrent mutation; Hereditary breast ovarian cancer (HBOC)

Indexed keywords


EID: 79251556610     PISSN: 18416624     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (9)

References (21)
  • 1
    • 0142178215 scopus 로고    scopus 로고
    • Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2
    • for The New York BreastCancer Study Group
    • King M.C., Marks J.H., Mandell J.B., for The New York BreastCancer Study Group, 2003, Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2. Science, 302, 643-646.
    • (2003) Science , vol.302 , pp. 643-646
    • King, M.C.1    Marks, J.H.2    Mandell, J.B.3
  • 2
    • 85077413581 scopus 로고    scopus 로고
    • WHOSIS - World Health Organization Statistical Information System
    • WHOSIS - World Health Organization Statistical Information System (http://www.who.int/whosis/en/).
  • 3
    • 85077426173 scopus 로고    scopus 로고
    • Romanian Cancer League
    • Romanian Cancer League (http://www.romaniancancerleague.org/en/index.php).
  • 4
    • 27144447689 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 as ovarian cancer susceptibility genes
    • Sowter H.M. and Ashworth A., 2005, BRCA1 and BRCA2 as ovarian cancer susceptibility genes. Carcinogenesis, 26(10), 1651-1656.
    • (2005) Carcinogenesis , vol.26 , Issue.10 , pp. 1651-1656
    • Sowter, H.M.1    Ashworth, A.2
  • 8
    • 0038744296 scopus 로고    scopus 로고
    • Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies
    • Antoniou A. et al., 2003, Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet, 72(5), 1117-1130.
    • (2003) Am J Hum Genet , vol.72 , Issue.5 , pp. 1117-1130
    • Antoniou, A.1
  • 9
    • 85077413172 scopus 로고    scopus 로고
    • Breast Information Core (BIC) database
    • Breast Information Core (BIC) database (http://research.nhgri.nih.gov/bic/).
  • 11
    • 0032441791 scopus 로고    scopus 로고
    • The genetics of breast cancer susceptibility
    • Rahman N. and Stratton M.R., 1998, The genetics of breast cancer susceptibility. Annu Rev Genet, 32, 95-121.
    • (1998) Annu Rev Genet , vol.32 , pp. 95-121
    • Rahman, N.1    Stratton, M.R.2
  • 12
    • 0029794992 scopus 로고    scopus 로고
    • Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2
    • Roa B.B., Boyd A.A., Volcik K. and Richards C.S., 1996, Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nature Genet., 14, 185-187.
    • (1996) Nature Genet , vol.14 , pp. 185-187
    • Roa, B.B.1    Boyd, A.A.2    Volcik, K.3    Richards, C.S.4
  • 13
    • 13344260688 scopus 로고    scopus 로고
    • Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer
    • Fitzgerald M.G. et al., 1996, Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med., 334(3), 143-149.
    • (1996) N Engl J Med , vol.334 , Issue.3 , pp. 143-149
    • Fitzgerald, M.G.1
  • 14
    • 0033939978 scopus 로고    scopus 로고
    • Founder Mutations in the BRCA1 Gene in Polish Families with Breast-Ovarian Cancer
    • Gorski G.et al., 2000, Founder Mutations in the BRCA1 Gene in Polish Families with Breast-Ovarian Cancer. Am J Hum Genet, 66, 1963-1968.
    • (2000) Am J Hum Genet , vol.66 , pp. 1963-1968
    • Gorski, G.1
  • 15
    • 33645466805 scopus 로고    scopus 로고
    • Ashkenazi founder BRCA1/BRCA2 mutations in Slovak hereditary breast and/or ovarian cancer families
    • Ciernikova and coll
    • Ciernikova and coll., 2006, Ashkenazi founder BRCA1/BRCA2 mutations in Slovak hereditary breast and/or ovarian cancer families. Neoplasma, 53(2), 97-102.
    • (2006) Neoplasma , vol.53 , Issue.2 , pp. 97-102
  • 16
    • 0034098976 scopus 로고    scopus 로고
    • Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary
    • Van der Looij and coll
    • Van der Looij and coll., 2000, Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary. Int J Cancer, 86(5), 737-740.
    • (2000) Int J Cancer , vol.86 , Issue.5 , pp. 737-740
  • 17
    • 1842582775 scopus 로고    scopus 로고
    • Spectrum of mutations in BRCA1 gene in hereditary forms of breast and ovarian cancer in Russian families
    • Loginova A.N. et al., 2003, Spectrum of mutations in BRCA1 gene in hereditary forms of breast and ovarian cancer in Russian families. Bull Exp Biol Med, 136(3), 276-278.
    • (2003) Bull Exp Biol Med , vol.136 , Issue.3 , pp. 276-278
    • Loginova, A.N.1
  • 18
    • 0035692235 scopus 로고    scopus 로고
    • Founder mutations in the BRCA1 gene in west Belarusian breast-ovarian cancer families
    • Ozsurek O. et al., 2001, Founder mutations in the BRCA1 gene in west Belarusian breast-ovarian cancer families. Clin Genet, 60, 470-471.
    • (2001) Clin Genet , vol.60 , pp. 470-471
    • Ozsurek, O.1
  • 19
    • 0345425765 scopus 로고    scopus 로고
    • Simple and rapid detection of BRCA1 and BRCA2 mutations by multiplex mutagenically separated PCR
    • Chan P., Wong B., Ozcelik H. and Cole D., 1999, Simple and rapid detection of BRCA1 and BRCA2 mutations by multiplex mutagenically separated PCR. Clin Chem., 45(8), 1285-1287.
    • (1999) Clin Chem , vol.45 , Issue.8 , pp. 1285-1287
    • Chan, P.1    Wong, B.2    Ozcelik, H.3    Cole, D.4
  • 20
    • 85077424207 scopus 로고    scopus 로고
    • Human Genome Variation Society (HGVS) Nomenclature for the description of sequence variations
    • Human Genome Variation Society (HGVS) Nomenclature for the description of sequence variations (http://www.genomic.unimelb.edu.au/mdi/mutnomen/).
  • 21
    • 85077425344 scopus 로고    scopus 로고
    • National Center for Biotechnology Information (NCBI)
    • National Center for Biotechnology Information (NCBI) (http://www.ncbi.nlm.nih.gov/).


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.