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Page 1
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O'Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK. Walpole S, et al. J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171. J Natl Cancer Inst. 2018. PMID: 30517737 Free PMC article. Review.
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.
Landi MT, Bishop DT, MacGregor S, Machiela MJ, Stratigos AJ, Ghiorzo P, Brossard M, Calista D, Choi J, Fargnoli MC, Zhang T, Rodolfo M, Trower AJ, Menin C, Martinez J, Hadjisavvas A, Song L, Stefanaki I, Scolyer R, Yang R, Goldstein AM, Potrony M, Kypreou KP, Pastorino L, Queirolo P, Pellegrini C, Cattaneo L, Zawistowski M, Gimenez-Xavier P, Rodriguez A, Elefanti L, Manoukian S, Rivoltini L, Smith BH, Loizidou MA, Del Regno L, Massi D, Mandala M, Khosrotehrani K, Akslen LA, Amos CI, Andresen PA, Avril MF, Azizi E, Soyer HP, Bataille V, Dalmasso B, Bowdler LM, Burdon KP, Chen WV, Codd V, Craig JE, Dębniak T, Falchi M, Fang S, Friedman E, Simi S, Galan P, Garcia-Casado Z, Gillanders EM, Gordon S, Green A, Gruis NA, Hansson J, Harland M, Harris J, Helsing P, Henders A, Hočevar M, Höiom V, Hunter D, Ingvar C, Kumar R, Lang J, Lathrop GM, Lee JE, Li X, Lubiński J, Mackie RM, Malt M, Malvehy J, McAloney K, Mohamdi H, Molven A, Moses EK, Neale RE, Novaković S, Nyholt DR, Olsson H, Orr N, Fritsche LG, Puig-Butille JA, Qureshi AA, Radford-Smith GL, Randerson-Moor J, Requena C, Rowe C, Samani NJ, Sanna M, Schadendorf D, Schulze HJ, Simms LA, Smithers M, Song F, Swerdlow AJ, van der Stoep N,… See abstract for full author list ➔ Landi MT, et al. Nat Genet. 2020 May;52(5):494-504. doi: 10.1038/s41588-020-0611-8. Epub 2020 Apr 27. Nat Genet. 2020. PMID: 32341527 Free PMC article.
Assessing Determinants of Response to PARP Inhibition in Germline ATM Mutant Melanoma.
Allavena E, Croce M, Dalmasso B, Profumo C, Rigo V, Andreotti V, Vanni I, Pellegrino B, Musolino A, Campanini N, Bruno W, Mastracci L, Zoppoli G, Tanda ET, Spagnolo F, Ghiorzo P, Pastorino L. Allavena E, et al. Int J Mol Sci. 2025 Aug 1;26(15):7420. doi: 10.3390/ijms26157420. Int J Mol Sci. 2025. PMID: 40806549 Free PMC article.
Reply to E. Hindié.
Maurichi A, Miceli R, Eriksson H, Newton-Bishop J, Nsengimana J, Chan M, Hayes AJ, Heelan K, Adams D, Patuzzo R, Barretta F, Gallino G, Harwood C, Bergamaschi D, Bennett D, Lasithiotakis K, Ghiorzo P, Dalmasso B, Manganoni A, Consoli F, Mattavelli I, Barbieri C, Leva A, Cortinovis U, Espeli V, Mangas C, Quaglino P, Ribero S, Broganelli P, Pellacani G, Longo C, Del Forno C, Borgognoni L, Sestini S, Pimpinelli N, Fortunato S, Chiarugi A, Nardini P, Morittu E, Florita A, Cossa M, Valeri B, Milione M, Pruneri G, Zoras O, Anichini A, Mortarini R, Santinami M. Maurichi A, et al. J Clin Oncol. 2020 Sep 20;38(27):3238-3240. doi: 10.1200/JCO.20.01460. Epub 2020 Jul 23. J Clin Oncol. 2020. PMID: 32701413 Free PMC article. No abstract available.
Germline pathogenic variants of cancer predisposition genes in a multicentre Italian cohort of pancreatic cancer patients.
Orsi G, Carconi C, Ghiorzo P, Carrera P, Pastorino L, Presi S, Chiaravalli M, Barbieri E, Giordano G, Sciallero S, Puccini A, Salvatore L, Cortesi L, Macchini M, Natalicchio MI, Allavena E, Pirrone C, Archibugi L, Dalmasso B, Bruno W, Tortora G, Landriscina M, Capurso G, Cascinu S, Falconi M, Reni M. Orsi G, et al. Eur J Cancer. 2024 Sep;208:114226. doi: 10.1016/j.ejca.2024.114226. Epub 2024 Jul 16. Eur J Cancer. 2024. PMID: 39029294
First international workshop of the ATM and cancer risk group (4-5 December 2019).
Lesueur F, Easton DF, Renault AL, Tavtigian SV, Bernstein JL, Kote-Jarai Z, Eeles RA, Plaseska-Karanfia D, Feliubadaló L; Spanish ATM working group; Arun B, Herold N, Versmold B, Schmutzler RK; GC-HBOC; Nguyen-Dumont T, Southey MC, Dorling L, Dunning AM, Ghiorzo P, Dalmasso BS, Cavaciuti E, Le Gal D, Roberts NJ, Dominguez-Valentin M, Rookus M, Taylor AMR, Goldstein AM, Goldgar DE; CARRIERS and Ambry Groups; Stoppa-Lyonnet D, Andrieu N. Lesueur F, et al. Fam Cancer. 2022 Apr;21(2):211-227. doi: 10.1007/s10689-021-00248-y. Epub 2021 Jun 14. Fam Cancer. 2022. PMID: 34125377 Free PMC article. Review.
A high-penetrance intergenic variant at 9p21 confers melanoma susceptibility.
Bui-Raborn LT, Pastorino L, Calista D, Hoang PH, Scales JL, Xu M, Papiernik S, Wang X, Dalmasso B, Thakur R, Pellegrini S, Yon J, Myers T, Lee CH, Williams J, Zhang H, Zhang T, Bruno W, García-Casado Z, Tanda ET, Spagnolo F, Di Prete M, Bottillo I, Manukian S, Scaini MC, Kypreou KP, Di Nardo L, Potrony M, Aguilera-Peiró P, Shahrour N, Tran TA, Yu Y, Huff CD, Scheet P, Wheless LE, Hartman RI, Liu J, Zhou W, Luo W, Vogt A, Jones KM, Hicks BD, Rodolfo M, Stefanaki I, Pellegrini C, Cota C, Menin C, Fargnoli MC, Peris K, Puig S, Nagore E, Grammatico P; Italian Melanoma Intergroup, The MelaNostrum Consortium; Shi J, Ghiorzo P, Brown KM, Landi MT. Bui-Raborn LT, et al. Res Sq [Preprint]. 2026 May 12:rs.3.rs-9636010. doi: 10.21203/rs.3.rs-9636010/v1. Res Sq. 2026. PMID: 42183343 Free PMC article. Preprint.
33 results