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Page 1
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
Shimelis H, Mesman RLS, Von Nicolai C, Ehlen A, Guidugli L, Martin C, Calléja FMGR, Meeks H, Hallberg E, Hinton J, Lilyquist J, Hu C, Aalfs CM, Aittomäki K, Andrulis I, Anton-Culver H, Arndt V, Beckmann MW, Benitez J, Bogdanova NV, Bojesen SE, Bolla MK, Borresen-Dale AL, Brauch H, Brennan P, Brenner H, Broeks A, Brouwers B, Brüning T, Burwinkel B, Chang-Claude J, Chenevix-Trench G, Cheng CY, Choi JY, Collée JM, Cox A, Cross SS, Czene K, Darabi H, Dennis J, Dörk T, Dos-Santos-Silva I, Dunning AM, Fasching PA, Figueroa J, Flyger H, García-Closas M, Giles GG, Glendon G, Guénel P, Haiman CA, Hall P, Hamann U, Hartman M, Hogervorst FB, Hollestelle A, Hopper JL, Ito H, Jakubowska A, Kang D, Kosma VM, Kristensen V, Lai KN, Lambrechts D, Marchand LL, Li J, Lindblom A, Lophatananon A, Lubinski J, Machackova E, Mannermaa A, Margolin S, Marme F, Matsuo K, Miao H, Michailidou K, Milne RL, Muir K, Neuhausen SL, Nevanlinna H, Olson JE, Olswold C, Oosterwijk JJC, Osorio A, Peterlongo P, Peto J, Pharoah PDP, Pylkäs K, Radice P, Rashid MU, Rhenius V, Rudolph A, Sangrajrang S, Sawyer EJ, Schmidt MK, Schoemaker MJ, Seynaeve C, Shah M, Shen CY, Shrubsole M, Shu XO, Slager S, Southey MC, Stram DO, Swe… See abstract for full author list ➔ Shimelis H, et al. Among authors: moghadasi s. Cancer Res. 2017 Jun 1;77(11):2789-2799. doi: 10.1158/0008-5472.CAN-16-2568. Epub 2017 Mar 10. Cancer Res. 2017. PMID: 28283652 Free PMC article.
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
Moghadasi S, Meeks HD, Vreeswijk MP, Janssen LA, Borg Å, Ehrencrona H, Paulsson-Karlsson Y, Wappenschmidt B, Engel C, Gehrig A, Arnold N, Hansen TVO, Thomassen M, Jensen UB, Kruse TA, Ejlertsen B, Gerdes AM, Pedersen IS, Caputo SM, Couch F, Hallberg EJ, van den Ouweland AM, Collée MJ, Teugels E, Adank MA, van der Luijt RB, Mensenkamp AR, Oosterwijk JC, Blok MJ, Janin N, Claes KB, Tucker K, Viassolo V, Toland AE, Eccles DE, Devilee P, Van Asperen CJ, Spurdle AB, Goldgar DE, García EG. Moghadasi S, et al. J Med Genet. 2018 Jan;55(1):15-20. doi: 10.1136/jmedgenet-2017-104560. Epub 2017 May 10. J Med Genet. 2018. PMID: 28490613
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A,… See abstract for full author list ➔ Parsons MT, et al. Among authors: moghadasi s. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays.
Bouwman P, van der Heijden I, van der Gulden H, de Bruijn R, Braspenning ME, Moghadasi S, Wessels LFA; Dutch-Belgian VUS workgroup; Vreeswijk MPG, Jonkers J. Bouwman P, et al. Among authors: moghadasi s. Clin Cancer Res. 2020 Sep 1;26(17):4559-4568. doi: 10.1158/1078-0432.CCR-20-0255. Epub 2020 Jun 16. Clin Cancer Res. 2020. PMID: 32546644
Performance of BRCA1/2 mutation prediction models in male breast cancer patients.
Moghadasi S, Grundeken V, Janssen LAM, Dijkstra NH, Rodríguez-Girondo M, van Zelst-Stams WAG, Oosterwijk JC, Ausems MGEM, Oldenburg RA, Adank MA, Blom EW, Ruijs MWG, van Os TAM, van Deurzen CHM, Martens JWM, Schroder CP, Wijnen JT, Vreeswijk MPG, van Asperen CJ. Moghadasi S, et al. Clin Genet. 2018 Jan;93(1):52-59. doi: 10.1111/cge.13065. Epub 2017 Sep 25. Clin Genet. 2018. PMID: 28589637
Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.
Nielsen SM, Eccles DM, Romero IL, Al-Mulla F, Balmaña J, Biancolella M, Bslok R, Caligo MA, Calvello M, Capone GL, Cavalli P, Chan TLC, Claes KBM, Cortesi L, Couch FJ, de la Hoya M, De Toffol S, Diez O, Domchek SM, Eeles R, Efremidis A, Fostira F, Goldgar D, Hadjisavvas A, Hansen TVO, Hirasawa A, Houdayer C, Kleiblova P, Krieger S, Lázaro C, Loizidou M, Manoukian S, Mensenkamp AR, Moghadasi S, Monteiro AN, Mori L, Morrow A, Naldi N, Nielsen HR, Olopade OI, Pachter NS, Palmero EI, Pedersen IS, Piane M, Puzzo M, Robson M, Rossing M, Sini MC, Solano A, Soukupova J, Tedaldi G, Teixeira M, Thomassen M, Tibiletti MG, Toland A, Törngren T, Vaccari E, Varesco L, Vega A, Wallis Y, Wappenschmidt B, Weitzel J, Spurdle AB, De Nicolo A, Gómez-García EB. Nielsen SM, et al. Among authors: moghadasi s. JCO Precis Oncol. 2018;2:PO.18.00091. doi: 10.1200/PO.18.00091. Epub 2018 Oct 26. JCO Precis Oncol. 2018. PMID: 31517176 Free PMC article.
Correction: Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays.
Bouwman P, van der Heijden I, van der Gulden H, de Bruijn R, Braspenning ME, Moghadasi S, Wessels LFA; Dutch-Belgian VUS workgroup; Vreeswijk MPG, Jonkers J. Bouwman P, et al. Among authors: moghadasi s. Clin Cancer Res. 2022 Oct 14;28(20):4588. doi: 10.1158/1078-0432.CCR-22-2662. Clin Cancer Res. 2022. PMID: 36239017 No abstract available.
37 results