Pesquisa | Secretaria de Estado da Saúde

1.

Geographic variation of mutagenic exposures in kidney cancer genomes.

Senkin, Sergey; Moody, Sarah; Díaz-Gay, Marcos; Abedi-Ardekani, Behnoush; Cattiaux, Thomas; Ferreiro-Iglesias, Aida; Wang, Jingwei; Fitzgerald, Stephen; Kazachkova, Mariya; Vangara, Raviteja; Le, Anh Phuong; Bergstrom, Erik N; Khandekar, Azhar; Otlu, Burçak; Cheema, Saamin; Latimer, Calli; Thomas, Emily; Atkins, Joshua Ronald; Smith-Byrne, Karl; Cortez Cardoso Penha, Ricardo; Carreira, Christine; Chopard, Priscilia; Gaborieau, Valérie; Keski-Rahkonen, Pekka; Jones, David; Teague, Jon W; Ferlicot, Sophie; Asgari, Mojgan; Sangkhathat, Surasak; Attawettayanon, Worapat; Swiatkowska, Beata; Jarmalaite, Sonata; Sabaliauskaite, Rasa; Shibata, Tatsuhiro; Fukagawa, Akihiko; Mates, Dana; Jinga, Viorel; Rascu, Stefan; Mijuskovic, Mirjana; Savic, Slavisa; Milosavljevic, Sasa; Bartlett, John M S; Albert, Monique; Phouthavongsy, Larry; Ashton-Prolla, Patricia; Botton, Mariana R; Silva Neto, Brasil; Bezerra, Stephania Martins; Curado, Maria Paula; Zequi, Stênio de Cássio.

Nature ; 629(8013): 910-918, 2024 May.

Artigo Inglês | MEDLINE | ID: mdl-38693263

2.

Genome-wide CRISPR screens identify novel regulators of wild-type and mutant p53 stability.

Lü, YiQing; Cho, Tiffany; Mukherjee, Saptaparna; Suarez, Carmen Florencia; Gonzalez-Foutel, Nicolas S; Malik, Ahmad; Martinez, Sebastien; Dervovic, Dzana; Oh, Robin Hyunseo; Langille, Ellen; Al-Zahrani, Khalid N; Hoeg, Lisa; Lin, Zhen Yuan; Tsai, Ricky; Mbamalu, Geraldine; Rotter, Varda; Ashton-Prolla, Patricia; Moffat, Jason; Chemes, Lucia Beatriz; Gingras, Anne-Claude; Oren, Moshe; Durocher, Daniel; Schramek, Daniel.

Mol Syst Biol ; 2024 Apr 05.

Artigo Inglês | MEDLINE | ID: mdl-38580884

3.

Challenges to the effectiveness of next-generation sequencing in formalin-fixed paraffin-embedded tumor samples for non-small cell lung cancer.

da Silveira Corrêa, Bruno; De-Paris, Fernanda; Viola, Guilherme Danielski; Andreis, Tiago Finger; Rosset, Clévia; Vianna, Fernanda Sales Luiz; da Rosa Rivero, Luis Fernando; de Oliveira, Francine Hehn; Ashton-Prolla, Patricia; de Souza Macedo, Gabriel.

Ann Diagn Pathol ; 69: 152249, 2024 Apr.

Artigo Inglês | MEDLINE | ID: mdl-38150865

4.

An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database.

Garcia, Arthur Bandeira de Mello; Viola, Guilherme Danielski; Corrêa, Bruno da Silveira; Fischer, Taís da Silveira; Pinho, Maria Clara de Freitas; Rodrigues, Grazielle Motta; Ashton-Prolla, Patricia; Rosset, Clévia.

Genet Mol Biol ; 46(3 Suppl 1): e20230132, 2024.

Artigo Inglês | MEDLINE | ID: mdl-38373162

5.

Exploring the frequency of a TP53 polyadenylation signal variant in tumor DNA from patients diagnosed with lung adenocarcinomas, sarcomas and uterine leiomyomas.

Vieira, Igor Araujo; Viola, Guilherme Danielski; Pezzi, Eduarda Heidrich; Kowalski, Thayne Woycinck; Fernandes, Bruna Vieira; Andreis, Tiago Finger; Bom, Natascha; Sonnenstrahl, Giulianna; Rocha, Yasminne Marinho de Araújo; Corrêa, Bruno da Silveira; Donatti, Luiza Mezzomo; Sant'Anna, Gabriela Dos Santos; Corleta, Helena von Eye; Brum, Ilma Simoni; Rosset, Clévia; Vianna, Fernanda Sales Luiz; Macedo, Gabriel S; Palmero, Edenir Inez; Ashton-Prolla, Patricia.

Genet Mol Biol ; 46(3 Suppl 1): e20230133, 2024.

Artigo Inglês | MEDLINE | ID: mdl-38252059

6.

HLA haplotypes and differential regional mortality caused by COVID-19 in Brazil: an ecological study based on a large bone marrow donor bank dataset.

Boquett, Juliano André; Vianna, Fernanda S L; Fagundes, Nelson J R; Schroeder, Lucas; Barbian, Marcia; Zagonel-Oliveira, Marcelo; Andreis, Tiago F; Pôrto, Luis Cristóvão M S; Chies, José Artur B; Schuler-Faccini, Lavinia; Ashton-Prolla, Patricia; Rosset, Clévia.

An Acad Bras Cienc ; 95(3): e20220801, 2023.

Artigo Inglês | MEDLINE | ID: mdl-37851747

7.

Diverse mutational spectrum in the 13q14 chromosomal region in a Brazilian cohort of retinoblastoma.

Mendonça, Vanessa; Pereira Sena, Priscila; Evangelista Dos Santos, Anna Claudia; Rodrigues Bonvicino, Cibele; Ashton-Prolla, Patricia; Epelman, Sidnei; Ferman, Sima Esther; Lapunzina, Pablo; Nevado, Julián; Grigorovski, Nathalia; Mattosinho, Clarissa; Seuànez, Hector; Regla Vargas, Fernando.

Exp Eye Res ; 224: 109211, 2022 11.

Artigo Inglês | MEDLINE | ID: mdl-35985532

8.

Cancer risk-reducing surgery: Brazilian society of surgical oncology guideline part 1 (gynecology and breast).

Carneiro, Vandré Cabral Gomes; Gifoni, Ana Carolina Leite Vieira Costa; Mauro Rossi, Benedito; Andrade, Carlos Eduardo Mattos da Cunha; Lima, Fernanda Teresa de; Galvão, Henrique de Campos Reis; Casali da Rocha, Jose Claudio; Silva Barreto, Leonardo Silveira da; Ashton-Prolla, Patrícia; Guindalini, Rodrigo Santa Cruz; Farias, Terence Pires de; Andrade, Wesley Pereira; Fernandes, Paulo Henrique de Sousa; Ribeiro, Reitan; Lopes, Andre; Tsunoda, Audrey Tieko; Azevedo, Bruno Roberto Braga; Marins, Carlos Augusto Martinez; Oliveira Uchôa, Diego Nunes de Albuquerque; Dos Santos, Evandro Airton Sordi; Fernández Coimbra, Felipe José; Dias Filho, Francisco Alcides; Lopes, Francisco Carlos de Oliveira; Fernandes, Francisco Guilherme; Ritt, Guilherme Fonteles; Laporte, Gustavo Andreazza; Guimaraes, Gustavo Cardoso; Feitosa E Castro Neto, Heládio; Dos Santos, Jocela Cristina; de Carvalho Vilela, Jordana Botelho; Meinhardt Junior, Jorge Guardiola; Cunha, Juliano Rodrigues da; Medeiros Milhomem, Leonardo; da Silva, Luciana Mata; Maciel, Luiza de Freitas; Ramalho, Nathalia Moreira; Leite Nunes, Rafael; Guido de Araújo, Rodrigo; de Assunção Ehrhardt, Rogério; Delgado Bocanegra, Ronald Enrique; Silva Junior, Tyrone Cesar; Oliveira, Viviane Rezende de; Silva Surimã, Walyson; de Melo Melquiades, Miriam; Ribeiro, Heber Salvador de Castro; Oliveira, Alexandre Ferreira.

J Surg Oncol ; 126(1): 10-19, 2022 Jul.

Artigo Inglês | MEDLINE | ID: mdl-35689574

9.

Cancer risk-reducing surgery: Brazilian Society of Surgical Oncology Guideline Part 2 (Gastrointestinal and thyroid).

Carneiro, Vandré C G; Gifoni, Ana C L V C; Rossi, Benedito M; da Cunha Andrade, Carlos E M; de Lima, Fernanda T; de Campos Reis Galvão, Henrique; da Rocha, Jose C C; da Silva Barreto, Leonardo S; Ashton-Prolla, Patrícia; Guindalini, Rodrigo S C; de Farias, Terence P; Andrade, Wesley P; de Sousa Fernandes, Paulo H; Ribeiro, Reitan; Lopes, Andre; Tsunoda, Audrey T; Azevedo, Bruno R B; Marins, Carlos A M; de Albuquerque Oliveira Uchôa, Diego N; Dos Santos, Evandro A S; Coimbra, Felipe J F; Filho, Francisco A D; de Oliveira Lopes, Francisco C; Fernandes, Francisco G; Ritt, Guilherme F; Laporte, Gustavo A; Guimaraes, Gustavo C; Feitosa E Castro Neto, Heládio; Dos Santos, Jocela C; de Carvalho Vilela, Jordana B; Junior, Jorge G M; da Cunha, Juliano R; Milhomem, Leonardo M; da Silva, Luciana M; de Freitas Maciel, Luiza; Ramalho, Nathalia M; Nunes, Rafael L; de Araújo, Rodrigo G; de Assunção Ehrhardt, Rogério; Bocanegra, Ronald E D; Junior, Tyrone C S; de Oliveira, Viviane R; Surimã, Walyson S; de Melo Melquiades, Miriam; de Castro Ribeiro, Heber S; Oliveira, Alexandre F.

J Surg Oncol ; 126(1): 20-27, 2022 Jul.

Artigo Inglês | MEDLINE | ID: mdl-35689578

10.

Pooling of samples to optimize SARS-CoV-2 diagnosis by RT-qPCR: comparative analysis of two protocols.

Volpato, Fabiana; Lima-Morales, Daiana; Wink, Priscila Lamb; Willig, Julia; de-Paris, Fernanda; Ashton-Prolla, Patricia; Barth, Afonso Luís.

Eur J Clin Microbiol Infect Dis ; 40(4): 889-892, 2021 Apr.

Artigo Inglês | MEDLINE | ID: mdl-33063233

11.

The paradox of autophagy in Tuberous Sclerosis Complex.

Reis, Larissa Brussa; Filippi-Chiela, Eduardo C; Ashton-Prolla, Patricia; Visioli, Fernanda; Rosset, Clévia.

Genet Mol Biol ; 44(2): e20200014, 2021.

Artigo Inglês | MEDLINE | ID: mdl-33821877

12.

Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state.

Rosset, Clévia; Jaeger, Mariane da Cunha; Filippi-Chiela, Eduardo; Reis, Larissa Brussa; Sartor, Ivaine Taís Sauthier; Oliveira Netto, Cristina Brinckmann; Farias, Caroline Brunetto de; Roesler, Rafael; Ashton-Prolla, Patricia.

Genet Mol Biol ; 44(4): e20200475, 2021.

Artigo Inglês | MEDLINE | ID: mdl-34609442

13.

Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia.

Tuazon, Anna Marie De Asis; Lott, Paul; Bohórquez, Mabel; Benavides, Jennyfer; Ramirez, Carolina; Criollo, Angel; Estrada-Florez, Ana; Mateus, Gilbert; Velez, Alejandro; Carmona, Jenny; Olaya, Justo; Garcia, Elisha; Polanco-Echeverry, Guadalupe; Stultz, Jacob; Alvarez, Carolina; Tapia, Teresa; Ashton-Prolla, Patricia; Vega, Ana; Lazaro, Conxi; Tornero, Eva; Martinez-Bouzas, Cristina; Infante, Mar; De La Hoya, Miguel; Diez, Orland; Browning, Brian L; Rannala, Bruce; Teixeira, Manuel R; Carvallo, Pilar; Echeverry, Magdalena; Carvajal-Carmona, Luis G.

Breast Cancer Res ; 22(1): 108, 2020 10 21.

Artigo Inglês | MEDLINE | ID: mdl-33087180

14.

Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil.

Reis, Larissa B; Bakos, Renato M; Vianna, Fernanda S L; Macedo, Gabriel S; Jacovas, Vanessa C; Ribeiro-Dos-Santos, André M; Santos, Sidney; Bakos, Lúcio; Ashton-Prolla, Patricia.

BMC Cancer ; 20(1): 1069, 2020 Nov 09.

Artigo Inglês | MEDLINE | ID: mdl-33167923

15.

Genetic cancer risk assessment: A screenshot of the psychosocial profile of women at risk for hereditary breast and ovarian cancer syndrome.

Campacci, Natalia; de Campos Reis Galvão, Henrique; Garcia, Lucas F; Ribeiro, Paula C; Grasel, Rebeca S; Goldim, José R; Ashton-Prolla, Patrícia; Palmero, Edenir I.

Psychooncology ; 29(4): 681-687, 2020 04.

Artigo Inglês | MEDLINE | ID: mdl-31984583

16.

Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature.

Reis, Larissa Brussa; Konzen, Daniele; Netto, Cristina Brinckmann Oliveira; Braghini, Pedro Moacir Braghirolli; Prolla, Gabriel; Ashton-Prolla, Patricia.

BMC Gastroenterol ; 20(1): 394, 2020 Nov 23.

Artigo Inglês | MEDLINE | ID: mdl-33225890

17.

Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer.

Palmero, Edenir Inêz; Campacci, Natalia; Schüler-Faccini, Lavinia; Giugliani, Roberto; Rocha, José Claudio Casali da; Vargas, Fernando Regla; Ashton-Prolla, Patricia.

Genet Mol Biol ; 43(2): e20190097, 2020.

Artigo Inglês | MEDLINE | ID: mdl-32325485

18.

Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer.

Gomes, Renan; Soares, Barbara Luisa; Felicio, Paula Silva; Michelli, Rodrigo; Netto, Cristina B O; Alemar, Barbara; Ashton-Prolla, Patrícia; Palmero, Edenir Inêz; Moreira, Miguel Ângelo Martins.

Genet Mol Biol ; 43(2): e20190072, 2020.

Artigo Inglês | MEDLINE | ID: mdl-32453342

19.

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

Macedo, Gabriel S; Alemar, Barbara; Ashton-Prolla, Patricia.

Genet Mol Biol ; 42(1 suppl 1): 215-231, 2019.

Artigo Inglês | MEDLINE | ID: mdl-31067289

20.

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, Fernanda Sales Luiz; Giacomazzi, Juliana; Oliveira Netto, Cristina Brinckmann; Nunes, Luciana Neves; Caleffi, Maira; Ashton-Prolla, Patricia; Camey, Suzi Alves.

Genet Mol Biol ; 42(1 suppl 1): 232-237, 2019.

Artigo Inglês | MEDLINE | ID: mdl-31170278

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