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. 1997 Jul;34(7):592-3.
doi: 10.1136/jmg.34.7.592.

The 12 Base Pair Duplication/Insertion Alteration Could Be a Regulatory Mutation

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Free PMC article

The 12 Base Pair Duplication/Insertion Alteration Could Be a Regulatory Mutation

M Robledo et al. J Med Genet. .
Free PMC article

Abstract

A wide array of mutations now numbering more than 200 have been identified in the BRCA1 gene, one of the two breast cancer susceptibility genes identified so far. In addition, there have been several variants described but it is not known if they really represent functionally significant mutations of the BRCA1 gene. We report evidence to show that the duplication/ insertion of 12 base pairs in intron 20 could have a real effect on expression of the BRCA1 gene, although it was also present in 1% of our control population.

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References

    1. Am J Hum Genet. 1996 Apr;58(4):881-5 - PubMed
    1. Nat Genet. 1994 Dec;8(4):399-404 - PubMed
    1. N Engl J Med. 1996 Jan 18;334(3):137-42 - PubMed
    1. Cancer Res. 1995 Jul 15;55(14):2998-3002 - PubMed

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