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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. Among authors: cabaret o. 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.
Germline BAP1 mutations predispose to renal cell carcinomas.
Popova T, Hebert L, Jacquemin V, Gad S, Caux-Moncoutier V, Dubois-d'Enghien C, Richaudeau B, Renaudin X, Sellers J, Nicolas A, Sastre-Garau X, Desjardins L, Gyapay G, Raynal V, Sinilnikova OM, Andrieu N, Manié E, de Pauw A, Gesta P, Bonadona V, Maugard CM, Penet C, Avril MF, Barillot E, Cabaret O, Delattre O, Richard S, Caron O, Benfodda M, Hu HH, Soufir N, Bressac-de Paillerets B, Stoppa-Lyonnet D, Stern MH. Popova T, et al. Among authors: cabaret o. Am J Hum Genet. 2013 Jun 6;92(6):974-80. doi: 10.1016/j.ajhg.2013.04.012. Epub 2013 May 16. Am J Hum Genet. 2013. PMID: 23684012 Free PMC article.
Germline BAP1 mutations predispose also to multiple basal cell carcinomas.
de la Fouchardière A, Cabaret O, Savin L, Combemale P, Schvartz H, Penet C, Bonadona V, Soufir N, Bressac-de Paillerets B. de la Fouchardière A, et al. Among authors: cabaret o. Clin Genet. 2015 Sep;88(3):273-7. doi: 10.1111/cge.12472. Epub 2014 Sep 8. Clin Genet. 2015. PMID: 25080371
The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma.
Andreotti V, Bisio A, Bressac-de Paillerets B, Harland M, Cabaret O, Newton-Bishop J, Pastorino L, Bruno W, Bertorelli R, De Sanctis V, Provenzani A, Menin C, Fronza G, Queirolo P, Spitale RC, Bianchi-Scarrà G, Inga A, Ghiorzo P. Andreotti V, et al. Among authors: cabaret o. Pigment Cell Melanoma Res. 2016 Mar;29(2):210-21. doi: 10.1111/pcmr.12444. Epub 2015 Dec 17. Pigment Cell Melanoma Res. 2016. PMID: 26581427
Concordance Between Tumor and Germline BRCA Status in High-Grade Ovarian Carcinoma Patients in the Phase III PAOLA-1/ENGOT-ov25 Trial.
Callens C, Vaur D, Soubeyran I, Rouleau E, Just PA, Guillerm E, Golmard L, Goardon N, Sevenet N, Cabaret O, Harter P, Gonzalez-Martin A, Fujiwara K, Cecere SC, Colombo N, Marth C, Vergote I, Maenpaa J, Pujade-Lauraine E, Ray-Coquard I. Callens C, et al. Among authors: cabaret o. J Natl Cancer Inst. 2021 Jul 1;113(7):917-923. doi: 10.1093/jnci/djaa193. J Natl Cancer Inst. 2021. PMID: 33372675 Free PMC article. Clinical Trial.
Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.
Jouenne F, Chauvot de Beauchene I, Bollaert E, Avril MF, Caron O, Ingster O, Lecesne A, Benusiglio P, Terrier P, Caumette V, Pissaloux D, de la Fouchardière A, Cabaret O, N'Diaye B, Velghe A, Bougeard G, Mann GJ, Koscielny S, Barrett JH, Harland M, Newton-Bishop J, Gruis N, Van Doorn R, Gauthier-Villars M, Pierron G, Stoppa-Lyonnet D, Coupier I, Guimbaud R, Delnatte C, Scoazec JY, Eggermont AM, Feunteun J, Tchertanov L, Demoulin JB, Frebourg T, Bressac-de Paillerets B. Jouenne F, et al. Among authors: cabaret o. J Med Genet. 2017 Sep;54(9):607-612. doi: 10.1136/jmedgenet-2016-104402. Epub 2017 Jun 7. J Med Genet. 2017. PMID: 28592523 Free article.
[Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma].
Avril MF, Bahadoran P, Cabaret O, Caron O, de la Fouchardière A, Demenais F, Desjardins L, Frébourg T, Hammel P, Leccia MT, Lesueur F, Mahé E, Martin L, Maubec E, Remenieras A, Richard S, Robert C, Soufir N, Stoppa-Lyonnet D, Thomas L, Vabres P, Bressac-de Paillerets B. Avril MF, et al. Among authors: cabaret o. Ann Dermatol Venereol. 2015 Jan;142(1):26-36. doi: 10.1016/j.annder.2014.09.606. Epub 2014 Nov 14. Ann Dermatol Venereol. 2015. PMID: 25600792 French.
Primary leptomeningeal melanoma is part of the BAP1-related cancer syndrome.
de la Fouchardière A, Cabaret O, Pètre J, Aydin S, Leroy A, de Potter P, Pissaloux D, Haddad V, Bressac-de Paillerets B, Janin N. de la Fouchardière A, et al. Among authors: cabaret o. Acta Neuropathol. 2015 Jun;129(6):921-3. doi: 10.1007/s00401-015-1423-2. Epub 2015 Apr 22. Acta Neuropathol. 2015. PMID: 25900292 No abstract available.
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
Fachal L, Aschard H, Beesley J, Barnes DR, Allen J, Kar S, Pooley KA, Dennis J, Michailidou K, Turman C, Soucy P, Lemaçon A, Lush M, Tyrer JP, Ghoussaini M, Moradi Marjaneh M, Jiang X, Agata S, Aittomäki K, Alonso MR, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Aronson KJ, Arun BK, Auber B, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Beeghly-Fadiel A, Benitez J, Bermisheva M, Białkowska K, Blanco AM, Blomqvist C, Blot W, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Bosse K, Brauch H, Brenner H, Briceno I, Brock IW, Brooks-Wilson A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldés T, Caligo MA, Camp NJ, Campbell I, Canzian F, Carroll JS, Carter BD, Castelao JE, Chiquette J, Christiansen H, Chung WK, Claes KBM, Clarke CL; GEMO Study Collaborators; EMBRACE Collaborators; Collée JM, Cornelissen S, Couch FJ, Cox A, Cross SS, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Domchek SM, Dörk T, Dos-Santos-Silva I, Droit A, Dubois S, Dumont M, Duran M, Durcan L, Dwek M, Eccles DM, Engel C, Eriksson M, Evans DG, Fasching PA, Fletcher O, Floris G, Flyger H, Foretova L, Foulkes WD, Friedman E, Fritschi L, Frost D… See abstract for full author list ➔ Fachal L, et al. Nat Genet. 2020 Jan;52(1):56-73. doi: 10.1038/s41588-019-0537-1. Epub 2020 Jan 7. Nat Genet. 2020. PMID: 31911677 Free PMC article.
42 results