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Genetica Medica e Oncologica

 

Area di afferenza: Genetica Medica
SSD:MED/03
Responsabile: Prof.ssa Barbara Pasini

  • Barbara Pasini

  • Patrizia Dentelli

  • Francesca Vignolo Lutati*

  • Ogliara Paola*

  • Restivo Francesca*

  • Enrico Grosso*,

  • Guido Casalis Cavalchini*

  • Flavia Palermo**

    (* frequentatori volontari DSM, ** Scuola di Specializzazione in Genetica Medica)

Prof.ssa. Barbara Pasini

  • Palazzina Ceppellini – 1° piano

  • via Santena 19, 10126 Torino (TO)

  • tel. 011-6336681 - fax. 011- 6335181

La ricerca nel settore della Genetica Medica è indirizzata allo studio dei geni e dei meccanismi patogenetici alla base di malattie ereditarie ad esordio nel bambino e nell’adulto con particolare riferimento ai tumori ereditari, alle sindromi con rischio oncologico, alla malattia di Parkinson. Il gruppo di ricerca studia inoltre l’epidemiologia genetica, le correlazioni genotipo-fenotipo, la predittività ed informatività dei test genetici, l’efficacia dei programmi di prevenzione e sorveglianza, l’applicazione in diagnostica delle nuove tecnologie (array-CGH, next-generation-sequencing, test non invasivi sul DNA fetale libero circolante).

Contenuti in corso di aggiornamento

  • Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL; CIMBA Consortium, Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen Tv, Ramón y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN, Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Izatt L, Adlard J, Donaldson A, Ellis S, Sharma P, Schmutzler RK, Wappenschmidt B, Becker A, Rhiem K, Hahnen E, Engel C, Meindl A, Engert S, Ditsch N, Arnold N, Plendl HJ, Mundhenke C, Niederacher D, Fleisch M, Sutter C, Bartram CR, Dikow N, Wang-Gohrke S, Gadzicki D, Steinemann D, Kast K, Beer M, Varon-Mateeva R, Gehrig A, Weber BH, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Houdayer C, Belotti M, Gauthier-Villars M, Damiola F, Boutry-Kryza N, Lasset C, Sobol H, Peyrat JP, Muller D, Fricker JP, Collonge-Rame MA, Mortemousque I, Nogues C, Rouleau E, Isaacs C, De Paepe A, Poppe B, Claes K, De Leeneer K, Piedmonte M, Rodriguez G, Wakely K, Boggess J, Blank SV, Basil J, Azodi M, Phillips KA, Caldes T, de la Hoya M, Romero A, Nevanlinna H, Aittomäki K, van der Hout AH, Hogervorst FB, Verhoef S, Collée JM, Seynaeve C, Oosterwijk JC, Gille JJ, Wijnen JT, Gómez Garcia EB, Kets CM, Ausems MG, Aalfs CM, Devilee P, Mensenkamp AR, Kwong A, Olah E, Papp J, Diez O, Lazaro C, Darder E, Blanco I, Salinas M, Jakubowska A, Lubinski J, Gronwald J, Jaworska-Bieniek K, Durda K, Sukiennicki G, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Złowocka-Perłowska E, Menkiszak J, Arason A, Barkardottir RB, Simard J, Laframboise R, Montagna M, Agata S, Alducci E, Peixoto A, Teixeira MR, Spurdle AB, Lee MH, Park SK, Kim SW, Friebel TM, Couch FJ, Lindor NM, Pankratz VS, Guidugli L, Wang X, Tischkowitz M, Foretova L, Vijai J, Offit K, Robson M, Rau-Murthy R, Kauff N, Fink-Retter A, Singer CF, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Berger A, Greene MH, Mai PL, Imyanitov EN, Toland AE, Senter L, Bojesen A, Pedersen IS, Skytte AB, Sunde L, Thomassen M, Moeller ST, Kruse TA, Jensen UB, Caligo MA, Aretini P, Teo SH, Selkirk CG, Hulick PJ, Andrulis I. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA. 2015;313(13):1347-61 (Scopus: 2-s2.0-84927556016, DOI: 10.1001/jama.2014.5985, PMID: 25849179)
  • Borelli I, Casalis Cavalchini GC, Del Peschio S, Micheletti M, Venesio T, Sarotto I, Allavena A, Delsedime L, Barberis MA, Mandrile G, Berchialla P, Ogliara P, Bracco C, Pasini B. A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. Fam Cancer. 2014;13(3):401-13 (WOS:000342176000009, Scopus: 2-s2.0-84907174151, DOI: 10.1007/s10689-014-9726-3, PMID: 24802709)
  • Borelli I, Barberis MA, Spina F, Cavalchini GC, Vivanet C, Balestrino L, Micheletti M, Allavena A, Sala P, Carcassi C, Pasini B. A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin. Eur J Hum Genet. 2013;21(2):154-61 (WOS:000314003300005, Scopus: 2-s2.0-84872501806, DOI: 10.1038/ejhg.2012.150, PMID: 22781090)
  • Heravi-Moussavi A, Anglesio MS, Cheng SW, Senz J, Yang W, Prentice L, Fejes AP, Chow C, Tone A, Kalloger SE, Hamel N, Roth A, Ha G, Wan AN, Maines-Bandiera S, Salamanca C, Pasini B, Clarke BA, Lee AF, Lee CH, Zhao C, Young RH, Aparicio SA, Sorensen PH, Woo MM, Boyd N, Jones SJ, Hirst M, Marra MA, Gilks B, Shah SP, Foulkes WD, Morin GB, Huntsman DG. Recurrent Somatic DICER1 Mutations in Nonepithelial Ovarian Cancers. N Engl J Med. 2012;366(3):234-42 (WOS:000299201400009, Scopus: 2-s2.0-84862908497, DOI: 10.1056/NEJMoa1102903, PMID: 22187960)
  • Foulkes WD, Bahubeshi A, Hamel N, Pasini B, Asioli S, Baynam G, Choong CS, Charles A, Frieder RP, Dishop MK, Graf N, Ekim M, Bouron-Dal Soglio D, Arseneau J, Young RH, Sabbaghian N, Srivastava A, Tischkowitz MD, Priest JR. Extending the Phenotypes Associated with DICER1 Mutations. Hum Mutat. 2011;32(12):1381-4 (WOS:000297246800009, Scopus: 2-s2.0-81255136937, DOI: 10.1002/humu.21600, PMID: 21882293)
  • Pasini B and Stratakis CA. SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma–paraganglioma syndromes. J Intern Med. 2009;266(1):19–42 Pasini B, McWhinney SR, Bei T, Matyakhina L, Stergiopoulos S, Muchow M, Boikos SA, Ferrando B, Pacak K, Assie G, Baudin E, Chompret A, Ellison JW, Briere JJ, Rustin P, Gimenez-Roqueplo AP, Eng C, Carney JA, Stratakis CA. Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet. 2008; 16(1):79-88
  • McWhinney SR, Pasini B, Stratakis CA, International Carney Triad and Carney-Stratakis Syndrome Consortium. Familial gastrointestinal stromal tumors and germ-line mutations. N Engl J Med. 2007;357(10):1054-6 (WOS:000249210800029, Scopus: 2-s2.0-34548386693)
  • Pasini B, Matyakhina L, Bei T, Muchow M, Boikos S, Ferrando B, Carney A and Stratakis CA. Multiple gastrointestinal stromal tumors caused by platelet-derived growth factor receptor gene mutations: a case associated with a germline V561D defect. J Clin Endocrinol Metab. 2007;92(9):3728-32 (WOS:000249279800060, Scopus: 2-s2.0-34548707237)
  • Carcangiu ML, Peissel B, Pasini B, Spatti GB, Radice P, Manoukian S. Incidental carcinomas in prophylactic specimens in BRCA1 and BRCA2 germ line mutation carriers with emphasis on fallopian tube lesions. Report of 6 cases and review of the literature. Am J Surg Pathol. 2006; 30(10): 1222-30
  • Finch A, Beiner M, Lubinski J, Lynch HT, Moller P, Rosen B, Murphy J, Ghadirian P, Friedman E, Foulkes WD, Kim-Sing C, Wagner T, Tung N, Couch F, Stoppa-Lyonnet D, Ainsworth P, Daly M, Pasini B, Gershoni-Baruch R, Eng C, Olopade OI, McLennan J, Karlan B, Weitzel J, Sun P, Narod SA for the Hereditary Ovarian Cancer Clinical Study Group. Salpingo-oophorectomy and the Risk of Ovarian, Fallopian Tube, and Peritoneal Cancers in Women With a BRCA1 or BRCA2 Mutation. JAMA. 2006;296(2):185-92 (WOS:000238946500024)

Contenuto in corso di aggiornamento

  

Ultimo aggiornamento: 10/06/2021 12:04
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