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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification MT Parsons, E Tudini, H Li, E Hahnen, B Wappenschmidt, L Feliubadaló, ... Human mutation 40 (9), 1557-1578, 2019 | 121 | 2019 |
Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry GC Fernandes, RAD Michelli, HCR Galvão, AE Paula, R Pereira, ... Oncotarget 7 (49), 80465, 2016 | 88 | 2016 |
The germline mutational landscape of BRCA1 and BRCA2 in Brazil EI Palmero, DM Carraro, B Alemar, MAM Moreira, A Ribeiro-dos-Santos, ... Scientific reports 8 (1), 9188, 2018 | 78 | 2018 |
Whole‐exome sequencing of non‐BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer PS Felicio, RS Grasel, N Campacci, AE de Paula, HCR Galvão, ... Human mutation 42 (3), 290-299, 2021 | 46 | 2021 |
XAF1 as a modifier of p53 function and cancer susceptibility EM Pinto, BC Figueiredo, W Chen, HCR Galvao, MN Formiga, ... Science advances 6 (26), eaba3231, 2020 | 44 | 2020 |
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America BM Rossi, EI Palmero, F López-Kostner, C Sarroca, CA Vaccaro, ... Bmc Cancer 17, 1-26, 2017 | 41 | 2017 |
Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study RMB Maciel, CP Camacho, LVM Assumpção, NE Bufalo, AL Carvalho, ... Endocrine connections 8 (3), 289-298, 2019 | 40 | 2019 |
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis C Rosset, F Vairo, IC Bandeira, RL Correia, FV De Goes, RTB Da Silva, ... PLoS One 12 (10), e0185713, 2017 | 32 | 2017 |
From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America CA Vaccaro, F López‐Kostner, DV Adriana, EI Palmero, BM Rossi, ... International journal of cancer 145 (2), 318-326, 2019 | 26 | 2019 |
Oncogenetics service and the Brazilian public health system: the experience of a reference Cancer Hospital EI Palmero, HCR Galvão, GC Fernandes, AE Paula, JC Oliveira, ... Genetics and Molecular Biology 39 (2), 168-177, 2016 | 23 | 2016 |
A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries A Della Valle, BM Rossi, EI Palmero, M Antelo, CA Vaccaro, ... European Journal of Cancer 119, 112-121, 2019 | 20 | 2019 |
Ocular features in 16 Brazilian patients with Williams-Beuren syndrome MM Viana, M Frasson, H Galvao, LL Leão, M Stofanko, ... Ophthalmic Genetics 36 (3), 234-238, 2015 | 18 | 2015 |
New insights on familial colorectal cancer type X syndrome FAO Garcia, ES de Andrade, H de Campos Reis Galvão, ... Scientific Reports 12 (1), 2846, 2022 | 17 | 2022 |
Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome NB Schneider, T Pastor, AE Paula, MI Achatz, ÂR Santos, FSL Vianna, ... Cancer medicine 7 (5), 2078-2088, 2018 | 17 | 2018 |
p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers GS Macedo, IA Vieira, FSL Vianna, B Alemar, J Giacomazzi, ... Familial Cancer 17, 269-274, 2018 | 17 | 2018 |
TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling CM Bittar, IA Vieira, CS Sabato, TF Andreis, B Alemar, O Artigalás, ... Familial cancer 18, 451-456, 2019 | 13 | 2019 |
The Brazilian TP53 mutation (R337H) and sarcomas SM Volc, CRN Ramos, HCR Galvão, PS Felicio, AS Coelho, ... PLoS One 15 (1), e0227260, 2020 | 10 | 2020 |
Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome AE de Paula, HCR Galvão, M Bonatelli, C Sabato, GC Fernandes, ... Cancer Genetics 254, 82-91, 2021 | 9 | 2021 |
Using Co-segregation and loss of heterozygosity analysis to define the pathogenicity of unclassified variants in hereditary breast cancer patients RS Grasel, PS Felicio, AE De Paula, N Campacci, FANDO Garcia, ... Frontiers in Oncology 10, 571330, 2020 | 9 | 2020 |