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 (reprint author), NCI, Div Canc Epidemiol & Genet, NIH, HHS, 9609 Med Ctr Dr,Rm 6E514,MSC 9772, Rockville, MD 20850 USA.

HUMAN MUTATION, 2019; 40 (1): 97

Abstract

Reports of variable cancer penetrance in Li-Fraumeni syndrome (LFS) have raised questions regarding the prevalence of pathogenic germline TP53 variant......

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索