| Baseline surveillance in Li-Fraumeni syndrome using whole-body magnetic resonance imaging: a meta-analysis ML Ballinger, A Best, PL Mai, PP Khincha, JT Loud, JA Peters, MI Achatz, ... JAMA oncology 3 (12), 1634-1639, 2017 | 171 | 2017 |
| Variable population prevalence estimates of germline TP53 variants: A gnomAD‐based analysis KC de Andrade, MN Frone, T Wegman‐Ostrosky, PP Khincha, J Kim, ... Human mutation 40 (1), 97-105, 2019 | 90 | 2019 |
| 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 |
| Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation KC Andrade, KM Santiago, FP Fortes, LI Mambelli, AF Nóbrega, ... Genetics and molecular biology 39, 199-202, 2016 | 22 | 2016 |
| Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients KM Santiago, LP Castro, JPD Neto, AF de Nóbrega, CAL Pinto, ... Journal of the European Academy of Dermatology and Venereology 34 (10), 2392 …, 2020 | 20 | 2020 |
| Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2. 0 list in a large cancer cohort and ethnicity-matched controls J Kim, W Luo, M Wang, T Wegman-Ostrosky, MN Frone, JJ Johnston, ... Genome medicine 10, 1-9, 2018 | 20 | 2018 |
| Frequency of pathogenic germline variants in cancer-susceptibility genes in the Childhood Cancer Survivor Study J Kim, M Gianferante, DM Karyadi, SW Hartley, MN Frone, W Luo, ... JNCI Cancer Spectrum 5 (2), pkab007, 2021 | 17 | 2021 |
| Xeroderma Pigmentosum: Low Prevalence of Germline XPA Mutations in a Brazilian XP Population KM Santiago, A França de Nóbrega, RM Rocha, SR Rogatto, MI Achatz International journal of molecular sciences 16 (4), 8988-8996, 2015 | 16 | 2015 |
| Li-Fraumeni Exploration Consortium Data Coordinating Center: building an interactive web-based resource for collaborative international cancer epidemiology research for a rare … PL Mai, SR Sand, N Saha, M Oberti, T Dolafi, L DiGianni, EJ Root, X Kong, ... Cancer Epidemiology, Biomarkers & Prevention 29 (5), 927-935, 2020 | 10 | 2020 |
| Rare germline alterations in cancer-related genes associated with the risk of multiple primary tumor development RAR Villacis, TR Basso, LM Canto, M Pinheiro, KM Santiago, ... Journal of Molecular Medicine 95, 523-533, 2017 | 10 | 2017 |
| Genomics and epidemiology for gastric adenocarcinomas (GE4GAC): a Brazilian initiative to study gastric cancer GE4GAC group, TF Bartelli, LL Senda de Abrantes, HC Freitas, ... Applied Cancer Research 39, 1-4, 2019 | 9 | 2019 |
| Germline pathogenic variants in patients with early-onset neuroendocrine neoplasms RP Riechelmann, MDS Donadio, VHF de Jesus, NA de Carvalho, ... Endocrine-Related Cancer 30 (6), 2023 | 5 | 2023 |
| Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes NA de Carvalho, KM Santiago, JML Maia, FDA Costa, MN Formiga, ... Journal of Medical Genetics 61 (1), 61-68, 2024 | 4 | 2024 |
| MIR605 rs2043556 is associated with the occurrence of multiple primary tumors in TP53 p.(Arg337His) mutation carriers IC Bandeira, IA Vieira, TF Andreis, LB Reis, GS Macedo, FSL Vianna, ... Cancer Genetics 240, 54-58, 2020 | 4 | 2020 |
| Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer M Pinheiro, FCS Lupinacci, KM Santiago, SA Drigo, FA Marchi, ... Cancers 12 (5), 1289, 2020 | 3 | 2020 |
| O-14 Young adults with neuroendocrine tumors present a high rate of pathogenic or likely pathogenic germline variants in cancer-predisposing genes R Riechelmann, C de Paula, M Donadio, K Santiago, N de Carvalho, ... Annals of Oncology 31, 236-237, 2020 | 1 | 2020 |
| Response to: concern regarding classification of germlineTP53 variants as likely pathogenic KC de Andrade, MN Frone, T Wegman-Ostrosky, PP Khincha, J Kim, ... Human mutation 40 (6), 832-833, 2019 | 1 | 2019 |
| Prevalence of germline TP53 p.R337H mutation in Brazilian young breast cancer patients. FP Fortes, R Tonhosolo, R Jbili, KM Santiago, K Andrade, AF Nobrega, ... Journal of Clinical Oncology 35 (15_suppl), e13101-e13101, 2017 | 1 | 2017 |
| Molecular and clinical profile of Li-Fraumeni Syndrome in a Brazilian cohort. MNC Formiga, AF Nobrega, KM Santiago, MIW Achatz Journal of Clinical Oncology 33 (15_suppl), e12533-e12533, 2015 | 1 | 2015 |
| Identification of a rare germ-line variant in the TP53 3’UTR in individuals with the Li-Fraumeni-like phenotype: A new mechanism of cancer predisposition? GS Macedo, I Araujo Vieira, V Cortez-Paixão, J Giacomazzi, KM Santiago, ... Journal of Clinical Oncology 32 (15_suppl), 11106-11106, 2014 | 1 | 2014 |
