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Page 1
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… See abstract for full author list ➔ Parsons MT, et al. Among authors: kvist a. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Promoter usage of BRCA1-IRIS.
Kvist A, Rovira C, Borg A, Medstrand P. Kvist A, et al. Nat Cell Biol. 2005 Apr;7(4):325-6; author rply 326. doi: 10.1038/ncb0405-325. Nat Cell Biol. 2005. PMID: 15803125 No abstract available.
COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration.
COMPLEXO; Southey MC, Park DJ, Nguyen-Dumont T, Campbell I, Thompson E, Trainer AH, Chenevix-Trench G, Simard J, Dumont M, Soucy P, Thomassen M, Jønson L, Pedersen IS, Hansen TV, Nevanlinna H, Khan S, Sinilnikova O, Mazoyer S, Lesueur F, Damiola F, Schmutzler R, Meindl A, Hahnen E, Dufault MR, Chris Chan T, Kwong A, Barkardóttir R, Radice P, Peterlongo P, Devilee P, Hilbers F, Benitez J, Kvist A, Törngren T, Easton D, Hunter D, Lindstrom S, Kraft P, Zheng W, Gao YT, Long J, Ramus S, Feng BJ, Weitzel JN, Nathanson K, Offit K, Joseph V, Robson M, Schrader K, Wang S, Kim YC, Lynch H, Snyder C, Tavtigian S, Neuhausen S, Couch FJ, Goldgar DE. COMPLEXO, et al. Among authors: kvist a. Breast Cancer Res. 2013 Jun 21;15(3):402. doi: 10.1186/bcr3434. Breast Cancer Res. 2013. PMID: 23809231 Free PMC article.
Molecular stratification of metastatic melanoma using gene expression profiling: Prediction of survival outcome and benefit from molecular targeted therapy.
Cirenajwis H, Ekedahl H, Lauss M, Harbst K, Carneiro A, Enoksson J, Rosengren F, Werner-Hartman L, Törngren T, Kvist A, Fredlund E, Bendahl PO, Jirström K, Lundgren L, Howlin J, Borg Å, Gruvberger-Saal SK, Saal LH, Nielsen K, Ringnér M, Tsao H, Olsson H, Ingvar C, Staaf J, Jönsson G. Cirenajwis H, et al. Among authors: kvist a. Oncotarget. 2015 May 20;6(14):12297-309. doi: 10.18632/oncotarget.3655. Oncotarget. 2015. PMID: 25909218 Free PMC article.
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: kvist a. 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.
Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic.
Winter C, Nilsson MP, Olsson E, George AM, Chen Y, Kvist A, Törngren T, Vallon-Christersson J, Hegardt C, Häkkinen J, Jönsson G, Grabau D, Malmberg M, Kristoffersson U, Rehn M, Gruvberger-Saal SK, Larsson C, Borg Å, Loman N, Saal LH. Winter C, et al. Among authors: kvist a. Ann Oncol. 2016 Aug;27(8):1532-8. doi: 10.1093/annonc/mdw209. Epub 2016 May 18. Ann Oncol. 2016. PMID: 27194814 Free PMC article.
NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.
Cirenajwis H, Lauss M, Ekedahl H, Törngren T, Kvist A, Saal LH, Olsson H, Staaf J, Carneiro A, Ingvar C, Harbst K, Hayward NK, Jönsson G. Cirenajwis H, et al. Among authors: kvist a. Mol Oncol. 2017 Apr;11(4):438-451. doi: 10.1002/1878-0261.12050. Epub 2017 Mar 24. Mol Oncol. 2017. PMID: 28267273 Free PMC article.
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