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.

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 en En | MEDLINE | ID: mdl-34198491

Asunto(s)

Neoplasias de la Mama/genética; Estudios de Asociación Genética; Predisposición Genética a la Enfermedad; Síndrome de Li-Fraumeni/genética; Mutación Missense/genética; Proteína p53 Supresora de Tumor/química; Proteína p53 Supresora de Tumor/genética; Secuencia de Aminoácidos; Femenino; Mutación de Línea Germinal/genética; Humanos; Modelos Logísticos; Análisis Multivariante; Fenotipo; Conformación Proteica

Palabras clave

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

Texto completo

Imprimir

XML

PubMed Links

Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Neoplasias de la Mama / Proteína p53 Supresora de Tumor / Síndrome de Li-Fraumeni / Predisposición Genética a la Enfermedad / Mutación Missense / Estudios de Asociación Genética Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Año: 2021 Tipo del documento: Article

Texto completo

Imprimir

XML

PubMed Links

Search on Google