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Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.
Garritano S, Gemignani F, Palmero EI, Olivier M, Martel-Planche G, Le Calvez-Kelm F, Brugiéres L, Vargas FR, Brentani RR, Ashton-Prolla P, Landi S, Tavtigian SV, Hainaut P, Achatz MI. Garritano S, et al. Among authors: tavtigian sv. Hum Mutat. 2010 Feb;31(2):143-50. doi: 10.1002/humu.21151. Hum Mutat. 2010. PMID: 19877175
Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.
Nguyen-Dumont T, Calvez-Kelm FL, Forey N, McKay-Chopin S, Garritano S, Gioia-Patricola L, De Silva D, Weigel R, Sangrajrang S, Lesueur F, Tavtigian SV; Breast Cancer Family Registries (BCFR); Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab). Nguyen-Dumont T, et al. Among authors: tavtigian sv. Hum Mutat. 2009 Jun;30(6):884-90. doi: 10.1002/humu.20949. Hum Mutat. 2009. PMID: 19347964 Free PMC article.
Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.
Palmero EI, Alemar B, Schüler-Faccini L, Hainaut P, Moreira-Filho CA, Ewald IP, Santos PK, Ribeiro PL, Oliveira CB, Calvez-Kelm FL, Tavtigian S, Cossio SL, Giugliani R, Caleffi M, Ashton-Prolla P. Palmero EI, et al. Genet Mol Biol. 2016 May 24;39(2):210-22. doi: 10.1590/1678-4685-GMB-2014-0363. Genet Mol Biol. 2016. PMID: 27223485 Free PMC article.
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.
Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallée MP, Voegele C, Webb PM, Whiteman DC; Australian Cancer Study; Breast Cancer Family Registries (BCFR); Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G. Tavtigian SV, et al. Am J Hum Genet. 2009 Oct;85(4):427-46. doi: 10.1016/j.ajhg.2009.08.018. Epub 2009 Sep 24. Am J Hum Genet. 2009. PMID: 19781682 Free PMC article.
Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2.
Nguyen-Dumont T, Jordheim LP, Michelon J, Forey N, McKay-Chopin S; Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer; Sinilnikova O, Le Calvez-Kelm F, Southey MC, Tavtigian SV, Lesueur F. Nguyen-Dumont T, et al. Among authors: tavtigian sv. BMC Med Genomics. 2011 May 11;4:39. doi: 10.1186/1755-8794-4-39. BMC Med Genomics. 2011. PMID: 21569354 Free PMC article.
181 results