Journal article

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

Cristina Fortuno, Kristy Lee, Magali Olivier, Tina Pesaran, Phuong L Mai, Kelvin C de Andrade, Laura D Attardi, Stephanie Crowley, D Gareth Evans, Bing-Jian Feng, Ann KM Foreman, Megan N Frone, Robert Huether, Paul A James, Kelly McGoldrick, Jessica Mester, Bryce A Seifert, Thomas P Slavin, Leora Witkowski, Liying Zhang Show all

Human Mutation | WILEY | Published : 2020


Germline pathogenic variants in TP53 are associated with Li-Fraumeni syndrome, a cancer predisposition disorder inherited in an autosomal dominant pattern associated with a high risk of malignancy, including early-onset breast cancers, sarcomas, adrenocortical carcinomas, and brain tumors. Intense cancer surveillance for individuals with TP53 germline pathogenic variants is associated with reduced cancer-related mortality. Accurate and consistent classification of germline variants across clinical and research laboratories is important to ensure appropriate cancer surveillance recommendations. Here, we describe the work performed by the Clinical Genome Resource TP53 Variant Curation Expert P..

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Awarded by National Human Genome Research & National Cancer Institutes

Awarded by NIHR Manchester Biomedical Research Centre

Awarded by National Cancer Institute

Awarded by Australian National Health and Medical Research

Funding Acknowledgements

Intramural Research Program, Division of Cancer Epidemiology and Genetics, NCI; National Human Genome Research & National Cancer Institutes, Grant/Award Numbers: 1U41HG006834, 1U01HG007437, 1U01HG007436, HHSN2612; NIHR Manchester Biomedical Research Centre, Grant/Award Number: IS-BRC-1215-20007; UQ School of Medicine; National Cancer Institute, Grant/Award Number: K08CA234394 and R01CA242218; Australian National Health and Medical Research, Grant/Award Numbers: ID1061779, ID1161589