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37 results
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The Birt-Hogg-Dubé cancer predisposition syndrome: Current challenges.
Benusiglio PR. Benusiglio PR. Intractable Rare Dis Res. 2015 Aug;4(3):162-3. doi: 10.5582/irdr.2015.01017. Intractable Rare Dis Res. 2015. PMID: 26361570 Free PMC article.
CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.
Benusiglio PR, Malka D, Rouleau E, De Pauw A, Buecher B, Noguès C, Fourme E, Colas C, Coulet F, Warcoin M, Grandjouan S, Sezeur A, Laurent-Puig P, Molière D, Tlemsani C, Di Maria M, Byrde V, Delaloge S, Blayau M, Caron O. Benusiglio PR, et al. J Med Genet. 2013 Jul;50(7):486-9. doi: 10.1136/jmedgenet-2012-101472. Epub 2013 May 25. J Med Genet. 2013. PMID: 23709761
Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome.
Benusiglio PR, Gad S, Massard C, Carton E, Longchampt E, Faudot T, Lamoril J, Ferlicot S. Benusiglio PR, et al. F1000Res. 2014 Jul 11;3:159. doi: 10.12688/f1000research.4205.1. eCollection 2014. F1000Res. 2014. PMID: 25254107 Free PMC article.
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.
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. Couvé S, et al. Among authors: benusiglio pr. Cancer Res. 2014 Nov 15;74(22):6554-64. doi: 10.1158/0008-5472.CAN-14-1161. Epub 2014 Nov 4. Cancer Res. 2014. PMID: 25371412 Free PMC article.
Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.
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. Benusiglio PR, et al. Orphanet J Rare Dis. 2014 Oct 29;9:163. doi: 10.1186/s13023-014-0163-z. Orphanet J Rare Dis. 2014. PMID: 25519458 Free PMC article.
A germline mutation in PBRM1 predisposes to renal cell carcinoma.
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. Benusiglio PR, et al. J Med Genet. 2015 Jun;52(6):426-30. doi: 10.1136/jmedgenet-2014-102912. Epub 2015 Apr 24. J Med Genet. 2015. PMID: 25911086
Whole-Body MRI Screening in Children With Li-Fraumeni and Other Cancer Predisposition Syndromes.
Benusiglio PR, Brugières L, Caron O. Benusiglio PR, et al. AJR Am J Roentgenol. 2016 Mar;206(3):W52. doi: 10.2214/AJR.15.15532. AJR Am J Roentgenol. 2016. PMID: 26901030 No abstract available.
Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers.
Muller M, Ferlicot S, Guillaud-Bataille M, Le Teuff G, Genestie C, Deveaux S, Slama A, Poulalhon N, Escudier B, Albiges L, Soufir N, Avril MF, Gardie B, Saldana C, Allory Y, Gimenez-Roqueplo AP, Bressac-de Paillerets B, Richard S, Benusiglio PR. Muller M, et al. Among authors: benusiglio pr. Clin Genet. 2017 Dec;92(6):606-615. doi: 10.1111/cge.13014. Epub 2017 May 2. Clin Genet. 2017. PMID: 28300276
Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration.
Muller M, Guillaud-Bataille M, Salleron J, Genestie C, Deveaux S, Slama A, de Paillerets BB, Richard S, Benusiglio PR, Ferlicot S. Muller M, et al. Among authors: benusiglio pr. Mod Pathol. 2018 Jun;31(6):974-983. doi: 10.1038/s41379-018-0017-7. Epub 2018 Feb 6. Mod Pathol. 2018. PMID: 29410489
Low risk of invasive lobular carcinoma of the breast in carriers of BRCA1 (hereditary breast and ovarian cancer) and TP53 (Li-Fraumeni syndrome) germline mutations.
Ditchi Y, Broudin C, El Dakdouki Y, Muller M, Lavaud P, Caron O, Lejri D, Baynes C, Mathieu MC, Salleron J, Benusiglio PR. Ditchi Y, et al. Among authors: benusiglio pr. Breast J. 2019 Jan;25(1):16-19. doi: 10.1111/tbj.13154. Epub 2018 Nov 9. Breast J. 2019. PMID: 30414230 Free article.
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