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Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
Tischkowitz M, Hamel N, Carvalho MA, Birrane G, Soni A, van Beers EH, Joosse SA, Wong N, Novak D, Quenneville LA, Grist SA; kConFab; Nederlof PM, Goldgar DE, Tavtigian SV, Monteiro AN, Ladias JA, Foulkes WD. Tischkowitz M, et al. Among authors: nederlof pm. Eur J Hum Genet. 2008 Jul;16(7):820-32. doi: 10.1038/ejhg.2008.13. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285836 Free PMC article.
Analysis of PALB2/FANCN-associated breast cancer families.
Tischkowitz M, Xia B, Sabbaghian N, Reis-Filho JS, Hamel N, Li G, van Beers EH, Li L, Khalil T, Quenneville LA, Omeroglu A, Poll A, Lepage P, Wong N, Nederlof PM, Ashworth A, Tonin PN, Narod SA, Livingston DM, Foulkes WD. Tischkowitz M, et al. Among authors: nederlof pm. Proc Natl Acad Sci U S A. 2007 Apr 17;104(16):6788-93. doi: 10.1073/pnas.0701724104. Epub 2007 Apr 9. Proc Natl Acad Sci U S A. 2007. PMID: 17420451 Free PMC article.
Array-CGH and breast cancer.
van Beers EH, Nederlof PM. van Beers EH, et al. Among authors: nederlof pm. Breast Cancer Res. 2006;8(3):210. doi: 10.1186/bcr1510. Epub 2006 Jun 30. Breast Cancer Res. 2006. PMID: 16817944 Free PMC article. Review.
Prediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with array-CGH.
Joosse SA, van Beers EH, Tielen IH, Horlings H, Peterse JL, Hoogerbrugge N, Ligtenberg MJ, Wessels LF, Axwijk P, Verhoef S, Hogervorst FB, Nederlof PM. Joosse SA, et al. Among authors: nederlof pm. Breast Cancer Res Treat. 2009 Aug;116(3):479-89. doi: 10.1007/s10549-008-0117-z. Epub 2008 Aug 14. Breast Cancer Res Treat. 2009. PMID: 18704682
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.
Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE; ENIGMA. Spurdle AB, et al. Hum Mutat. 2012 Jan;33(1):2-7. doi: 10.1002/humu.21628. Epub 2011 Nov 3. Hum Mutat. 2012. PMID: 21990146 Free PMC article.
Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality.
van den Ouweland AM, Dinjens WN, Dorssers LC, van Veghel-Plandsoen MM, Brüggenwirth HT, Withagen-Hermans CJ, Collée JM, Joosse SA, Terlouw-Kromosoeto JN, Nederlof PM. van den Ouweland AM, et al. Among authors: nederlof pm. Genet Test Mol Biomarkers. 2009 Jun;13(3):399-406. doi: 10.1089/gtmb.2008.0155. Genet Test Mol Biomarkers. 2009. PMID: 19405878
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