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FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, Marin M, Damiola F, Bernard L, Pensotti V, Volorio S, Dall'Olio V, Meindl A, Bartram C, Sutter C, Surowy H, Sornin V, Dondon MG, Eon-Marchais S, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM; GENESIS; Mitchell G, James PA, Thompson E; kConFab; SWE-BRCA; Marchetti M, Verzeroli C, Tartari C, Capone GL, Putignano AL, Genuardi M, Medici V, Marchi I, Federico M, Tognazzo S, Matricardi L, Agata S, Dolcetti R, Della Puppa L, Cini G, Gismondi V, Viassolo V, Perfumo C, Mencarelli MA, Baldassarri M, Peissel B, Roversi G, Silvestri V, Rizzolo P, Spina F, Vivanet C, Tibiletti MG, Caligo MA, Gambino G, Tommasi S, Pilato B, Tondini C, Corna C, Bonanni B, Barile M, Osorio A, Benitez J, Balestrino L, Ottini L, Manoukian S, Pierotti MA, Renieri A, Varesco L, Couch FJ, Wang X, Devilee P, Hilbers FS, van Asperen CJ, Viel A, Montagna M, Cortesi L, Diez O, Balmaña J, Hauke J, Schmutzler RK, Papi L, Pujana MA, Lázaro C, Falanga A, Offit K, Vijai J, Campbell I, Burwinkel B, Kvist A, Ehrencrona H, Mazoyer S, Pizzamiglio S, Verderio P, Surralles J, Rogan PK, Radice P. Peterlongo P, et al. Among authors: schmutzler rk. Hum Mol Genet. 2015 Sep 15;24(18):5345-55. doi: 10.1093/hmg/ddv251. Epub 2015 Jun 30. Hum Mol Genet. 2015. PMID: 26130695 Free PMC article.
[Counselling, genetic testing and prevention in women with hereditary breast- and ovarian cancer. Interdisciplinary recommendations of the consortium "Hereditary Breast- and Ovarian Cancer" of the German Cancer AiD].
Schmutzler R, Schlegelberger B, Meindl A, Gerber WD, Kiechle M; Hereditary Breast- and Ovarian Cancer Consortium, German Cancer AiD. Schmutzler R, et al. Zentralbl Gynakol. 2003 Dec;125(12):494-506. doi: 10.1055/s-2003-44815. Zentralbl Gynakol. 2003. PMID: 14755360 German.
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: schmutzler rk. Int J Cancer. 2004 Jun 20;110(3):320-5. doi: 10.1002/ijc.20073. Int J Cancer. 2004. PMID: 15095295 Free article.
Association of NCOA3 polymorphisms with breast cancer risk.
Burwinkel B, Wirtenberger M, Klaes R, Schmutzler RK, Grzybowska E, Försti A, Frank B, Bermejo JL, Bugert P, Wappenschmidt B, Butkiewicz D, Pamula J, Pekala W, Zientek H, Mielzynska D, Siwinska E, Bartram CR, Hemminki K. Burwinkel B, et al. Among authors: schmutzler rk. Clin Cancer Res. 2005 Mar 15;11(6):2169-74. doi: 10.1158/1078-0432.CCR-04-1621. Clin Cancer Res. 2005. PMID: 15788663
c-MYC Asn11Ser is associated with increased risk for familial breast cancer.
Wirtenberger M, Hemminki K, Försti A, Klaes R, Schmutzler RK, Grzybowska E, Bermejo JL, Wappenschmidt B, Bugert P, Butkiewicz D, Pamula J, Pekala W, Zientek H, Bartram CR, Burwinkel B. Wirtenberger M, et al. Among authors: schmutzler rk. Int J Cancer. 2005 Nov 20;117(4):638-42. doi: 10.1002/ijc.21225. Int J Cancer. 2005. PMID: 15929079 Free article.
TP53-binding protein variants and breast cancer risk: a case-control study.
Frank B, Hemminki K, Bermejo JL, Klaes R, Bugert P, Wappenschmidt B, Schmutzler RK, Burwinkel B. Frank B, et al. Among authors: schmutzler rk. Breast Cancer Res. 2005;7(4):R502-5. doi: 10.1186/bcr1038. Epub 2005 May 6. Breast Cancer Res. 2005. PMID: 15987456 Free PMC article.
410 results