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A high proportion of founderBRCA1 mutations in Polish breast cancer families

A high proportion of founderBRCA1 mutations in Polish breast cancer families,10.1002/ijc.20162,International Journal of Cancer,Anna Jakubowska,Tomasz

A high proportion of founderBRCA1 mutations in Polish breast cancer families   (Citations: 49)
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Anna Jakubowska, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Ewa Grzybowska, Andrzej Mackiewicz, Malgorzata Stawicka, Dagmara Sorokin, Olga Haus, Hanna Janiszewska, Lech Zaremba, Ewa Kilarhttp://academic.research.microsoft.com/io.ashx?type=5&id=33793220&selfId1=0&selfId2=0&maxNumber=12&query=
Journal: International Journal of Cancer - INT J CANCER , vol. 110, no. 5, pp. 683-686, 2004
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    • ...Several founder mutations of the breast and ovarian susceptibility gene BRCA1 have been identified in individuals of many different ancestries, including families of Ashkenazi Jewish (185delAG, 5382insC) [2], French Canadian (C4446T, 2953del3 + C) [3, 4], Norwegian (1675delA and 1135insA) [5], Dutch (2804delAA and Alu-mediated deletions encompassing exons 13 and 22) [6, 7] and Polish (5382insC, C61G and 4153delA) [8] origins...

    Theodore Anagnostopouloset al. G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer pati...

    • ...The promoter of GH1 is highly polymorphic and a number of single nucleotide polymorphisms (SNPs) have been reported (Giordano et al. 1997, Wagner et al. 1997, Hasegawa et al. 2000, Le Marchand et al. 2002, Horan et al. 2003)...
    • ...We confirmed 16 out of the 22 SNPs reported so far by the NCBI database and by different laboratories (Giordano et al. 1997, Wagner et al. 1997, Hasegawa et al. 2000, Horan et al. 2003)...
    • ...A-63T/C rs695 12.8 10.7 16 G-60C rs6175 1.2 0.2 17 A-47G/C rs9282699 2.7 2.0 18 C-40T Wagner et al. 1997 0.0 0.0 19 A-38C/G rs6172 2.2 2.4 20 A-37C Giordano et al. 1997 0.0 0.0 21** T-4G rs6173 2.4 4.5 22 A+7G rs1805274 0.9 0.8...
    • ...The regulation of the GH1 gene transcription is also exerted by tissue-specific transcription factors that bind specific cis-elements located in the immediate 50-flanking promoter region (Giordano et al. 1997,...
    • ...The promoter of the GH1 gene is highly polymorphic, with 22 SNPs within a 550 bp stretch (Giordano et al. 1997, Wagner et al. 1997, Hasegawa et al. 2000, Horan et al. 2003)...
    • ...However, at each polymorphic position, the human GH1 gene sequence differs from at least one of the other four genes within the GH gene cluster, and the variant allele is identical with at least one of the other genes (Giordano et al. 1997)...

    K Wagneret al. Association of polymorphisms and haplotypes in the human growth hormon...

    • ...These findings and those published previously by our group (26, 27) suggest that the Polish population is homogeneous...

    Tadeusz Debniaket al. CDKN2A Common Variants and Their Association with Melanoma Risk: A Pop...

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