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The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
Figlioli G, Kvist A, Tham E, Soukupova J, Kleiblova P, Muranen TA, Andrieu N, Azzollini J, Balmaña J, Barroso A, Benítez J, Bertelsen B, Blanco A, Bonanni B, Borg Å, Brunet J, Calistri D, Calvello M, Chvojka S, Cortesi L, Darder E, Del Valle J, Diez O; ENIGMA Consortium; Eon-Marchais S, Fostira F; GENESIS Study Collaborators; Gensini F, Houdayer C, Janatova M, Kiiski JI, Konstantopoulou I, Kubelka-Sabit K, Lázaro C, Lesueur F, Manoukian S, Marcinkute R, Mickys U, Moncoutier V; SWE-BRCA Group; Myszka A, Nguyen-Dumont T, Nielsen FC, Norvilas R, Olah E, Osorio A, Papi L, Peissel B, Peixoto A, Plaseska-Karanfilska D, Pócza T, Rossing M, Rudaitis V, Santamariña M, Santos C, Smichkoska S, Southey MC, Stoppa-Lyonnet D, Teixeira M, Törngren T, Toss A, Urioste M, Vega A, Vlckova Z, Yannoukakos D, Zampiga V, Kleibl Z, Radice P, Nevanlinna H, Ehrencrona H, Janavicius R, Peterlongo P. Figlioli G, et al. Among authors: torngren t. Cancers (Basel). 2020 Jan 26;12(2):292. doi: 10.3390/cancers12020292. Cancers (Basel). 2020. PMID: 31991861 Free PMC article.
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
Catucci I, Osorio A, Arver B, Neidhardt G, Bogliolo M, Zanardi F, Riboni M, Minardi S, Pujol R, Azzollini J, Peissel B, Manoukian S, De Vecchi G, Casola S, Hauke J, Richters L, Rhiem K, Schmutzler RK, Wallander K, Törngren T, Borg Å, Radice P, Surrallés J, Hahnen E, Ehrencrona H, Kvist A, Benitez J, Peterlongo P. Catucci I, et al. Among authors: torngren t. Genet Med. 2018 Apr;20(4):452-457. doi: 10.1038/gim.2017.123. Epub 2017 Aug 24. Genet Med. 2018. PMID: 28837162 Free article.
BRCAsearch: written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer.
Nilsson MP, Törngren T, Henriksson K, Kristoffersson U, Kvist A, Silfverberg B, Borg Å, Loman N. Nilsson MP, et al. Among authors: torngren t. Breast Cancer Res Treat. 2018 Feb;168(1):117-126. doi: 10.1007/s10549-017-4584-y. Epub 2017 Nov 21. Breast Cancer Res Treat. 2018. PMID: 29164420 Free PMC article. Clinical Trial.
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: torngren t. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
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: torngren t. 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.
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
Breast Cancer Association Consortium; Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, Törngren T, Harrington PA, Baynes C, Conroy DM, Decker B, Fachal L, Mavaddat N, Ahearn T, Aittomäki K, Antonenkova NN, Arnold N, Arveux P, Ausems MGEM, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Białkowska K, Blomqvist C, Bogdanova NV, Bogdanova-Markov N, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Bremer M, Briceno I, Brüning T, Burwinkel B, Cameron DA, Camp NJ, Campbell A, Carracedo A, Castelao JE, Cessna MH, Chanock SJ, Christiansen H, Collée JM, Cordina-Duverger E, Cornelissen S, Czene K, Dörk T, Ekici AB, Engel C, Eriksson M, Fasching PA, Figueroa J, Flyger H, Försti A, Gabrielson M, Gago-Dominguez M, Georgoulias V, Gil F, Giles GG, Glendon G, Garcia EBG, Alnæs GIG, Guénel P, Hadjisavvas A, Haeberle L, Hahnen E, Hall P, Hamann U, Harkness EF, Hartikainen JM, Hartman M, He W, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Hollestelle A, Ho WK, Hooning MJ, Howell A, Hump… See abstract for full author list ➔ Breast Cancer Association Consortium, et al. Among authors: torngren t. N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20. N Engl J Med. 2021. PMID: 33471991 Free PMC article.
38 results