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, Simone, Cury, Nathalia Moreno, Brotto, Danielle Barbosa, de Araujo, Luiza Ferreira, Rosa, Reginaldo Cruz Alves, Texeira, Lorena Alves, Plaça, Jessica Rodrigues, Marques, Adriana Aparecida, Peronni, Kamila Chagas, Ruy, Patricia de Cássia, Molfetta, Greice Andreotti, Moriguti, Julio Cesar, Carraro, Dirce Maria, Palmero, Edenir Inêz, Ashton-Prolla, Patricia, de Faria Ferraz, Victor Evangelista, Silva, Jr, Wilson Araujo
Published in BMC medical genomics (10.02.2020)
Published in BMC medical genomics (10.02.2020)
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First description of ultramutated endometrial cancer caused by germline loss-of-function and somatic exonuclease domain mutations in POLE gene
Rosa, Reginaldo Cruz Alves, Yurchenko, Andrey A., Chahud, Fernando, Ribeiro-Silva, Alfredo, Brunaldi, Mariângela Ottoboni, Silva Jr, Wilson Araújo, Kannouche, Patricia L., Nikolaev, Sergey, Ferraz, Victor Evangelista de Faria
Published in Genetics and molecular biology (01.01.2020)
Published in Genetics and molecular biology (01.01.2020)
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Screening of the BRCA1 gene in Brazilian patients with breast and/or ovarian cancer via high-resolution melting reaction analysis
de Oliveira, Eneida Santos, Soares, Bárbara Luisa, Lemos, Sara, Rosa, Reginaldo Cruz Alves, Rodrigues, Angélica Nogueira, Barbosa, Leandro Augusto, de Oliveira Lopes, Débora, dos Santos, Luciana Lara
Published in Familial cancer (01.04.2016)
Published in Familial cancer (01.04.2016)
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Lynch syndrome identification in a Brazilian cohort of endometrial cancer screened by a universal approach
Rosa, Reginaldo Cruz Alves, Santis, Jessica Oliveira, Teixeira, Lorena Alves, Molfetta, Greice Andreotti, dos Santos, Jennifer Thalita Targino, Ribeiro, Vanessa dos Santos, Chahud, Fernando, Ribeiro-Silva, Alfredo, Brunaldi, Mariângela Ottoboni, Silva Jr, Wilson Araújo, Ferraz, Victor Evangelista de Faria
Published in Gynecologic oncology (01.10.2020)
Published in Gynecologic oncology (01.10.2020)
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Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer
dos Santos, Jennifer Thalita Targino, Rosa, Reginaldo Cruz Alves, Pereira, Alison Luis Eburneo, Assunção-Luiz, Alan Vinicius, Bacalá, Bruna Tavares, Ferraz, Victor Evangelista de Faria, Flória, Milena
Published in Genes (01.10.2023)
Published in Genes (01.10.2023)
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XPC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazil
Castro, Ligia Pereira, Batista-Vieira, Danilo, de Souza, Tiago Antonio, Timoteo, Ana Rafaela de Souza, Coutinho, Jessica Dayanna Landivar, Pinheiro de Almeida, Isabel Cristina, Henriques, Sheila Ramos de Miranda, de Azevedo, Fabio Medeiros, Rosa, Reginaldo Cruz Alves, Kannouche, Patricia L, Sarasin, Alain, Menck, Carlos Frederico Martins, Petta, Tirzah Braz
Published in Frontiers in genetics (17.01.2022)
Published in Frontiers in genetics (17.01.2022)
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Journal Article
XPC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazil
Castro, Ligia Pereira, Batista-Vieira, Danilo, de Souza, Tiago Antonio, Timoteo, Ana Rafaela de Souza, Coutinho, Jessica Dayanna Landivar, Pinheiro de Almeida, Isabel Cristina, Henriques, Sheila Ramos de Miranda, Azevedo, Fabio Medeiros De, Rosa, Reginaldo Cruz Alves, Kannouche, Patricia L, Sarasin, Alain, Menck, Carlos Frederico Martins, Petta, Tirzah Braz
Published in Frontiers in genetics (17.01.2022)
Published in Frontiers in genetics (17.01.2022)
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Journal Article
First description of ultramutated endometrial cancer caused by germline loss-of-function and somatic exonuclease domain mutations in POLE gene
Rosa, Reginaldo Cruz Alves, Yurchenko, Andrey A, Chahud, Fernando, Ribeiro-Silva, Alfredo, Brunaldi, Mariângela Ottoboni, Silva Jr, Wilson Araújo, Kannouche, Patricia L, Nikolaev, Sergey, Ferraz, Victor Evangelista de Faria
Published in Genetics and molecular biology (2020)
Published in Genetics and molecular biology (2020)
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