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Items: 1 to 20 of 108

1.

MIR605 rs2043556 is associated with the occurrence of multiple primary tumors in TP53 p.(Arg337His) mutation carriers.

Bandeira IC, Vieira IA, Andreis TF, Brussa Reis L, Macedo GS, Vianna FSL, Santos-Silva P, Palmero EI, Galvão HCR, Ramos CRN, Santiago KM, Achatz MI, da Costa AABA, Ashton-Prolla P.

Cancer Genet. 2019 Nov 20;240:54-58. doi: 10.1016/j.cancergen.2019.11.005. [Epub ahead of print]

PMID:
31778928
2.

The Role of Co-Deleted Genes in Neurofibromatosis Type 1 Microdeletions: An Evolutive Approach.

Brussa Reis L, Turchetto-Zolet AC, Fonini M, Ashton-Prolla P, Rosset C.

Genes (Basel). 2019 Oct 24;10(11). pii: E839. doi: 10.3390/genes10110839.

3.

Analysis of Predictive Biomarkers in Patients With Lung Adenocarcinoma From Southern Brazil Reveals a Distinct Profile From Other Regions of the Country.

Andreis TF, Correa BS, Vianna FS, De-Paris F, Siebert M, Leistner-Segal S, Hahn EC, Ulbrich JM, Rivero LFR, De Oliveira FH, Lorandi V, Ashton-Prolla P, Macedo GS.

J Glob Oncol. 2019 Sep;5:1-9. doi: 10.1200/JGO.19.00174.

4.

TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling.

Bittar CM, Vieira IA, Sabato CS, Andreis TF, Alemar B, Artigalás O, Galvão HCR, Macedo GS, Palmero EI, Ashton-Prolla P.

Fam Cancer. 2019 Oct;18(4):451-456. doi: 10.1007/s10689-019-00140-w.

PMID:
31321604
5.

A comprehensive analysis of core polyadenylation sequences and regulation by microRNAs in a set of cancer predisposition genes.

Vieira IA, Recamonde-Mendoza M, da Silva VL, Leão DP, Scheid MR, de Souza SJ, Ashton-Prolla P.

Gene. 2019 Sep 5;712:143943. doi: 10.1016/j.gene.2019.143943. Epub 2019 Jun 21.

PMID:
31229581
6.

Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.

Vieira TA, Trapp FB, Souza CFM, Faccini LS, Jardim LB, Schwartz IVD, Riegel M, Vargas CR, Burin MG, Leistner-Segal S, Ashton-Prolla P, Giugliani R.

Genet Mol Biol. 2019;42(1 suppl 1):155-164. doi: 10.1590/1678-4685-GMB-2018-0214. Epub 2019 Jun 10.

7.

Performance of the Gail and Tyrer-Cuzick breast cancer risk assessment models in women screened in a primary care setting with the FHS-7 questionnaire.

Vianna FSL, Giacomazzi J, Oliveira Netto CB, Nunes LN, Caleffi M, Ashton-Prolla P, Camey SA.

Genet Mol Biol. 2019;42(1 suppl 1):232-237. doi: 10.1590/1678-4685-GMB-2018-0110. Epub 2019 Jun 3.

8.

Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era.

Macedo GS, Alemar B, Ashton-Prolla P.

Genet Mol Biol. 2019;42(1 suppl 1):215-231. doi: 10.1590/1678-4685-GMB-2018-0104. Epub 2019 Apr 29.

9.

Early-Onset Colorectal Cancer in Patients with Li Fraumeni Syndrome: Is It Really Enough to Justify Early Colon Cancer Screening?

Nirvana da Cruz Formiga M, Ashton-Prolla P, Alves de Souza Waddington Achatz MI.

Gastroenterology. 2019 Jul;157(1):264. doi: 10.1053/j.gastro.2018.10.063. Epub 2019 Apr 11. No abstract available.

PMID:
30981786
10.

TULP3: A potential biomarker in colorectal cancer?

Sartor ITS, Recamonde-Mendoza M, Ashton-Prolla P.

PLoS One. 2019 Jan 14;14(1):e0210762. doi: 10.1371/journal.pone.0210762. eCollection 2019.

11.

TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients.

Hahn EC, Bittar CM, Vianna FSL, Netto CBO, Biazús JV, Cericatto R, Cavalheiro JA, de Melo MP, Menke CH, Rabin E, Leistner-Segal S, Ashton-Prolla P.

PLoS One. 2018 Dec 31;13(12):e0209934. doi: 10.1371/journal.pone.0209934. eCollection 2018.

12.

Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast.

Felicio PS, Alemar B, Coelho AS, Berardinelli GN, Melendez ME, Lengert AVH, Miche Lli RD, Reis RM, Fernandes GC, Ewald IP, Bittar CM, Netto CBO, Artigalas O, Peixoto A, Pinheiro M, Teixeira MR, Vargas FR, Dos Santos ACE, Moreira MAM, Ashton-Prolla P, Palmero EI.

Cancer Genet. 2018 Dec;228-229:93-97. doi: 10.1016/j.cancergen.2018.09.001. Epub 2018 Oct 6.

PMID:
30553478
13.

From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America.

Vaccaro CA, López-Kostner F, Adriana DV, Palmero EI, Rossi BM, Antelo M, Solano A, Carraro DM, Forones NM, Bohorquez M, Lino-Silva LS, Buleje J, Spirandelli F, Abe-Sandes K, Nascimento I, Sullcahuaman Y, Sarroca C, Gonzalez ML, Herrando AI, Alvarez K, Neffa F, Galvão HC, Esperon P, Golubicki M, Cisterna D, Cardoso FC, Torrezan GT, Junior SA, Pimenta CAM, da Cruz Formiga MN, Santos E, Sá CU, Oliveira EP, Fujita R, Spirandelli E, Jimenez G, Guindalini RSC, de Azevedo RGMV, Bueno LSM, Dos Santos Nogueira ST, Loarte MT, Padron J, Del Carmen Castro-Mujica M, Del Monte JS, Caballero C, Peña CMM, Pinto J, Barletta-Carrillo C, Melva GA, Piñero T, Beltran PM, Ashton-Prolla P, Rodriguez Y, Quispe R, Rossi NT, Martin C, Chialina S, Kalfayan PG, Bazo-Alvarez JC, Cañete AR, Dominguez-Barrera C, Nuñez L, Da Silva SD, Balavarca Y, Wernhoff P, Plazzer JP, Møller P, Hovig E, Dominguez-Valentin M; GETH.

Int J Cancer. 2019 Jul 15;145(2):318-326. doi: 10.1002/ijc.31920. Epub 2018 Dec 5. Review.

14.

The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

Palmero EI, Carraro DM, Alemar B, Moreira MAM, Ribeiro-Dos-Santos Â, Abe-Sandes K, Galvão HCR, Reis RM, de Pádua Souza C, Campacci N, Achatz MI, Brianese RC, da Cruz Formiga MN, Makdissi FB, Vargas FR, Evangelista Dos Santos AC, Seuanez HN, Lobo de Souza KR, Netto CBO, Santos-Silva P, da Silva GS, Burbano RMR, Santos S, Assumpção PP, Bernardes IMM, Machado-Lopes TMB, Bomfim TF, Toralles MBP, Nascimento I, Garicochea B, Simon SD, Noronha S, de Lima FT, Chami AM, Bittar CM, Bines J, Artigalas O, Esteves-Diz MDP, Lajus TBP, Gifoni ACLVC, Guindalini RSC, Cintra TS, Schwartz IVD, Bernardi P, Miguel D, Nogueira STDS, Herzog J, Weitzel JN, Ashton-Prolla P.

Sci Rep. 2018 Jun 15;8(1):9188. doi: 10.1038/s41598-018-27315-2.

15.

Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

Alemar B, Gregório C, Herzog J, Matzenbacher Bittar C, Brinckmann Oliveira Netto C, Artigalas O, Schwartz IVD, Coffa J, Alves Camey S, Weitzel J, Ashton-Prolla P.

PLoS One. 2018 May 11;13(5):e0197529. doi: 10.1371/journal.pone.0197529. eCollection 2018.

16.

Clinical and molecular characterization of neurofibromatosis in southern Brazil.

Rosset C, Vairo F, Cristina Bandeira I, Fonini M, Netto CBO, Ashton-Prolla P.

Expert Rev Mol Diagn. 2018 Jun;18(6):577-586. doi: 10.1080/14737159.2018.1468256. Epub 2018 Apr 27.

PMID:
29685074
17.

The Challenge of Evaluating Adnexal Masses in Patients With Breast Cancer.

Reinert T, Nogueira-Rodrigues A, Kestelman FP, Ashton-Prolla P, Graudenz MS, Bines J.

Clin Breast Cancer. 2018 Aug;18(4):e587-e594. doi: 10.1016/j.clbc.2018.03.006. Epub 2018 Mar 12. Review.

PMID:
29680194
18.

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.

Schneider NB, Pastor T, Paula AE, Achatz MI, Santos ÂRD, Vianna FSL, Rosset C, Pinheiro M, Ashton-Prolla P, Moreira MÂM, Palmero EI; Brazilian Lynch Syndrome Study Group.

Cancer Med. 2018 May;7(5):2078-2088. doi: 10.1002/cam4.1316. Epub 2018 Mar 25.

19.

BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

Alemar B, Gregório C, Herzog J, Matzenbacher Bittar C, Brinckmann Oliveira Netto C, Artigalas O, Schwartz IVD, Coffa J, Alves Camey S, Weitzel J, Ashton-Prolla P.

PLoS One. 2017 Nov 21;12(11):e0187630. doi: 10.1371/journal.pone.0187630. eCollection 2017. Erratum in: PLoS One. 2018 May 11;13(5):e0197529.

20.

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

Rosset C, Vairo F, Bandeira IC, Correia RL, de Goes FV, da Silva RTB, Bueno LSM, de Miranda Gomes MCS, Galvão HCR, Neri JICF, Achatz MI, Netto CBO, Ashton-Prolla P.

PLoS One. 2017 Oct 2;12(10):e0185713. doi: 10.1371/journal.pone.0185713. eCollection 2017.

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