Mismatch repair deficiency in bilateral breast cancer

Authors: Milena Massumi Kozonoe, Jacqueline Justino Nabhen, Bruno Ribeiro Batista, Lucas Novello, Edenir Inêz Palmero, Sérgio Ossamu Ioshii, Júlia Costa Linhares

Source: Surgical and Experimental Pathology, Vol 7, Iss 1, Pp 1-8 (2024)

Subject Terms: Breast cancer, Bilateral breast cancer, Microsatellite instability, Mismatch repair deficiency, Mutational load, Immunotherapy, Surgery, RD1-811, Pathology, RB1-214

File Description: electronic resource

Relation: https://doaj.org/toc/2520-8454

Access URL: https://doaj.org/article/9289c3e5441b494d8d549ec524986eff

The history of families at-risk for hereditary breast and ovarian cancer: what are the impacts of genetic counseling and testing?

Authors: Natalia Campacci, Rebeca Silveira Grasel, Henrique de Campos Reis Galvão, Lucas França Garcia, Paula Carvalho Ribeiro, Kercy Fram de Jesus de Sena Pereira, José Roberto Goldim, Patricia Ashton-Prolla, Edenir Inêz Palmero

Source: Frontiers in Psychology, Vol 15 (2024)

Subject Terms: genetics, hereditary cancer, genetic counseling, breast and ovarian cancer predisposition syndrome, family dynamics, Psychology, BF1-990

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyg.2024.1306388/full; https://doaj.org/toc/1664-1078

Access URL: https://doaj.org/article/ac6b1c0b14a14b17b4e1c102022c97c2

Cost-Effectiveness of BRCA 1/2 Genetic Test and Preventive Strategies: Using Real-World Data From an Upper-Middle Income Country

Authors: Marina Lourenção, Julia Simões Correa Galendi, Henrique de Campos Reis Galvão, Augusto Perazzolo Antoniazzi, Rebeca Silveira Grasel, André Lopes Carvalho, Edmundo Carvalho Mauad, Jorge Henrique Caldeira de Oliveira, Rui Manuel Reis, Olena Mandrik, Edenir Inêz Palmero

Source: Frontiers in Oncology, Vol 12 (2022)

Subject Terms: breast cancer, ovarian cancer, BRCA genetic test, preventive strategies, cost-effectiveness, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2022.951310/full; https://doaj.org/toc/2234-943X

Access URL: https://doaj.org/article/d36ac559b33e49cca7db0f85bf4d8f31

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

Authors: 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

Source: BMC Cancer, Vol 20, Iss 1, Pp 1-10 (2020)

Subject Terms: microRNA, Biomarker, NanoString, Hereditary breast tumors, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12885-020-6640-y; https://doaj.org/toc/1471-2407

Access URL: https://doaj.org/article/91276201708c4205b6c19dc18cd81cb7

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

Authors: 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

Source: BMC Medical Genomics, Vol 13, Iss 1, Pp 1-24 (2020)

Subject Terms: HBOC, DNA repair genes, Multi-gene panel screening, Next-generation sequencing, Molecular diagnosis, BRCA1, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/7017c847d5db4a25b8ac154488e75410

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

Authors: 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, Cristiano de Pádua Souza, Cláudia Alessandra Andrade de Paula, Giovana Tardin Torrezan, Henrique de Campos Reis Galvão, Dirce Maria Carraro, Edenir Inêz Palmero

Source: Frontiers in Oncology, Vol 10 (2020)

Subject Terms: genetics, hereditary breast and ovarian cancer predisposition syndrome, hereditary cancer, variant of unknown significance, segregation analysis, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fonc.2020.571330/full; https://doaj.org/toc/2234-943X

Access URL: https://doaj.org/article/9d0b2b6e93ec44d29e8eecba43646e6d

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

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

Source: Genetics and Molecular Biology, Vol 43, Iss 2 (2020)

Subject Terms: Hereditary breast cancer, hereditary cancer, cancer-related worry, cancer risk perception, genetic counselling, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400104&tlng=en; http://www.scielo.br/pdf/gmb/v43n2/1415-4757-gmb-43-2-e20190097.pdf; https://doaj.org/toc/1678-4685

Access URL: https://doaj.org/article/1f2b6f38ba8246969f067bed4f02ad44

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

Authors: Nayê Balzan Schneider, Tatiane Pastor, André Escremim de Paula, Maria Isabel Achatz, Ândrea Ribeiro dos Santos, Fernanda Sales Luiz Vianna, Clévia Rosset, Manuela Pinheiro, Patricia Ashton‐Prolla, Miguel Ângelo Martins Moreira, Edenir Inêz Palmero, Brazilian Lynch Syndrome Study Group

Source: Cancer Medicine, Vol 7, Iss 5, Pp 2078-2088 (2018)

Subject Terms: Colorectal cancer, Lynch syndrome, MMR genes, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/2045-7634

Access URL: https://doaj.org/article/cb5a310aee374f4c9feb6231d782cc58

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

Authors: 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

Source: BMC Cancer, Vol 17, Iss 1, Pp 1-26 (2017)

Subject Terms: Lynch syndrome, Mmr, Latin America, Variants, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12885-017-3599-4; https://doaj.org/toc/1471-2407

Access URL: https://doaj.org/article/1c493e85a2f64dbc8249789857b5f939

The Brazilian TP53 mutation (R337H) and sarcomas.

Authors: 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

Source: PLoS ONE, Vol 15, Iss 1, p e0227260 (2020)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/211ea98f438a42eb99e7b1a1cf8e8b58

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

Authors: 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

Source: Genetics and Molecular Biology, Vol 39, Iss 2, Pp 210-222 (2016)

Subject Terms: Breast cancer predisposition syndrome, hereditary breast cancer, genetic cancer risk assessment, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200210&tlng=en; http://www.scielo.br/pdf/gmb/v39n2/1415-4757-gmb-1678-4685-GMB-2014-0363.pdf; https://doaj.org/toc/1678-4685

Access URL: https://doaj.org/article/810be833e7944b5fa49e331c89a734aa

Genomic rearrangements in BRCA1 and BRCA2: a literature review

Authors: Ingrid Petroni Ewald, Patricia Lisboa Izetti Ribeiro, Edenir Inêz Palmero, Silvia Liliana Cossio, Roberto Giugliani, Patricia Ashton-Prolla

Source: Genetics and Molecular Biology, Vol 32, Iss 3, Pp 437-446 (2009)

Subject Terms: BRCA1, BRCA2, breast cancer, genomic rearrangements, MLPA, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300003; https://doaj.org/toc/1415-4757; https://doaj.org/toc/1678-4685

Access URL: https://doaj.org/article/d13de3657dd9420fb6ec29ef8096ec29

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

Authors: 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

Source: Genetics and Molecular Biology, Vol 43, Iss 2

Subject Terms: founder mutation, ashkenazi jewish, brca1, brca1 c.5266dupc, hereditary breast cancer, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400106&lng=en&tlng=en; https://doaj.org/toc/1415-4757; https://doaj.org/toc/1678-4685

Access URL: https://doaj.org/article/4a70f7b6e040486f9134f1896ed6fd55

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

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

Source: Genetics and Molecular Biology, Vol 46, Iss 3 suppl 1 (2024)

Subject Terms: rs78378222, non-coding variant, 3’ untranslated region, TP53 gene, somatic analyses, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572023000600118&tlng=en; https://doaj.org/toc/1678-4685

Access URL: https://doaj.org/article/1842083036564d94b5d4456d0ea54ce3

New insights on familial colorectal cancer type X syndrome

Authors: Felipe Antonio de Oliveira Garcia, Edilene Santos de Andrade, Henrique de Campos Reis Galvão, Cristina da Silva Sábato, Natália Campacci, Andre Escremin de Paula, Adriane Feijó Evangelista, Iara Viana Vidigal Santana, Matias Eliseo Melendez, Rui Manuel Reis, Edenir Inez Palmero

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/98fb41d67fd1417e81bfd791b569a1b5

Insights on variant analysis in silico tools for pathogenicity prediction

Authors: Felipe Antonio de Oliveira Garcia, Edilene Santos de Andrade, Edenir Inez Palmero

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: in silico, pathogenicity prediction, bioinformatics, variant classification, next generating sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1010327/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/48578514220f41c7a2a98e86dbc7b601

Hereditary Breast Cancer in the Brazilian State of Ceará (The CHANCE Cohort): Higher-Than-Expected Prevalence of Recurrent Germline Pathogenic Variants

Authors: Ana Carolina Leite Vieira Costa Gifoni, Markus Andret Cavalcante Gifoni, Camila Martins Wotroba, Edenir Inez Palmero, Eduardo Leite Vieira Costa, Wellington dos Santos, Maria Isabel Achatz

Source: Frontiers in Oncology, Vol 12 (2022)

Subject Terms: hereditary cancer, breast cancer, panel testing, BRCA1/2, PALB2, CHEK2, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2022.932957/full; https://doaj.org/toc/2234-943X

Access URL: https://doaj.org/article/ac152bc46c2c44369b99fe67a03affe1

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

Authors: 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

Source: Genetics and Molecular Biology, Vol 39, Iss 2, Pp 223-231 (2016)

Subject Terms: Breast cancer, Hereditary Breast and Ovarian Cancer syndrome, gene rearrangements, BRCA gene, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200223&lng=en&tlng=en; https://doaj.org/toc/1678-4685

Access URL: https://doaj.org/article/e8407e3941224ccda68d529b30c0bf5f