Ashton-Prolla P - Search Results

1

Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

da Costa E Silva Carvalho S, Cury NM, Brotto DB, de Araujo LF, Rosa RCA, Texeira LA, Plaça JR, Marques AA, Peronni KC, Ruy PC, Molfetta GA, Moriguti JC, Carraro DM, Palmero EI, Ashton-Prolla P, de Faria Ferraz VE, Silva WA Jr. da Costa E Silva Carvalho S, et al. BMC Med Genomics. 2020 Feb 10;13(1):21. doi: 10.1186/s12920-019-0652-y. BMC Med Genomics. 2020. PMID: 32039725 Free PMC article.

2

The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.

Achatz MI, Olivier M, Le Calvez F, Martel-Planche G, Lopes A, Rossi BM, Ashton-Prolla P, Giugliani R, Palmero EI, Vargas FR, Da Rocha JC, Vettore AL, Hainaut P. Achatz MI, et al. Cancer Lett. 2007 Jan 8;245(1-2):96-102. doi: 10.1016/j.canlet.2005.12.039. Epub 2006 Feb 21. Cancer Lett. 2007. PMID: 16494995

3

Clinical characterization and risk profile of individuals seeking genetic counseling for hereditary breast cancer in Brazil.

Palmero EI, Ashton-Prolla P, da Rocha JC, Vargas FR, Kalakun L, Blom MB, Azevedo SJ, Caleffi M, Giugliani R, Schüler-Faccini L. Palmero EI, et al. J Genet Couns. 2007 Jun;16(3):363-71. doi: 10.1007/s10897-006-9073-0. Epub 2007 Feb 23. J Genet Couns. 2007. PMID: 17318454

4

Cancer genetic counseling in public health care hospitals: the experience of three Brazilian services.

Palmero EI, Kalakun L, Schüler-Faccini L, Giugliani R, Regla Vargas F, Rocha JC, Ashton-Prolla P. Palmero EI, et al. Community Genet. 2007;10(2):110-9. doi: 10.1159/000099089. Community Genet. 2007. PMID: 17380061

5

Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil.

Palmero EI, Schüler-Faccini L, Caleffi M, Achatz MI, Olivier M, Martel-Planche G, Marcel V, Aguiar E, Giacomazzi J, Ewald IP, Giugliani R, Hainaut P, Ashton-Prolla P. Palmero EI, et al. Cancer Lett. 2008 Mar 8;261(1):21-5. doi: 10.1016/j.canlet.2007.10.044. Epub 2008 Jan 11. Cancer Lett. 2008. PMID: 18248785

6

Consistency of self-reported first-degree family history of cancer in a population-based study.

Roth FL, Camey SA, Caleffi M, Schuler-Faccini L, Palmero EI, Bochi C, Moreira SM, Kalakun L, Giugliani R, Ashton-Prolla P. Roth FL, et al. Fam Cancer. 2009;8(3):195-202. doi: 10.1007/s10689-008-9228-2. Epub 2009 Jan 20. Fam Cancer. 2009. PMID: 19153822

7

TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis.

Marcel V, Palmero EI, Falagan-Lotsch P, Martel-Planche G, Ashton-Prolla P, Olivier M, Brentani RR, Hainaut P, Achatz MI. Marcel V, et al. J Med Genet. 2009 Nov;46(11):766-72. doi: 10.1136/jmg.2009.066704. Epub 2009 Jun 18. J Med Genet. 2009. PMID: 19542078

8

Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care.

Ashton-Prolla P, Giacomazzi J, Schmidt AV, Roth FL, Palmero EI, Kalakun L, Aguiar ES, Moreira SM, Batassini E, Belo-Reyes V, Schuler-Faccini L, Giugliani R, Caleffi M, Camey SA. Ashton-Prolla P, et al. BMC Cancer. 2009 Aug 14;9:283. doi: 10.1186/1471-2407-9-283. BMC Cancer. 2009. PMID: 19682358 Free PMC article.

9

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. Hum Mutat. 2010 Feb;31(2):143-50. doi: 10.1002/humu.21151. Hum Mutat. 2010. PMID: 19877175

10

Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome.

Palmero EI, Achatz MI, Ashton-Prolla P, Olivier M, Hainaut P. Palmero EI, et al. Curr Opin Oncol. 2010 Jan;22(1):64-9. doi: 10.1097/CCO.0b013e328333bf00. Curr Opin Oncol. 2010. PMID: 19952748 Review.

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