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Page 1
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE; Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators; Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J… See abstract for full author list ➔ Rebbeck TR, et al. Among authors: schmidt ay. Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12. Hum Mutat. 2018. PMID: 29446198 Free PMC article.
A Danish national effort of BRCA1/2 variant classification.
Pedersen IS, Schmidt AY, Bertelsen B, Ernst A, Andersen CLT, Kruse T, Rossing M, Thomassen M. Pedersen IS, et al. Among authors: schmidt ay. Acta Oncol. 2018 Jan;57(1):159-162. doi: 10.1080/0284186X.2017.1400693. Epub 2017 Nov 23. Acta Oncol. 2018. PMID: 29168416 No abstract available.
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Colombo M, Lòpez-Perolio I, Meeks HD, Caleca L, Parsons MT, Li H, De Vecchi G, Tudini E, Foglia C, Mondini P, Manoukian S, Behar R, Garcia EBG, Meindl A, Montagna M, Niederacher D, Schmidt AY, Varesco L, Wappenschmidt B, Bolla MK, Dennis J, Michailidou K, Wang Q, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Beeghly-Fadel A, Benitez J, Boeckx B, Bogdanova NV, Bojesen SE, Bonanni B, Brauch H, Brenner H, Burwinkel B, Chang-Claude J, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Devilee P, Dörk T, Eriksson M, Fasching PA, Figueroa J, Fletcher O, Flyger H, Gabrielson M, García-Closas M, Giles GG, González-Neira A, Guénel P, Haiman CA, Hall P, Hamann U, Hartman M, Hauke J, Hollestelle A, Hopper JL, Jakubowska A, Jung A, Kosma VM, Lambrechts D, Le Marchand L, Lindblom A, Lubinski J, Mannermaa A, Margolin S, Miao H, Milne RL, Neuhausen SL, Nevanlinna H, Olson JE, Peterlongo P, Peto J, Pylkäs K, Sawyer EJ, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, See MH, Southey MC, Swerdlow A, Teo SH, Toland AE, Tomlinson I, Truong T, van Asperen CJ, van den Ouweland AMW, van der Kolk LE, Winqvist R, Yannoukakos D, Zheng W; kConFab/AOCS Investigators; Dunn… See abstract for full author list ➔ Colombo M, et al. Among authors: schmidt mk, schmidt ay. Hum Mutat. 2018 May;39(5):729-741. doi: 10.1002/humu.23411. Epub 2018 Apr 6. Hum Mutat. 2018. PMID: 29460995 Free PMC article.
The Number of Signaling Pathways Altered by Driver Mutations in Chronic Lymphocytic Leukemia Impacts Disease Outcome.
Brieghel C, da Cunha-Bang C, Yde CW, Schmidt AY, Kinalis S, Nadeu F, Andersen MA, Jacobsen LO, Andersen MK, Pedersen LB, Delgado J, Baumann T, Mattsson M, Mansouri L, Rosenquist R, Campo E, Nielsen FC, Niemann CU. Brieghel C, et al. Among authors: schmidt ay. Clin Cancer Res. 2020 Mar 15;26(6):1507-1515. doi: 10.1158/1078-0432.CCR-18-4158. Epub 2020 Jan 9. Clin Cancer Res. 2020. PMID: 31919133
Extensive genomic analysis in patients with KRAS-mutated solid tumors shows high frequencies of concurrent alterations and potential targets but has limited clinical impact.
Jacobsen IC, Spanggaard I, Højgaard M, Belcaid L, Qvortrup C, Yde CW, Schmidt AY, Nielsen FC, Willemoe GL, Dam MS, Lassen U, Staal Rohrberg K. Jacobsen IC, et al. Among authors: schmidt ay. Acta Oncol. 2022 Dec;61(12):1499-1506. doi: 10.1080/0284186X.2022.2156809. Epub 2022 Dec 18. Acta Oncol. 2022. PMID: 36529989
Importance of Comprehensive Molecular Profiling for Clinical Outcome in Children With Recurrent Cancer.
Østrup O, Nysom K, Scheie D, Schmidt AY, Mathiasen R, Hjalgrim LL, Olsen TE, Skjøth-Rasmussen J, Henriksen BM, Nielsen FC, Wehner PS, Schrøder H, Sehested AM, Rechnitzer C, Rossing M. Østrup O, et al. Among authors: schmidt ay. Front Pediatr. 2018 Apr 20;6:114. doi: 10.3389/fped.2018.00114. eCollection 2018. Front Pediatr. 2018. PMID: 29732366 Free PMC article.
15 results