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Page 1
Germline Elongator mutations in Sonic Hedgehog medulloblastoma.
Waszak SM, Robinson GW, Gudenas BL, Smith KS, Forget A, Kojic M, Garcia-Lopez J, Hadley J, Hamilton KV, Indersie E, Buchhalter I, Kerssemakers J, Jäger N, Sharma T, Rausch T, Kool M, Sturm D, Jones DTW, Vasilyeva A, Tatevossian RG, Neale G, Lombard B, Loew D, Nakitandwe J, Rusch M, Bowers DC, Bendel A, Partap S, Chintagumpala M, Crawford J, Gottardo NG, Smith A, Dufour C, Rutkowski S, Eggen T, Wesenberg F, Kjaerheim K, Feychting M, Lannering B, Schüz J, Johansen C, Andersen TV, Röösli M, Kuehni CE, Grotzer M, Remke M, Puget S, Pajtler KW, Milde T, Witt O, Ryzhova M, Korshunov A, Orr BA, Ellison DW, Brugieres L, Lichter P, Nichols KE, Gajjar A, Wainwright BJ, Ayrault O, Korbel JO, Northcott PA, Pfister SM. Waszak SM, et al. Among authors: brugieres l. Nature. 2020 Apr;580(7803):396-401. doi: 10.1038/s41586-020-2164-5. Epub 2020 Apr 1. Nature. 2020. PMID: 32296180 Free PMC article.
P53 germline mutations in childhood cancers and cancer risk for carrier individuals.
Chompret A, Brugières L, Ronsin M, Gardes M, Dessarps-Freichey F, Abel A, Hua D, Ligot L, Dondon MG, Bressac-de Paillerets B, Frébourg T, Lemerle J, Bonaïti-Pellié C, Feunteun J. Chompret A, et al. Among authors: brugieres l. Br J Cancer. 2000 Jun;82(12):1932-7. doi: 10.1054/bjoc.2000.1167. Br J Cancer. 2000. PMID: 10864200 Free PMC article.
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.
Janoueix-Lerosey I, Lequin D, Brugières L, Ribeiro A, de Pontual L, Combaret V, Raynal V, Puisieux A, Schleiermacher G, Pierron G, Valteau-Couanet D, Frebourg T, Michon J, Lyonnet S, Amiel J, Delattre O. Janoueix-Lerosey I, et al. Among authors: brugieres l. Nature. 2008 Oct 16;455(7215):967-70. doi: 10.1038/nature07398. Nature. 2008. PMID: 18923523
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardière A, Molinié V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugières L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanché H, Zelenika D, Galan P; French Familial Melanoma Study Group; Aubin F, Bachollet B, Becuwe C, Berthet P, Bignon YJ, Bonadona V, Bonafe JL, Bonnet-Dupeyron MN, Cambazard F, Chevrant-Breton J, Coupier I, Dalac S, Demange L, d'Incan M, Dugast C, Faivre L, Vincent-Fétita L, Gauthier-Villars M, Gilbert B, Grange F, Grob JJ, Humbert P, Janin N, Joly P, Kerob D, Lasset C, Leroux D, Levang J, Limacher JM, Livideanu C, Longy M, Lortholary A, Stoppa-Lyonnet D, Mansard S, Mansuy L, Marrou K, Matéus C, Maugard C, Meyer N, Nogues C, Souteyrand P, Venat-Bouvet L, Zattara H, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B. Bertolotto C, et al. Among authors: brugieres l. Nature. 2011 Oct 19;480(7375):94-8. doi: 10.1038/nature10539. Nature. 2011. PMID: 22012259
Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma.
Bourdeaut F, Miquel C, Richer W, Grill J, Zerah M, Grison C, Pierron G, Amiel J, Krucker C, Radvanyi F, Brugieres L, Delattre O. Bourdeaut F, et al. Among authors: brugieres l. Pediatr Blood Cancer. 2014 Feb;61(2):383-6. doi: 10.1002/pbc.24765. Epub 2013 Sep 20. Pediatr Blood Cancer. 2014. PMID: 24115570
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
Kratz CP, Achatz MI, Brugières L, Frebourg T, Garber JE, Greer MC, Hansford JR, Janeway KA, Kohlmann WK, McGee R, Mullighan CG, Onel K, Pajtler KW, Pfister SM, Savage SA, Schiffman JD, Schneider KA, Strong LC, Evans DGR, Wasserman JD, Villani A, Malkin D. Kratz CP, et al. Among authors: brugieres l. Clin Cancer Res. 2017 Jun 1;23(11):e38-e45. doi: 10.1158/1078-0432.CCR-17-0408. Clin Cancer Res. 2017. PMID: 28572266 Review.
Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor.
Tauziède-Espariat A, Masliah-Planchon J, Brugières L, Puget S, Dufour C, Schneider P, Laquerrière A, Frebourg T, Bodet D, Lechapt-Zalcman E, Pierron G, Delattre O, Varlet P, Bourdeaut F. Tauziède-Espariat A, et al. Among authors: brugieres l. Eur J Hum Genet. 2017 Oct;25(10):1170-1172. doi: 10.1038/ejhg.2017.115. Epub 2017 Jul 19. Eur J Hum Genet. 2017. PMID: 28722703 Free PMC article.
297 results