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. 2004 Feb 15;2(1):37-43.
doi: 10.1186/1897-4287-2-1-37.

DNA double strand break repair and its association with inherited predispositions to breast cancer

Rodney J Scott  1
Affiliations

DNA double strand break repair and its association with inherited predispositions to breast cancer

Rodney J Scott. Hered Cancer Clin Pract. .

Abstract

Mutations in BRCA1 account for the majority of familial aggregations of early onset breast and ovarian cancer (~70%) and about 1/5 of all early onset breast cancer families; in contrast, mutations in BRCA2 account for a smaller proportion of breast/ovarian cancer families and a similar proportion of early onset breast cancer families. BRCA2 has also been shown to be associated with a much more pleiotropic disease spectrum compared to BRCA1. Since the identification of both BRCA1 and BRCA2 investigations into the functions of these genes have revealed that both are associated with the maintenance of genomic integrity via their apparent roles in cellular response to DNA damage, especially their involvement in the process of double strand DNA break repair. This review will focus on the specific roles of both genes and how functional differences may account for the diverse clinical findings observed between families that harbour BRCA1 or BRCA2 mutations.

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Figures

Figure 1
Figure 1
Schematic representation of the various binding sites on BRCA1 protein.
Figure 2
Figure 2
Schematic representation of the various binding sites on BRCA2 protein.
See this image and copyright information in PMC

References

    1. Kinzler KW, Vogelstein B. Cancer-susceptibility genes. Gatekeepers and caretakers. Nature. 1997;386:761–762. doi: 10.1038/386761a0. - DOI - PubMed
    1. Levitt NC, Hickson ID. Caretaker tumour suppressor genes that defend genome integrity. Trends in Mol Med. 2002;8:179–186. doi: 10.1016/S1471-4914(02)02298-0. - DOI - PubMed
    1. Thompson LH, Schild D. Recombination DNA repair and human disease. Mutat Res. 2002;509:49–78. - PubMed
    1. Peltomaki P, Aaltonen LA, Sistonen P, Pylkkanen L, Mecklin JP, Jarvinen H, Green JS, Jass JR, Weber JL, Leach FS, Petersen GM, Hamilton SR, de la Chapelle A, Vogelstein B. Genetic mapping of a locus predisposing to human colorectal cancer. Science. 1993;260:810–812. doi: 10.1126/science.8484120. - DOI - PubMed
    1. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, Bell R, Rosenthal J, Hussey Ch, Tran T, McClure M, Frye Ch, Hattier T, Phelps R, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray Ch, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow PK, Norris FH, Helvering L, Morrison P, Rosteck P, Lai M, Barrett JC, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar D, Wiseman R, Kamb A, Skolnick MH. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266:66–71. doi: 10.1126/science.7545954. - DOI - PubMed

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