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

  1. Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer
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    Sonir Roberto Rauber Antonini, Leandro Machado Colli, Leticia Ferro, Lívia M. Mermejo, Margaret de Castro · 2011 · Arquivos Brasileiros de Endocrinologia & Metabologia
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    Eduardo Perrone, Luiza do Amaral Virmond, Antônio Victor Campos Coelho, Marina de Franca Basto Silva, Carolina Moreno, Joana Rosa Marques Prota, Jessica Grasiela Araujo Espolaor, Michele Patricia Migliavacca, Thiago Yoshinaga Tonholo Silva, Caio Robledo D’Angioli Costa Quaio et al. · 2025 · Journal of Human Genetics
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  5. Li–Fraumeni Syndrome
    David M. Malkin · 2009 · Springer eBooks
  6. Prevalence of an inherited cancer predisposition syndrome associated with the germ line TP53 R337H mutation in Paraguay
    Edith 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
  7. Adrenal Tumors in Childhood
    John S. Fuqua · 2021 · Advances in Pediatrics
  8. p53 mutants G245S and R337H associated with the Li-Fraumeni syndrome regulate distinct metabolic pathways
    Bruna Valandro Meneghetti, Richard Wilson, Camila Kehl Dias, Nathan Araujo Cadore, Fábio Klamt, Arnaldo Zaha, Henrique Bunselmeyer Ferreira, Karina Mariante Monteiro · 2022 · Biochimie
  9. TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like Syndromes
    Paula 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
  10. 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
  11. TP53 p.R337H Germline Variant among Women at Risk of Hereditary Breast Cancer in a Public Health System of Midwest Brazil
    Tatiana 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
  12. Lessons learnt from the clinico-genomic profiling of families with Li Fraumeni syndrome at a tertiary care centre in North India
    Ghazal Tansir, Sameer Rastogi, SravanKumar Dubasi, Sindhu Chitikela, Rohit Reddy Lavu, Adarsh Wamanrao Barwad, Ankur Goyal · 2023 · ecancermedicalscience
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    Ana Lisa Basquiera, Verónica Andreoli, Sofía Grille, Carolina Belli · 2025 · Genes
  14. Molecular Analyses of Early-Onset Gastric Cancer in Brazilian Patients: TP53 Mutations, Cadherin-Catenin and Mucins Proteins Expression
    Edaise 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
  15. Hereditary breast cancer
    Renata Mendes de Freitas, Pedro Henrique de Oliveira Medeiros, Maximiliano Ribeiro Guerra, Maria Teresa Bustamante-Teixeira · 2021 · Mastology
  16. Histopathological and Molecular Characteristics of Pediatric Adrenocortical Tumors: where Do we Stand?
    Christianne C. Swart, Ronald R. de Krijger · 2026 · Endocrine Pathology
  17. The Role of New Sequencing Technology in Identifying Rare Mutations in New Susceptibility Genes for Cancer
    Melissa C. Southey · 2013 · Current Genetic Medicine Reports
  18. Prevalence and clinical implications of the TP53 p.R337H mutation in Brazilian breast cancer patients
    Eduardo Silvestre Vaz Costa, Isabelle Franco Melazzo, Nathália Amaral Nogueira, Deidimar Cássia Batista Abreu, Flávio Monteiro Ayres, Vera Aparecida Saddi · 2020 · Mastology
  19. Investigación genética del cáncer de mama hereditario en Latinoamérica y el Caribe: una revisión sistemática
    Jackeline de Fátima Martínez González, Marianela Corriols · 2023 · Revista Torreón Universitario
  20. Li–Fraumeni syndrome: a role for surgical pathologists?
    Brendan Craig Dickson · 2012 · Diagnostic histopathology
  21. Li-Fraumeni 症候群 −最新の報告から−
    恒松 由記子 · 2010
  22. 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
  23. Molecular and Epigenetic Insights into RASSF1A Regulated Pathways in Inflammatory Bowel Disease
    Mohamed Salla · 2018 · ERA: Education and Research Archive (University of Alberta)
  24. Tumor Spectrum and Temporal Cancer Trends in Adult Carriers of Li-Fraumeni Syndrome: Implications for Personalized Screening Strategies in TP53 R337H Carriers
    Pedro 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
  25. Genetic factors in childhood cancer. Associations between tumors in childhood and adulthood, and prevalence of germline TP53 mutations
    Susanne Magnusson · 2012 · Lund University Publications (Lund University)
  26. Tumors of the Adrenal Gland
    Simon Ching-Shun Kao, Alfredo Pinto-Rojas · 2014 · Springer eBooks
  27. Genetics of Adrenal Tumors
    Antônio Marcondes Lerário, Thomas J. Giordano, Gary Douglas Hammer · 2013 · Elsevier eBooks
  28. Brazilian Story of the R337H p53 Mutation
    Jana Šmardová, Jana Koptíková · 2014 · Klinicka onkologie
  29. Patched Domain-containing 4 (PTCH53) Identified in Li-Fraumeni Syndrome Patient-derived Cells
    Anna Pan · 2018 · TSpace (University of Toronto)
  30. how The Gynecologist Can Guide Women With A Family History Of Cancer
    Victor Evangelista de Faria Ferraz, Nathália Moreno Cury · 2014 · PubMed
  31. Identification of High risk nsSNPs in Human TP53 Gene Associated with Li–Fraumeni Syndrome: An In Silico Analysis Approach
    Mujahed I. Mustafa, Naseem S. Murshed, Mazen A. Elbasher, Abdelrafie Mohamed Makhawi · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  32. Inherited Pediatric Cancer in Low- and Intermediate-Resource Countries
    Maria Isabel Achatz, Patrícia Ashton‐Prolla, Hany Ariffin, Pierre L. Hainaut · 2021 · Springer eBooks
  33. Genetics of Familial Forms of Cortisol-Secreting Adrenal Tumors and Hyperplasias
    Ludivine Drougat, Constantine A. Stratakis · 2018 · Elsevier eBooks
  34. Cancer Surveillance for Patients with Li-Fraumeni Syndrome in Brazil is Cost-Effective
    Isadora A. Frankenthal, Mariana Cartaxo Alves, Casey R. Tak, Maria Isabel Achatz · 2021 · SSRN Electronic Journal
  35. Genetics of adrenal tumors
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  36. Importancia del diagnóstico y la vigilancia de pacientes con predisposición genética al cáncer: A propósito del gen TP53
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  38. Tumor Spectrum and Temporal Cancer Trends in adult carriers of Li-Fraumeni syndrome: Implications for Personalized Screening Strategies in TP53 R337H carriers
    Pedro 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
  39. Rapidly growing adrenal gland tumor in a female patient with a history of colon cancer
    Bojan 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
  40. Germline Genetic Variants in Cancer Predisposition Genes in Patients From Latin America and the Caribbean
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  41. Reconstructing the Origin and Demographic Expansion of the TP53 p.R337H Founder Variant in Brazil
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  42. Genetic Counseling for TP53 Germline Mutations
    Maria Isabel Achatz, Patrícia Ashton‐Prolla · 2012 · Springer eBooks
  43. Hereditary Conditions Associated with Adrenocortical Carcinoma, Pheochromocytoma, and Other Adrenal Tumors
    Samantha E. Greenberg, Catherine M Skefos, Jennie Vagher · 2026 · Endocrinology and Metabolism Clinics of North America
  44. Genetics of Familial Forms of Cortisol-Secreting Adrenal Tumors and Hyperplasias
    Ludivine Drougat, Constantine A. Stratakis · 2019 · Elsevier eBooks
  45. N-terminal isoforms of the p53 tumour suppressor protein : effects on p53 transcriptional activity and expression in cutaneous melanoma
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  46. Syndrome de Li-Fraumeni,Corticosurrénalomes et autres tumeurs pédiatriques
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  47. Patched as a new target for adrenocortical carcinoma treatment
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  48. Syndrοme de Li-Fraumeni : apprοches fοnctiοnnelles visant à appréhender la variabilité génοtypique et phénοtypique
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  51. Explainable Artificial Intelligence for Prediction of Li-Fraumeni Syndrome and TP53 p.R337H Founder Variant in Brazil
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  52. Hereditary Breast Cancer in a Brazilian Referral Cohort: Germline Diversity and Genotype–Phenotype Associations
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  53. Prevalence of the germline TP53 p.R337H mutation in families with multiple cases of cancer
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