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High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?

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References

  1. Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D, Freund M, Lichtner P, Hartmann L, Schaal H, Ramser J, Honisch E, Kubisch C, Wichmann HE, Kast K, Deissler H, Engel C, Müller-Myhsok B, Neveling K, Kiechle M, Mathew CG, Schindler D, Schmutzler RK, Hanenberg H (2010) Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 42(5):410–414

    Article  PubMed  CAS  Google Scholar 

  2. Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Breast Cancer Susceptibility Collaboration (UK), Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N (2011) Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet 43(9):879–882. doi:10.1038/ng.893

    Article  PubMed  CAS  Google Scholar 

  3. Loveday C, Turnbull C, Ruark E, Xicola R, Ramsay E, Hughes D, Warren- Perry M, Snape K, Breast Cancer Susceptibility Collaboration (UK), Eccles D, Evans DG, Renwick A, Renwick A, Seal S, Reis-Filho JS, Antoniou AC, Rahman N (2012) Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat Genet 44(5):475–476

  4. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BAJ, Gayther SA, Birch JM, Lindblom A, Stoppa-Lyonnet D, Bignon Y, Borg A, Hamann U, Haites N, Scott RJ, Maugard CM, Vasen H, Seitz S, Cannon-Albright LA, Schofield A, Zelada-Hedman M and The Breast Cancer Linkage Consortium (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 62(3):676–689

  5. Evans DG, Lalloo F, Cramer A, Jones E, Knox F, Amir E, Howell A (2009) Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing. J Med Genet 46(12):811–817

    Article  PubMed  CAS  Google Scholar 

  6. Evans DGR, Young K, Bulman M, Shenton A, Lalloo F (2008) Mutation testing for BRCA1/2 in ovarian cancer families: use of histology to predict status. Clin Genet 73(4):338–345

    Article  PubMed  CAS  Google Scholar 

  7. Smith A, Moran A, Boyd MC, Bulman M, Shenton A, Smith L, Iddenden I, Woodward E, Lalloo F, Rahman N, Maher ER, Evans DGR (2007) The trouble with phenocopies: are those testing negative for a family BRCA1/2 mutation really at population risk? J Med Genet 44(1):10–15

    Article  PubMed  CAS  Google Scholar 

  8. Gerhardus A, Schleberger H, Schlegelberger B, Gadzicki D (2007) Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review. Eur J Hum Genet 15(6):619–627

    Article  PubMed  CAS  Google Scholar 

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Acknowledgments

D. G. E., W. G. N. and F. L. are supported by the NIHR Biomedical Research Centre, Manchester. Additional grant support was from The Genesis Breast Cancer Prevention Appeal. We would also like to thank Prof Nazneen Rahman and her team at ICR for supplying us with the RAD51D results and contributing towards RAD51C testing.

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Authors and Affiliations

  1. Department of Genetic Medicine, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, The University of Manchester, St. Mary’s Hospital, Manchester, M13 9WL, UK

    Miriam J. Smith, Franchesca L. Gifford, Fiona Lalloo, William G. Newman & D. Gareth R. Evans

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  1. Miriam J. Smith
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  2. Franchesca L. Gifford
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  3. Fiona Lalloo
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  4. William G. Newman
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  5. D. Gareth R. Evans
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Correspondence to D. Gareth R. Evans.

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Smith, M.J., Gifford, F.L., Lalloo, F. et al. High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?. Breast Cancer Res Treat 134, 895–897 (2012). https://doi.org/10.1007/s10549-012-2130-5

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  • DOI: https://doi.org/10.1007/s10549-012-2130-5

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