Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients

by Rebeca Silveira Grasel, Paula Silva Felicio, André Escremim de Paula, Natalia Campacci, Felipe Antônio de Oliveira Garcia, Edilene Santos de Andrade, Adriane Feijó Evangelista, Gabriela Carvalho Fernandes, Cristina da Silva Sabato, Pedro De Marchi, Pedro De Marchi, Cristiano de Pádua Souza, Cristiano de Pádua Souza, Cláudia Alessandra Andrade de Paula, Giovana Tardin Torrezan, Henrique de Campos Reis Galvão, Dirce Maria Carraro, Dirce Maria Carraro, Edenir Inêz Palmero, Edenir Inêz Palmero, Edenir Inêz Palmero, Edenir Inêz Palmero
Published 2020-10-01

Genomic rearrangements in BRCA1 and BRCA2: a literature review

by Ingrid Petroni Ewald, Patricia Lisboa Izetti Ribeiro, Edenir Inêz Palmero, Silvia Liliana Cossio, Roberto Giugliani, Patricia Ashton-Prolla
Published 2009-01-01

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

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

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

by Edenir Inêz Palmero, Bárbara Alemar, Lavínia Schüler-Faccini, Pierre Hainaut, Carlos Alberto Moreira-Filho, Ingrid Petroni Ewald, Patricia Koehler dos Santos, Patricia Lisbôa Izetti Ribeiro, Cristina Brinkmann de Oliveira Netto, Florence Le Calvez Kelm, Sean Tavtigian, Silvia Liliana Cossio, Roberto Giugliani, Maira Caleffi, Patricia Ashton-Prolla
Published 2016-01-01

miRNA expression profiling of hereditary breast tumors from BRCA1- and BRCA2-germline mutation carriers in Brazil

by Danielle Pessôa-Pereira, Adriane Feijó Evangelista, Rhafaela Lima Causin, René Aloisio da Costa Vieira, Lucas Faria Abrahão-Machado, Iara Viana Vidigal Santana, Vinicius Duval da Silva, Karen Cristina Borba de Souza, Renato José de Oliveira-Silva, Gabriela Carvalho Fernandes, Rui Manuel Reis, Edenir Inêz Palmero, Márcia Maria Chiquitelli Marques
Published 2020-02-01

Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with <i>MSH2</i> Germline Pathogenic Variants

by Nathália de Angelis de Carvalho, Bianca Naomi Niitsuma, Vanessa Nascimento Kozak, Felipe D’almeida Costa, Mariana Petaccia de Macedo, Bruna Elisa Catin Kupper, Maria Letícia Gobo Silva, Maria Nirvana Formiga, Sahlua Miguel Volc, Samuel Aguiar Junior, Edenir Inez Palmero, José Cláudio Casali-da-Rocha, Dirce Maria Carraro, Giovana Tardin Torrezan
Published 2020-07-01

BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome

by Ingrid Petroni Ewald, Silvia Liliana Cossio, Edenir Inez Palmero, Manuela Pinheiro, Ivana Lucia de Oliveira Nascimento, Taisa Manuela Bonfim Machado, Kiyoko Abe Sandes, Betânia Toralles, Bernardo Garicochea, Patricia Izetti, Maria Luiza Saraiva Pereira, Hugo Bock, Fernando Regla Vargas, Miguel Ângelo Martins Moreira, Ana Peixoto, Manuel R. Teixeira, Patricia Ashton-Prolla
Published 2016-06-01

The Brazilian TP53 mutation (R337H) and sarcomas.

by Sahlua Miguel Volc, Cíntia Regina Niederauer Ramos, Henrique de Campos Reis Galvão, Paula Silva Felicio, Aline Silva Coelho, Gustavo Noriz Berardineli, Natalia Campacci, Cristina da Silva Sabato, Lucas Faria Abrahao-Machado, Iara Viana Vidigal Santana, Nathalia Campanella, André van Helvoort Lengert, Daniel Onofre Vidal, Rui Manuel Reis, Caio F Dantas, Robson C Coelho, Erica Boldrini, Sergio Vicente Serrano, Edenir Inêz Palmero
Published 2020-01-01

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

by Simone da Costa e Silva Carvalho, Nathalia Moreno Cury, Danielle Barbosa Brotto, Luiza Ferreira de Araujo, Reginaldo Cruz Alves Rosa, Lorena Alves Texeira, Jessica Rodrigues Plaça, Adriana Aparecida Marques, Kamila Chagas Peronni, Patricia de Cássia Ruy, Greice Andreotti Molfetta, Julio Cesar Moriguti, Dirce Maria Carraro, Edenir Inêz Palmero, Patricia Ashton-Prolla, Victor Evangelista de Faria Ferraz, Wilson Araujo Silva Jr
Published 2020-02-01

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America

by Benedito Mauro Rossi, Edenir Inêz Palmero, Francisco López-Kostner, Carlos Sarroca, Carlos Alberto Vaccaro, Florencia Spirandelli, Patricia Ashton-Prolla, Yenni Rodriguez, Henrique de Campos Reis Galvão, Rui Manuel Reis, André Escremim de Paula, Luis Gustavo Capochin Romagnolo, Karin Alvarez, Adriana Della Valle, Florencia Neffa, Pablo German Kalfayan, Enrique Spirandelli, Sergio Chialina, Melva Gutiérrez Angulo, Maria del Carmen Castro-Mujica, Julio Sanchez de Monte, Richard Quispe, Sabrina Daniela da Silva, Norma Teresa Rossi, Claudia Barletta-Carrillo, Susana Revollo, Ximena Taborga, L. Lena Morillas, Hélène Tubeuf, Erika Maria Monteiro-Santos, Tamara Alejandra Piñero, Constantino Dominguez-Barrera, Patrik Wernhoff, Alexandra Martins, Eivind Hovig, Pål Møller, Mev Dominguez-Valentin
Published 2017-09-01