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564 results

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Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TV, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB. de la Hoya M, et al. Among authors: arnold n. Hum Mol Genet. 2016 Jun 1;25(11):2256-2268. doi: 10.1093/hmg/ddw094. Epub 2016 Mar 23. Hum Mol Genet. 2016. PMID: 27008870 Free PMC article.
Identification of specific BRCA1 and BRCA2 variants by DHPLC.
Gross E, Arnold N, Pfeifer K, Bandick K, Kiechle M. Gross E, et al. Among authors: arnold n. Hum Mutat. 2000 Oct;16(4):345-53. doi: 10.1002/1098-1004(200010)16:4<345::AID-HUMU7>3.0.CO;2-#. Hum Mutat. 2000. PMID: 11013445
Limited relevance of the CHEK2 gene in hereditary breast cancer.
Dufault MR, Betz B, Wappenschmidt B, Hofmann W, Bandick K, Golla A, Pietschmann A, Nestle-Krämling C, Rhiem K, Hüttner C, von Lindern C, Dall P, Kiechle M, Untch M, Jonat W, Meindl A, Scherneck S, Niederacher D, Schmutzler RK, Arnold N. Dufault MR, et al. Among authors: arnold n. Int J Cancer. 2004 Jun 20;110(3):320-5. doi: 10.1002/ijc.20073. Int J Cancer. 2004. PMID: 15095295 Free article.
Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer.
Wirtenberger M, Frank B, Hemminki K, Klaes R, Schmutzler RK, Wappenschmidt B, Meindl A, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, Burwinkel B. Wirtenberger M, et al. Among authors: arnold n. Carcinogenesis. 2006 Aug;27(8):1655-60. doi: 10.1093/carcin/bgi374. Epub 2006 Feb 25. Carcinogenesis. 2006. PMID: 16501249 Clinical Trial.
Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer.
Wirtenberger M, Tchatchou S, Hemminki K, Schmutzhard J, Sutter C, Schmutzler RK, Meindl A, Wappenschmidt B, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, Burwinkel B. Wirtenberger M, et al. Among authors: arnold n. Carcinogenesis. 2006 Nov;27(11):2201-8. doi: 10.1093/carcin/bgl067. Epub 2006 May 15. Carcinogenesis. 2006. PMID: 16704985
The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer.
Wirtenberger M, Schmutzhard J, Hemminki K, Meindl A, Sutter C, Schmutzler RK, Wappenschmidt B, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, Burwinkel B. Wirtenberger M, et al. Among authors: arnold n. Carcinogenesis. 2007 Feb;28(2):423-6. doi: 10.1093/carcin/bgl164. Epub 2006 Sep 6. Carcinogenesis. 2007. PMID: 16956908
Polymorphisms in the Janus kinase 2 (JAK)/signal transducer and activator of transcription (STAT) genes: putative association of the STAT gene region with familial breast cancer.
Vaclavicek A, Bermejo JL, Schmutzler RK, Sutter C, Wappenschmidt B, Meindl A, Kiechle M, Arnold N, Weber BH, Niederacher D, Burwinkel B, Bartram CR, Hemminki K, Försti A. Vaclavicek A, et al. Among authors: arnold n. Endocr Relat Cancer. 2007 Jun;14(2):267-77. doi: 10.1677/ERC-06-0077. Endocr Relat Cancer. 2007. PMID: 17639043
564 results