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Publications récentes des membres du Centre PREDIR


Maladie de von Hippel-Lindau

Bausch B, Wellner U, Peyre M, Boedeker CC, Hes FJ, Anglani M, de Campos JM, Kanno H, Maher ER, Krauss T, Sansó G, Barontini M, Letizia C, Hader C, Schiavi F, Zanoletti E, Suárez C, Offergeld C, Malinoc A, Zschiedrich S, Glasker S, Bobin S, Sterkers O, Ba Huy PT, Giraud S, Links T, Eng C, Opocher G, Richard S, Neumann HP; International Endolymphatic Sac Tumor (ELST) Consortium. Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. Head Neck. 2015 Apr 13. abstract

Couvé S, Ladroue C, Laine E, Mahtouk K, Guégan J, Gad S, Le Jeune H, Le Gentil M, Nuel G, Kim WY, Lecomte B, Pagès JC, Collin C, Lasne F, Benusiglio PR, Bressac-de Paillerets B, Feunteun J, Lazar V, Gimenez-Roqueplo AP, Mazure NM, Dessen P, Tchertanov L, Mole DR, Kaelin W, Ratcliffe P, Richard S, Gardie B. Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. Cancer Res. 2014 Nov 15;74(22):6554-64. Epub 2014 Nov 4.
abstract

De Mestier L, Gaujoux S, Cros J, Hentic O, Vullierme MP, Couvelard A, Cadiot G, Sauvanet A, Ruszniewski P, Richard S, Hammel P. Long-term Prognosis of Resected Pancreatic Neuroendocrine Tumors in von Hippel-Lindau disease Is favorable and not influenced by small tumors left in place. Ann Surg. 2014 Sep 1. [Epub ahead of print] abstract

Nevoux J, Nowak C, Vellin JF, Lepajolec C, Sterkers O, Richard S, Bobin S. Management of endolymphatic sac tumors: sporadic cases and von Hippel-Lindau disease. Otol Neurotol. 2014 Jun;35(5):899-904. abstract

Richard S, Gardie B, Couvé S, Gad S. Von Hippel-Lindau: how a rare disease illuminates cancer biology. Semin Cancer Biol. 2013 Feb;23(1):26-37. abstract

Maher ER, Neumann HP, Richard S. von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011 Jun;19(6):617-23. abstract

Joly D, Méjean A, Corréas Jm, Timsit Mo, Verkarre V, Deveaux S, Landais P, Grünfeld Jp, Richard S. Progress in nephron sparing therapy for renal cell carcinoma and von Hippel-Lindau disease. J Urol. 2011 Jun;185(6):2056-60. abstract



Syndrome de Birt-Hogg-Dubé

Benusiglio PR. The Birt-Hogg-Dugé cancer predisposition syndrome: Current challenges. Intractable Rare Dis Res. 2015 Aug;4(3):162-3. abstract

Benusiglio PR, Giraud S, Deveaux S, Méjean A, Correas JM, Joly D, Timsit MO, Ferlicot S, Verkarre V, Abadie C, Chauveau D, Leroux D, Avril MF, Cordier JF, Richard S; French National Cancer Institute Inherited Predisposition to Kidney Cancer Network. Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study. Orphanet J Rare Dis. 2014 Oct 29;9:163. abstract

Benusiglio PR, Gad S, Massard C, Carton E, Longchampt E, Faudot T, Lamoril J, Ferlicot S. Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome. F1000Res. 2014 Jul 11;3:159.
abstract


Léiomyomatose héréditaire

Menko FH, Maher ER, Schmidt LS, Middelton LA, Aittomäki K, Tomlinson I, Richard S, Linehan WM. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer. 2014 Dec;13(4):637-44.1. abstract

Gardie B, Remenieras A, Kattygnarath D, Bombled J, Lefèvre S, Perrier-Trudova V, Rustin P, Barrois M, Slama A, Avril Mf, Bessis D, Caron O, Caux F, Collignon P, Coupier I, Cremin C, Dollfus H, Dugast C, Escudier B, Faivre L, Field M, Gilbert-Dussardier B, Janin N, Leport Y, Leroux D, Lipsker D, Malthieu F, Mcgilliwray B, Maugard C, Méjean A, Mortemousque I, Plessis G, Poppe B, Pruvost-Balland C, Rooker S, Roume J, Soufir N, Steinraths M, Tan Mh, Théodore C, Thomas L, Vabres P, Van Glabeke E, Meric Jb, Verkarre V, Lenoir G, Joulin V, Deveaux S, Cusin V, Feunteun J, Teh Bt, Bressac-De Paillerets B, Richard S. Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. J Med Genet. 2011 Apr;48(4):226-34. Erratum in: J Med Genet. 2011 Aug;48(8):576. abstract


Cancer rénal à cellules claires familial

Benusiglio PR, Couvé S, Gilbert-Dussardier B, Deveaux S, Le Jeune H, Da Costa M, Fromont G, Memeteau F, Yacoub M, Coupier I, Leroux D, Méjean A, Escudier B, Giraud S, Gimenez-Roqueplo AP, Blondel C, Frouin E, Teh BT, Ferlicot S, Bressac-de Paillerets B, Richard S, Gad S. A germline mutation in PBRM1 predisposes to renal cell carcinoma. J Med Genet. 2015 Jun;52(6):426-30. abstract