Functional evaluation of germline TP53 variants identified in Brazilian families at-risk for Li–Fraumeni syndrome-Reference-Cited by-同舟云学术

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Functional evaluation of germline TP53 variants identified in Brazilian families at-risk for Li–Fraumeni syndrome

Published:2024-07-26 Issue:1 Volume:14 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Abreu Renata B. V.,Pereira Ariane S.,Rosa Marcela N.,Ashton-Prolla Patricia,Silva Viviane A. O.,Melendez Matias E.,Palmero Edenir I.

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Fundação de Amparo à Pesquisa do Estado de São Paulo

Ministério da Saúde

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41598-024-67810-3.pdf

Reference51 articles.

1. Malkin, D. et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250, 1233–1238. https://doi.org/10.1126/science.1978757 (1990).

2. Amadou, A., Achatz, M. I. W. & Hainaut, P. Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: Temporal phases of Li–Fraumeni syndrome. Curr. Opin. Oncol. 30, 23–29. https://doi.org/10.1097/CCO.0000000000000423 (2018).

3. Fortuno, C. et al. Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing. Cancer Genet. 248–249, 11–17. https://doi.org/10.1016/j.cancergen.2020.09.002 (2020).

4. Mai, P. L. et al. Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li–Fraumeni syndrome cohort. Cancer 122, 3673–3681. https://doi.org/10.1002/cncr.30248 (2016).

5. Schneider, K., Zelley, K., Nichols, K. E. & Garber (1993) J. in GeneReviews (R) (eds.) M. P. Adam et al.

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