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A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.
Liu J, Ottaviani D, Sefta M, Desbrousses C, Chapeaublanc E, Aschero R, Sirab N, Lubieniecki F, Lamas G, Tonon L, Dehainault C, Hua C, Fréneaux P, Reichman S, Karboul N, Biton A, Mirabal-Ortega L, Larcher M, Brulard C, Arrufat S, Nicolas A, Elarouci N, Popova T, Némati F, Decaudin D, Gentien D, Baulande S, Mariani O, Dufour F, Guibert S, Vallot C, Rouic LL, Matet A, Desjardins L, Pascual-Pasto G, Suñol M, Catala-Mora J, Llano GC, Couturier J, Barillot E, Schaiquevich P, Gauthier-Villars M, Stoppa-Lyonnet D, Golmard L, Houdayer C, Brisse H, Bernard-Pierrot I, Letouzé E, Viari A, Saule S, Sastre-Garau X, Doz F, Carcaboso AM, Cassoux N, Pouponnot C, Goureau O, Chantada G, de Reyniès A, Aerts I, Radvanyi F. Liu J, et al. Among authors: golmard l. Nat Commun. 2021 Sep 22;12(1):5578. doi: 10.1038/s41467-021-25792-0. Nat Commun. 2021. PMID: 34552068 Free PMC article.
Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.
Tarabeux J, Zeitouni B, Moncoutier V, Tenreiro H, Abidallah K, Lair S, Legoix-Né P, Leroy Q, Rouleau E, Golmard L, Barillot E, Stern MH, Rio-Frio T, Stoppa-Lyonnet D, Houdayer C. Tarabeux J, et al. Among authors: golmard l. Eur J Hum Genet. 2014 Apr;22(4):535-41. doi: 10.1038/ejhg.2013.181. Epub 2013 Aug 14. Eur J Hum Genet. 2014. PMID: 23942203 Free PMC article.
Germline mutation in the RAD51B gene confers predisposition to breast cancer.
Golmard L, Caux-Moncoutier V, Davy G, Al Ageeli E, Poirot B, Tirapo C, Michaux D, Barbaroux C, d'Enghien CD, Nicolas A, Castéra L, Sastre-Garau X, Stern MH, Houdayer C, Stoppa-Lyonnet D. Golmard L, et al. BMC Cancer. 2013 Oct 19;13:484. doi: 10.1186/1471-2407-13-484. BMC Cancer. 2013. PMID: 24139550 Free PMC article.
Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations.
Golmard L, Delnatte C, Laugé A, Moncoutier V, Lefol C, Abidallah K, Tenreiro H, Copigny F, Giraudeau M, Guy C, Barbaroux C, Amorim G, Briaux A, Guibert V, Tarabeux J, Caputo S, Collet A, Gesta P, Ingster O, Stern MH, Rouleau E, de Pauw A, Gauthier-Villars M, Buecher B, Bézieau S, Stoppa-Lyonnet D, Houdayer C. Golmard L, et al. Oncogene. 2016 Mar 10;35(10):1324-7. doi: 10.1038/onc.2015.181. Epub 2015 Jun 1. Oncogene. 2016. PMID: 26028024
Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas.
Manié E, Popova T, Battistella A, Tarabeux J, Caux-Moncoutier V, Golmard L, Smith NK, Mueller CR, Mariani O, Sigal-Zafrani B, Dubois T, Vincent-Salomon A, Houdayer C, Stoppa-Lyonnet D, Stern MH. Manié E, et al. Among authors: golmard l. Int J Cancer. 2016 Feb 15;138(4):891-900. doi: 10.1002/ijc.29829. Epub 2015 Sep 24. Int J Cancer. 2016. PMID: 26317927 Free article.
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Bandera EV, Barile M, Barkardottir RB, Barrowdale D, Beckmann MW, Benitez J, Berchuck A, Bisogna M, Bjorge L, Blomqvist C, Blot W, Bogdanova N, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Børresen-Dale AL, Brauch H, Brennan P, Brenner H, Bruinsma F, Brunet J, Buhari SA, Burwinkel B, Butzow R, Buys SS, Cai Q, Caldes T, Campbell I, Canniotto R, Chang-Claude J, Chiquette J, Choi JY, Claes KB; GEMO Study Collaborators; Cook LS, Cox A, Cramer DW, Cross SS, Cybulski C, Czene K, Daly MB, Damiola F, Dansonka-Mieszkowska A, Darabi H, Dennis J, Devilee P, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dumont M, Ehrencrona H, Ejlertsen B, Ellis S; EMBRACE; Engel C, Lee E, Evans DG, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foretova L, Fostira F, Foulkes WD, Fridley BL, Friedman E, Frost D, Gambino G, Ganz PA, Garber J, García-Closas M, Gentry-Maharaj A, Ghoussaini M, Giles GG, Glasspool R, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goode EL, Goodman MT, Gree… See abstract for full author list ➔ Lawrenson K, et al. Nat Commun. 2016 Sep 7;7:12675. doi: 10.1038/ncomms12675. Nat Commun. 2016. PMID: 27601076 Free PMC article. Clinical Trial.
Mosaicism and prenatal diagnosis options: insights from retinoblastoma.
Dehainault C, Golmard L, Millot GA, Charpin A, Laugé A, Tarabeux J, Aerts I, Cassoux N, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C. Dehainault C, et al. Among authors: golmard l. Eur J Hum Genet. 2017 Feb;25(3):381-383. doi: 10.1038/ejhg.2016.174. Epub 2016 Dec 21. Eur J Hum Genet. 2017. PMID: 28000698 Free PMC article.
Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer.
Labidi-Galy SI, Olivier T, Rodrigues M, Ferraioli D, Derbel O, Bodmer A, Petignat P, Rak B, Chopin N, Tredan O, Heudel PE, Stuckelberger S, Meeus P, Meraldi P, Viassolo V, Ayme A, Chappuis PO, Stern MH, Houdayer C, Stoppa-Lyonnet D, Buisson A, Golmard L, Bonadona V, Ray-Coquard I. Labidi-Galy SI, et al. Among authors: golmard l. Clin Cancer Res. 2018 Jan 15;24(2):326-333. doi: 10.1158/1078-0432.CCR-17-2136. Epub 2017 Oct 30. Clin Cancer Res. 2018. PMID: 29084914
Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers.
Golmard L, Castéra L, Krieger S, Moncoutier V, Abidallah K, Tenreiro H, Laugé A, Tarabeux J, Millot GA, Nicolas A, Laé M, Abadie C, Berthet P, Polycarpe F, Frébourg T, Elan C, de Pauw A, Gauthier-Villars M, Buecher B, Stern MH, Stoppa-Lyonnet D, Vaur D, Houdayer C. Golmard L, et al. Eur J Hum Genet. 2017 Dec;25(12):1345-1353. doi: 10.1038/s41431-017-0021-2. Epub 2017 Nov 8. Eur J Hum Genet. 2017. PMID: 29255180 Free PMC article.
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