Frebourg T - Search Results

1

Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC.

Di Fiore F, Charbonnier F, Martin C, Frerot S, Olschwang S, Wang Q, Boisson C, Buisine MP, Nilbert M, Lindblom A, Frebourg T. Di Fiore F, et al. Among authors: frebourg t. J Med Genet. 2004 Jan;41(1):18-20. doi: 10.1136/jmg.2003.012062. J Med Genet. 2004. PMID: 14729822 Free PMC article. Review. No abstract available.

2

BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.

Domingo E, Laiho P, Ollikainen M, Pinto M, Wang L, French AJ, Westra J, Frebourg T, Espín E, Armengol M, Hamelin R, Yamamoto H, Hofstra RM, Seruca R, Lindblom A, Peltomäki P, Thibodeau SN, Aaltonen LA, Schwartz S Jr. Domingo E, et al. Among authors: frebourg t. J Med Genet. 2004 Sep;41(9):664-8. doi: 10.1136/jmg.2004.020651. J Med Genet. 2004. PMID: 15342696 Free PMC article.

3

Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer.

Baert-Desurmont S, Buisine MP, Bessenay E, Frerot S, Lovecchio T, Martin C, Olschwang S, Wang Q, Frebourg T. Baert-Desurmont S, et al. Among authors: frebourg t. Eur J Hum Genet. 2007 Mar;15(3):383-6. doi: 10.1038/sj.ejhg.5201765. Epub 2007 Jan 17. Eur J Hum Genet. 2007. PMID: 17228328

4

The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences.

Charbonnier F, Baert-Desurmont S, Liang P, Di Fiore F, Martin C, Frerot S, Olschwang S, Wang Q, Buisine MP, Gilbert B, Nilbert M, Lindblom A, Frebourg T. Charbonnier F, et al. Among authors: frebourg t. Hum Mutat. 2005 Sep;26(3):255-61. doi: 10.1002/humu.20216. Hum Mutat. 2005. PMID: 16086322

5

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.

Wang Q, Leclerc J, Bougeard G, Olschwang S, Vasseur S, Cassinari K, Boidin D, Lefol C, Naïbo P, Frébourg T, Buisine MP, Baert-Desurmont S; French Consortium of Oncogenetic laboratories for colorectal cancers, Unicancer Cancer Genetic Group (GGC). Wang Q, et al. Among authors: frebourg t. J Med Genet. 2020 Jul;57(7):487-499. doi: 10.1136/jmedgenet-2019-106256. Epub 2020 Jan 28. J Med Genet. 2020. PMID: 31992580

6

MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer.

Charbonnier F, Olschwang S, Wang Q, Boisson C, Martin C, Buisine MP, Puisieux A, Frebourg T. Charbonnier F, et al. Among authors: frebourg t. Cancer Res. 2002 Feb 1;62(3):848-53. Cancer Res. 2002. PMID: 11830542

7

Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers.

Houlle S, Charbonnier F, Houivet E, Tinat J, Buisine MP, Caron O, Benichou J, Baert-Desurmont S, Frebourg T. Houlle S, et al. Among authors: frebourg t. Eur J Hum Genet. 2011 Aug;19(8):887-92. doi: 10.1038/ejhg.2011.44. Epub 2011 Mar 16. Eur J Hum Genet. 2011. PMID: 21407259 Free PMC article.

8

Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments.

Charbonnier F, Raux G, Wang Q, Drouot N, Cordier F, Limacher JM, Saurin JC, Puisieux A, Olschwang S, Frebourg T. Charbonnier F, et al. Among authors: frebourg t. Cancer Res. 2000 Jun 1;60(11):2760-3. Cancer Res. 2000. PMID: 10850409

9

Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.

Bougeard G, Limacher JM, Martin C, Charbonnier F, Killian A, Delattre O, Longy M, Jonveaux P, Fricker JP, Stoppa-Lyonnet D, Flaman JM, Frébourg T. Bougeard G, et al. Among authors: frebourg t. J Med Genet. 2001 Apr;38(4):253-7. doi: 10.1136/jmg.38.4.253. J Med Genet. 2001. PMID: 11370630 Free PMC article. No abstract available.

10

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

Lavoine N, Colas C, Muleris M, Bodo S, Duval A, Entz-Werle N, Coulet F, Cabaret O, Andreiuolo F, Charpy C, Sebille G, Wang Q, Lejeune S, Buisine MP, Leroux D, Couillault G, Leverger G, Fricker JP, Guimbaud R, Mathieu-Dramard M, Jedraszak G, Cohen-Hagenauer O, Guerrini-Rousseau L, Bourdeaut F, Grill J, Caron O, Baert-Dusermont S, Tinat J, Bougeard G, Frébourg T, Brugières L. Lavoine N, et al. Among authors: frebourg t. J Med Genet. 2015 Nov;52(11):770-8. doi: 10.1136/jmedgenet-2015-103299. Epub 2015 Aug 28. J Med Genet. 2015. PMID: 26318770 Review.

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