Article
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Human mutation - 1 Mar 2021
Fortuno Cristina, Lee Kristy, Olivier Magali, Pesaran Tina, Mai Phuong L, de Andrade Kelvin C, Attardi Laura D, Crowley Stephanie, Evans D Gareth, Feng Bing-Jian, Foreman Ann K M, Frone Megan N, Huether Robert, James Paul A, McGoldrick Kelly, Mester Jessica, Seifert Bryce A, Slavin Thomas P, Witkowski Leora, Zhang Liying, Plon Sharon E, Spurdle Amanda B, Savage Sharon A
Abstract excerpt
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...
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