The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome.

Macaulay, Shelley; Goodyear, Quintin Clive; Kruger, Mia; Chen, Wenlong; Essop, Fahmida; Krause, Amanda

Macaulay, Shelley; Goodyear, Quintin Clive; Kruger, Mia; Chen, Wenlong; Essop, Fahmida; Krause, Amanda.

Afiliação

Macaulay S; Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. shelley.macaulay@nhls.ac.za.
Goodyear QC; Division of Human Genetics, The National Health Laboratory Service, Johannesburg, South Africa. shelley.macaulay@nhls.ac.za.
Kruger M; Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Chen W; Division of Human Genetics, The National Health Laboratory Service, Johannesburg, South Africa.
Essop F; Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Krause A; Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

Fam Cancer ; 17(4): 607-613, 2018 10.

Article em En | MEDLINE | ID: mdl-29392648

Assuntos

Mutação em Linhagem Germinativa; Síndrome de Li-Fraumeni/genética; Proteína Supressora de Tumor p53/genética; África Subsaariana; Feminino; Humanos; Masculino; Linhagem

Palavras-chave

Cancer syndrome; Li-Fraumeni syndrome; Sub-Saharan Africa; TP53 gene

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Female / Humans / Male País/Região como assunto: Africa Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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