Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect
Garritano, Sonia, Gemignani, Federica, Palmero, Edenir Inez, Olivier, Magali, Martel-Planche, Ghyslaine, Le Calvez-Kelm, Florence, Brugiéres, Laurence, Vargas, Fernando Regla, Brentani, Ricardo Renzo, Ashton-Prolla, Patricia, Landi, Stefano, Tavtigian, Sean V., Hainaut, Pierre, Achatz, Maria Isabel W.·2010·Human Mutation
Cited by (153)
Items 101–153 of 153
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- Li–Fraumeni SyndromeDavid M. Malkin · 2009 · Springer eBooks
- Prevalence of an inherited cancer predisposition syndrome associated with the germ line TP53 R337H mutation in ParaguayEdith Falcon-de Legal, Marta Ascurra, Gislaine Custódio, Horacio Legal-Ayala, Magna Maria Monteiro, Celeste Vega, María José Fernández-Nestosa, Sonia Vega, Elis R. Sade, Izabel M.M. Coelho et al. · 2015 · Cancer Epidemiology
- Adrenal Tumors in ChildhoodJohn S. Fuqua · 2021 · Advances in Pediatrics
- p53 mutants G245S and R337H associated with the Li-Fraumeni syndrome regulate distinct metabolic pathwaysBruna Valandro Meneghetti, Richard Wilson, Camila Kehl Dias, Nathan Araujo Cadore, Fábio Klamt, Arnaldo Zaha, Henrique Bunselmeyer Ferreira, Karina Mariante Monteiro · 2022 · Biochimie
- TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like SyndromesPaula Francinete Faustino da Silva, Rebeca Mota Goveia, Thaís Bomfim Teixeira, Bruno Faulin Gamba, Aliny Pereira de Lima, Sílvia Regina Rogatto, Elisângela de Paula Silveira-Lacerda · 2022 · Biomolecules
- Functional pri-miR-34b/c rs4938723 and KRAS 3′UTR rs61764370 SNPs: Novel phenotype modifiers in Li-Fraumeni Syndrome?Igor Araújo Vieira, Eduarda Heidrich Pezzi, Isabel Cristina Bandeira, Larissa Brussa Reis, Yasminne Marinho de Araújo Rocha, Bruna Fernandes, Marina Siebert, Kendi Nishino Miyamoto, M Siqueira, Maria Isabel Achatz et al. · 2023 · Gene
- TP53 p.R337H Germline Variant among Women at Risk of Hereditary Breast Cancer in a Public Health System of Midwest BrazilTatiana Strava Correa, Paula Fontes Asprino, Eduarda Sabá Cordeiro de Oliveira, Ana Carolina Rathsam Leite, Luiza Nardin Weis, Maria Isabel Achatz, Claudiner Pereira de Oliveira, Renata Lazari Sandoval, Romualdo Barroso‐Sousa · 2024 · Genes
- Lessons learnt from the clinico-genomic profiling of families with Li Fraumeni syndrome at a tertiary care centre in North IndiaGhazal Tansir, Sameer Rastogi, SravanKumar Dubasi, Sindhu Chitikela, Rohit Reddy Lavu, Adarsh Wamanrao Barwad, Ankur Goyal · 2023 · ecancermedicalscience
- Progress in the Genetics of Myelodysplastic Syndromes with a Latin American PerspectiveAna Lisa Basquiera, Verónica Andreoli, Sofía Grille, Carolina Belli · 2025 · Genes
- Molecular Analyses of Early-Onset Gastric Cancer in Brazilian Patients: TP53 Mutations, Cadherin-Catenin and Mucins Proteins ExpressionEdaise Maria da Silva, José Humberto Tavares Guerreiro Fregnani, Ghyslaine Martel‐Planche, Wilson Luiz da Costa, Felipe José Fernández Coimbra, Maria Isabel Achatz, Pierre L. Hainaut, Fernando Augusto Soares · 2013 · Journal of Cancer Therapy
- Hereditary breast cancerRenata Mendes de Freitas, Pedro Henrique de Oliveira Medeiros, Maximiliano Ribeiro Guerra, Maria Teresa Bustamante-Teixeira · 2021 · Mastology
- Histopathological and Molecular Characteristics of Pediatric Adrenocortical Tumors: where Do we Stand?Christianne C. Swart, Ronald R. de Krijger · 2026 · Endocrine Pathology
- The Role of New Sequencing Technology in Identifying Rare Mutations in New Susceptibility Genes for CancerMelissa C. Southey · 2013 · Current Genetic Medicine Reports
- Prevalence and clinical implications of the TP53 p.R337H mutation in Brazilian breast cancer patientsEduardo Silvestre Vaz Costa, Isabelle Franco Melazzo, Nathália Amaral Nogueira, Deidimar Cássia Batista Abreu, Flávio Monteiro Ayres, Vera Aparecida Saddi · 2020 · Mastology
- Investigación genética del cáncer de mama hereditario en Latinoamérica y el Caribe: una revisión sistemáticaJackeline de Fátima Martínez González, Marianela Corriols · 2023 · Revista Torreón Universitario
- Li–Fraumeni syndrome: a role for surgical pathologists?Brendan Craig Dickson · 2012 · Diagnostic histopathology
- Li-Fraumeni 症候群 −最新の報告から−恒松 由記子 · 2010
- Como o ginecologista pode orientar mulheres com antecedentes familiares de câncer?Victor Evangelista de Faria Ferraz, Nathália Moreno Cury · 2014 · Revista Brasileira Ginecologia e Obstetrícia
- Molecular and Epigenetic Insights into RASSF1A Regulated Pathways in Inflammatory Bowel DiseaseMohamed Salla · 2018 · ERA: Education and Research Archive (University of Alberta)
- Tumor Spectrum and Temporal Cancer Trends in Adult Carriers of Li-Fraumeni Syndrome: Implications for Personalized Screening Strategies in TP53 R337H CarriersPedro A. F. Galante, Gabriela D. A. Guardia, Janina Pontes Pisani, Renata Lazari Sandoval, Mateus Camargo Barros‐Filho, Ana Carolina Leite Vieira Costa Gifoni, Diogo Ferreira da Costa Patrão, Patrícia Ashton‐Prolla, Vitor Fiorin de Vasconcellos, Claire Freyçon et al. · 2024 · SSRN Electronic Journal
- Genetic factors in childhood cancer. Associations between tumors in childhood and adulthood, and prevalence of germline TP53 mutationsSusanne Magnusson · 2012 · Lund University Publications (Lund University)
- Tumors of the Adrenal GlandSimon Ching-Shun Kao, Alfredo Pinto-Rojas · 2014 · Springer eBooks
- Genetics of Adrenal TumorsAntônio Marcondes Lerário, Thomas J. Giordano, Gary Douglas Hammer · 2013 · Elsevier eBooks
- Brazilian Story of the R337H p53 MutationJana Šmardová, Jana Koptíková · 2014 · Klinicka onkologie
- Patched Domain-containing 4 (PTCH53) Identified in Li-Fraumeni Syndrome Patient-derived CellsAnna Pan · 2018 · TSpace (University of Toronto)
- how The Gynecologist Can Guide Women With A Family History Of CancerVictor Evangelista de Faria Ferraz, Nathália Moreno Cury · 2014 · PubMed
- Identification of High risk nsSNPs in Human TP53 Gene Associated with Li–Fraumeni Syndrome: An In Silico Analysis ApproachMujahed I. Mustafa, Naseem S. Murshed, Mazen A. Elbasher, Abdelrafie Mohamed Makhawi · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
- Inherited Pediatric Cancer in Low- and Intermediate-Resource CountriesMaria Isabel Achatz, Patrícia Ashton‐Prolla, Hany Ariffin, Pierre L. Hainaut · 2021 · Springer eBooks
- Genetics of Familial Forms of Cortisol-Secreting Adrenal Tumors and HyperplasiasLudivine Drougat, Constantine A. Stratakis · 2018 · Elsevier eBooks
- Cancer Surveillance for Patients with Li-Fraumeni Syndrome in Brazil is Cost-EffectiveIsadora A. Frankenthal, Mariana Cartaxo Alves, Casey R. Tak, Maria Isabel Achatz · 2021 · SSRN Electronic Journal
- Genetics of adrenal tumorsAntônio Marcondes Lerário, Dipika R. Mohan, Thomas J. Giordano, Gary Douglas Hammer · 2023 · Elsevier eBooks
- Importancia del diagnóstico y la vigilancia de pacientes con predisposición genética al cáncer: A propósito del gen TP53Marjorie Guerrero-Juscamayta, Kelly Franco-Bustamante, Vicente Leandro Cruzate Cabrejos, Gioconda Manassero‐Morales, Julio A. Poterico · 2023 · Investigación e Innovación Clínica y Quirúrgica Pediátrica
- SÍNDROME DE LI-FRAUMENI: UM RELATO DE CASO DE UMA JOVEM COM LEIOMIOSSARCOMA PANCREÁTICOMaria Júlia Cunha de Sá Gonçalves, Rafhael Mendes Barros, Ellen Rodrigues de Sousa Rosa, Brunela Pimentel de Oliveira, Victória Santos Barbosa, Amanda de Oliveira Franco, Renata Alvim Mendes · 2024 · Revista Foco
- Tumor Spectrum and Temporal Cancer Trends in adult carriers of Li-Fraumeni syndrome: Implications for Personalized Screening Strategies in TP53 R337H carriersPedro A. F. Galante, Gabriela D. A. Guardia, Janina Pontes Pisani, Renata Lazari Sandoval, Mateus Camargo Barros‐Filho, Ana Carolina Leite Vieira Costa Gifoni, Diogo Ferreira da Costa Patrão, Patrícia Ashton‐Prolla, Vitor Fiorin de Vasconcellos, Claire Freyçon et al. · 2024 · medRxiv
- Rapidly growing adrenal gland tumor in a female patient with a history of colon cancerBojan Marković, Mirjana Stojković, Sanja Klet, Tamara Janić, Jovana Babić, Ivana Đurković, Biljana Nedeljković-Beleslin, Jasmina Ćirić, Miloš Žarković · 2024 · Medicinski glasnik Specijalne bolnice za bolesti štitaste žlezde i bolesti metabolizma
- Germline Genetic Variants in Cancer Predisposition Genes in Patients From Latin America and the CaribbeanTalía Wegman-Ostrosky, Lucía Taja‐Chayeb, Zyanya Lucía Zatarain-Barrón, Catalina Trejo‐Becerril, Alfredo Ramírez-González, Jimena Romo-Huerta, Lisa Ximena Rodriguez-Rojas, Isabel Espino-Gutiérrez, Zacil Ha Vilchis-Zapata, Sylvia Harari-Arakindji et al. · 2025 · JCO Global Oncology
- Reconstructing the Origin and Demographic Expansion of the TP53 p.R337H Founder Variant in BrazilEmilia Modolo Pinto, João C. D. Muzzi, José Andrés Yunes, Bonald Cavalcante de Figueiredo, Raul Correa Ribeiro, Gerard P. Zambetti · 2025 · Cancer Epidemiology Biomarkers & Prevention
- Genetic Counseling for TP53 Germline MutationsMaria Isabel Achatz, Patrícia Ashton‐Prolla · 2012 · Springer eBooks
- Hereditary Conditions Associated with Adrenocortical Carcinoma, Pheochromocytoma, and Other Adrenal TumorsSamantha E. Greenberg, Catherine M Skefos, Jennie Vagher · 2026 · Endocrinology and Metabolism Clinics of North America
- Genetics of Familial Forms of Cortisol-Secreting Adrenal Tumors and HyperplasiasLudivine Drougat, Constantine A. Stratakis · 2019 · Elsevier eBooks
- N-terminal isoforms of the p53 tumour suppressor protein : effects on p53 transcriptional activity and expression in cutaneous melanomaHind Hafsi · 2012 · theses.fr (ABES)
- Syndrome de Li-Fraumeni,Corticosurrénalomes et autres tumeurs pédiatriquesMariette Renaux‐Petel · 2020 · theses.fr (ABES)
- Patched as a new target for adrenocortical carcinoma treatmentAnida Hasanovic · 2018 · theses.fr (ABES)
- Syndrοme de Li-Fraumeni : apprοches fοnctiοnnelles visant à appréhender la variabilité génοtypique et phénοtypiqueJeanne Louis · 2025 · theses.fr (ABES)
- Cancer Predisposition in Li-Fraumeni SyndromeLaura Raiti, Meis Omran, David M. Malkin · 2026 · Annual Review of Cancer Biology
- The Biology of Hypomorphic TP53 Variants and Implications for Clinical ManagementRenyta Moses, Jacquelyn M. Powers, Alison Schwartz, Judy Ellen Garber, Suzanne P. MacFarland, Huma Q. Rana, Maureen E. Murphy, Kara N. Maxwell · 2026 · Clinical Cancer Research
- Explainable Artificial Intelligence for Prediction of Li-Fraumeni Syndrome and TP53 p.R337H Founder Variant in BrazilA. C. Ricciardi, Roseli Aparecida Francelin Romero, José Cláudio Casali da Rocha · 2026 · Lecture notes in computer science
- Hereditary Breast Cancer in a Brazilian Referral Cohort: Germline Diversity and Genotype–Phenotype AssociationsAndré Luiz Cicilini, Patrick Vinicius Cerqueira Batista, Sandrine M. Caputo, Viviane Primo Basílio de Souza, Solange Moraes Sanchez, Fabiana Baroni Alves Makdissi, Marina De Brot, Marina Assis da Escócia Fernandes, Beatriz Nelli Barbatto, Letícia Coelho de Mattos et al. · 2026 · International Journal of Molecular Sciences
- Prevalence of the germline TP53 p.R337H mutation in families with multiple cases of cancerKelvin C. de Andrade · 2013 · Acervo Digital da Universidade Estadual Paulista (Universidade Estadual Paulista)