Association between Predicted Effects of <i>TP53</i> Missense Variants on Protein Conformation and Their Phenotypic Presentation as Li-Fraumeni Syndrome or Hereditary Breast Cancer.

Liu, Yaxuan; Axell, Olga; van Leeuwen, Tom; Konrat, Robert; Kharaziha, Pedram; Larsson, Catharina; Wright, Anthony P H; Bajalica-Lagercrantz, Svetlana

Association between Predicted Effects of TP53 Missense Variants on Protein Conformation and Their Phenotypic Presentation as Li-Fraumeni Syndrome or Hereditary Breast Cancer.

Liu, Yaxuan; Axell, Olga; van Leeuwen, Tom; Konrat, Robert; Kharaziha, Pedram; Larsson, Catharina; Wright, Anthony P H; Bajalica-Lagercrantz, Svetlana.

Afiliação

Liu Y; Department of Oncology-Pathology, Karolinska Institutet, Bioclinicum, Karolinska University Hospital, 17164 Stockholm, Sweden.
Axell O; Department of Oncology-Pathology, Karolinska Institutet, Bioclinicum, Karolinska University Hospital, 17164 Stockholm, Sweden.
van Leeuwen T; Department of Laboratory Medicine, Division of Biomolecular and Cellular Medicine, Karolinska Institutet, 17177 Stockholm, Sweden.
Konrat R; Christian Doppler Laboratory for High-Content Structural Biology and Biotechnology, Department of Structural and Computational Biology, Max F. Perutz Laboratories, University of Vienna, 1030 Vienna, Austria.
Kharaziha P; Department of Oncology-Pathology, Karolinska Institutet, Bioclinicum, Karolinska University Hospital, 17164 Stockholm, Sweden.
Larsson C; Department of Oncology-Pathology, Karolinska Institutet, Bioclinicum, Karolinska University Hospital, 17164 Stockholm, Sweden.
Wright APH; Department of Laboratory Medicine, Division of Biomolecular and Cellular Medicine, Karolinska Institutet, 17177 Stockholm, Sweden.
Bajalica-Lagercrantz S; Department of Oncology-Pathology, Karolinska Institutet, Bioclinicum, Karolinska University Hospital, 17164 Stockholm, Sweden.

Int J Mol Sci ; 22(12)2021 Jun 14.

Article em En | MEDLINE | ID: mdl-34198491

Assuntos

Neoplasias da Mama/genética; Estudos de Associação Genética; Predisposição Genética para Doença; Síndrome de Li-Fraumeni/genética; Mutação de Sentido Incorreto/genética; Proteína Supressora de Tumor p53/química; Proteína Supressora de Tumor p53/genética; Sequência de Aminoácidos; Feminino; Mutação em Linhagem Germinativa/genética; Humanos; Modelos Logísticos; Análise Multivariada; Fenótipo; Conformação Proteica

Palavras-chave

Li-Fraumeni syndrome; germline TP53 missense variants; hereditary breast cancer; protein conformation; quantitative prediction model

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias da Mama / Proteína Supressora de Tumor p53 / Síndrome de Li-Fraumeni / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Estudos de Associação Genética Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Suécia

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