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Page 1
Somatic Testing on Gynecological Cancers Improve the Identification of Lynch Syndrome.
Carnevali I, Libera L, Chiaravalli A, Sahnane N, Furlan D, Viel A, Cini G, Cimetti L, Rossi T, Formenti G, Ghezzi F, Riva C, Sessa F, Tibiletti MG. Carnevali I, et al. Among authors: viel a. Int J Gynecol Cancer. 2017 Sep;27(7):1543-1549. doi: 10.1097/IGC.0000000000001010. Int J Gynecol Cancer. 2017. PMID: 28471861
Somatic mosaicism in a patient with Lynch syndrome.
Pastrello C, Fornasarig M, Pin E, Berto E, Pivetta B, Viel A. Pastrello C, et al. Among authors: viel a. Am J Med Genet A. 2009 Feb;149A(2):212-5. doi: 10.1002/ajmg.a.32620. Am J Med Genet A. 2009. PMID: 19133695
Integrated analysis of unclassified variants in mismatch repair genes.
Pastrello C, Pin E, Marroni F, Bedin C, Fornasarig M, Tibiletti MG, Oliani C, Ponz de Leon M, Urso ED, Della Puppa L, Agostini M, Viel A. Pastrello C, et al. Among authors: viel a. Genet Med. 2011 Feb;13(2):115-24. doi: 10.1097/GIM.0b013e3182011489. Genet Med. 2011. PMID: 21239990 Free article.
An American founder mutation in MLH1.
Tomsic J, Liyanarachchi S, Hampel H, Morak M, Thomas BC, Raymond VM, Chittenden A, Schackert HK, Gruber SB, Syngal S, Viel A, Holinski-Feder E, Thibodeau SN, de la Chapelle A. Tomsic J, et al. Among authors: viel a. Int J Cancer. 2012 May 1;130(9):2088-95. doi: 10.1002/ijc.26233. Epub 2011 Aug 30. Int J Cancer. 2012. PMID: 21671475 Free PMC article.
MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.
Pin E, Pastrello C, Tricarico R, Papi L, Quaia M, Fornasarig M, Carnevali I, Oliani C, Fornasin A, Agostini M, Maestro R, Barana D, Aretz S, Genuardi M, Viel A. Pin E, et al. Among authors: viel a. Int J Cancer. 2013 Mar 1;132(5):1060-9. doi: 10.1002/ijc.27761. Epub 2012 Aug 28. Int J Cancer. 2013. PMID: 22865608 Free article.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.
Osorio A, Milne RL, Kuchenbaecker K, Vaclová T, Pita G, Alonso R, Peterlongo P, Blanco I, de la Hoya M, Duran M, Díez O, Ramón Y Cajal T, Konstantopoulou I, Martínez-Bouzas C, Andrés Conejero R, Soucy P, McGuffog L, Barrowdale D, Lee A; SWE-BRCA; Arver B, Rantala J, Loman N, Ehrencrona H, Olopade OI, Beattie MS, Domchek SM, Nathanson K, Rebbeck TR, Arun BK, Karlan BY, Walsh C, Lester J, John EM, Whittemore AS, Daly MB, Southey M, Hopper J, Terry MB, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Ejlertsen B, Gerdes AM, Infante M, Herráez B, Moreno LT, Weitzel JN, Herzog J, Weeman K, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Bonanni B, Mariette F, Volorio S, Viel A, Varesco L, Papi L, Ottini L, Tibiletti MG, Radice P, Yannoukakos D, Garber J, Ellis S, Frost D, Platte R, Fineberg E, Evans G, Lalloo F, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Eccles D, Cook J, Hodgson S, Brewer C, Tischkowitz M, Douglas F, Porteous M, Side L, Walker L, Morrison P, Donaldson A, Kennedy J, Foo C, Godwin AK, Schmutzler RK, Wappenschmidt B, Rhiem K, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C, Wa… See abstract for full author list ➔ Osorio A, et al. Among authors: viel a. PLoS Genet. 2014 Apr 3;10(4):e1004256. doi: 10.1371/journal.pgen.1004256. eCollection 2014 Apr. PLoS Genet. 2014. PMID: 24698998 Free PMC article.
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
Peterlongo P, Chang-Claude J, Moysich KB, Rudolph A, Schmutzler RK, Simard J, Soucy P, Eeles RA, Easton DF, Hamann U, Wilkening S, Chen B, Rookus MA, Schmidt MK, van der Baan FH, Spurdle AB, Walker LC, Lose F, Maia AT, Montagna M, Matricardi L, Lubinski J, Jakubowska A, Gómez Garcia EB, Olopade OI, Nussbaum RL, Nathanson KL, Domchek SM, Rebbeck TR, Arun BK, Karlan BY, Orsulic S, Lester J, Chung WK, Miron A, Southey MC, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Ding YC, Neuhausen SL, Hansen TV, Gerdes AM, Ejlertsen B, Jønson L, Osorio A, Martínez-Bouzas C, Benitez J, Conway EE, Blazer KR, Weitzel JN, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Barile M, Ficarazzi F, Mariette F, Fortuzzi S, Viel A, Giannini G, Papi L, Martayan A, Tibiletti MG, Radice P, Vratimos A, Fostira F, Garber JE, Donaldson A, Brewer C, Foo C, Evans DG, Frost D, Eccles D, Brady A, Cook J, Tischkowitz M, Adlard J, Barwell J, Walker L, Izatt L, Side LE, Kennedy MJ, Rogers MT, Porteous ME, Morrison PJ, Platte R, Davidson R, Hodgson SV, Ellis S, Cole T; EMBRACE; Godwin AK, Claes K, Van Maerken T, Meindl A, Gehrig A, Sutter C, Engel C, Niederacher D, Steinemann D, Plendl H, Kast K,… See abstract for full author list ➔ Peterlongo P, et al. Among authors: viel a. Cancer Epidemiol Biomarkers Prev. 2015 Jan;24(1):308-16. doi: 10.1158/1055-9965.EPI-14-0532. Epub 2014 Oct 21. Cancer Epidemiol Biomarkers Prev. 2015. PMID: 25336561 Free PMC article.
256 results