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Breast Cancer Research and Treatment

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01-07-2012 | Letter to the Editor

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

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

Published in: Breast Cancer Research and Treatment | Issue 2/2012

Excerpt

To the editor, …

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):410–414PubMedCrossRef

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 PubMedCrossRef

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

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

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):811–817PubMedCrossRef

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):338–345PubMedCrossRef

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):10–15PubMedCrossRef

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):619–627PubMedCrossRef

Title: High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?
Authors: Miriam J. Smith
Franchesca L. Gifford
Fiona Lalloo
William G. Newman
D. Gareth R. Evans
Publication date: 01-07-2012
Publisher: Springer US
Published in: Breast Cancer Research and Treatment / Issue 2/2012
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-012-2130-5

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