Concern regarding classification of germline TP53 variants as likely pathogenic

D Gareth Evans^{1

2}, Clare Turnbull^{3

4}, Emma R Woodward^{1

2}

Affiliations

¹ Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.
² Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Health Innovation Manchester, Manchester, United Kingdom.
³ Division of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom.
⁴ Department of Cancer Genetics, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.

Comment

D Gareth Evans et al. Hum Mutat. 2019 Jun.

. 2019 Jun;40(6):828-831.

doi: 10.1002/humu.23750. Epub 2019 Apr 24.

D Gareth Evans^{1

2}, Clare Turnbull^{3

4}, Emma R Woodward^{1

2}

¹ Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.
² Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Health Innovation Manchester, Manchester, United Kingdom.
³ Division of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom.
⁴ Department of Cancer Genetics, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.

No abstract available

Comment in

Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic.
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 Jun;40(6):832-833. doi: 10.1002/humu.23749. Epub 2019 Apr 18. Hum Mutat. 2019. PMID: 30997946 No abstract available.

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.