Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic

Affiliations

¹ Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
² Division of Research, National Cancer Institute, Mexico City, Mexico.
³ Department of Prevention and Therapy of Chronic Diseases, Team Tumor Molecular Pathology and Biomarkers, Institute for Advanced Biosciences, Inserm U 1209, UMR 5309 Université Grenoble Alpes, Site Santé, Allée des Alpes, 38700, La Tronche, France.
⁴ Department of Oncogenetics, International Research Center, A.C. Camargo Cancer Center, São Paulo, Brazil.
⁵ Head and Neck Surgery and Otorhinolaryngology Department, A.C. Camargo Cancer Center, São Paulo, Brazil.
⁶ Oncogenetics Unit, Oncology Center, Sírio-Libanês Hospital, São Paulo, Brazil.

Comment

Kelvin C de Andrade et al. Hum Mutat. 2019 Jun.

. 2019 Jun;40(6):832-833.

doi: 10.1002/humu.23749. Epub 2019 Apr 18.

¹ Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
² Division of Research, National Cancer Institute, Mexico City, Mexico.
³ Department of Prevention and Therapy of Chronic Diseases, Team Tumor Molecular Pathology and Biomarkers, Institute for Advanced Biosciences, Inserm U 1209, UMR 5309 Université Grenoble Alpes, Site Santé, Allée des Alpes, 38700, La Tronche, France.
⁴ Department of Oncogenetics, International Research Center, A.C. Camargo Cancer Center, São Paulo, Brazil.
⁵ Head and Neck Surgery and Otorhinolaryngology Department, A.C. Camargo Cancer Center, São Paulo, Brazil.
⁶ Oncogenetics Unit, Oncology Center, Sírio-Libanês Hospital, São Paulo, Brazil.

No abstract available

Keywords: Li-Fraumeni syndrome; TP53; gnomAD; prevalence; variant classification.

Comment on

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
de Andrade KC, Frone MN, Wegman-Ostrosky T, Khincha PP, Kim J, Amadou A, Santiago KM, Fortes FP, Lemonnier N, Mirabello L, Stewart DR, Hainaut P, Kowalski LP, Savage SA, Achatz MI. de Andrade KC, et al. Hum Mutat. 2019 Jan;40(1):97-105. doi: 10.1002/humu.23673. Epub 2018 Nov 19. Hum Mutat. 2019. PMID: 30352134 Free PMC article.
Concern regarding classification of germline TP53 variants as likely pathogenic.
Evans DG, Turnbull C, Woodward ER. Evans DG, et al. Hum Mutat. 2019 Jun;40(6):828-831. doi: 10.1002/humu.23750. Epub 2019 Apr 24. Hum Mutat. 2019. PMID: 31016814 No abstract available.