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Transmission of germline TP53 mutations from male carriers to female partners.
Patrier-Sallebert S, Bougeard G, Baert-Desurmont S, Lamy A, Flaman JM, Mansuy L, Bronner M, Lasset C, Brugières L, Golfier F, Frebourg T. Patrier-Sallebert S, et al. Among authors: frebourg t. J Med Genet. 2015 Mar;52(3):145-6. doi: 10.1136/jmedgenet-2014-102853. Epub 2015 Jan 22. J Med Genet. 2015. PMID: 25612911 No abstract available.
Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.
Bonnet C, Krieger S, Vezain M, Rousselin A, Tournier I, Martins A, Berthet P, Chevrier A, Dugast C, Layet V, Rossi A, Lidereau R, Frébourg T, Hardouin A, Tosi M. Bonnet C, et al. Among authors: frebourg t. J Med Genet. 2008 Jul;45(7):438-46. doi: 10.1136/jmg.2007.056895. Epub 2008 Apr 18. J Med Genet. 2008. PMID: 18424508
Gestational choriocarcinoma associated with a germline TP53 mutation.
Brehin AC, Patrier-Sallebert S, Bougeard G, Side-Pfennig G, Llamas Gutierrez F, Lamy A, Colasse E, Kandel-Aznar C, Delnatte C, Vuillemin E, Sadot-Lebouvier S, Odent S, Sabourin JC, Golfier F, Frebourg T. Brehin AC, et al. Among authors: frebourg t. Fam Cancer. 2018 Jan;17(1):113-117. doi: 10.1007/s10689-017-9996-7. Fam Cancer. 2018. PMID: 28477316
401 results