Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family-Reference-Cited by-同舟云学术

Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family

Published:2018-12 Issue:1 Volume:3 Page:
ISSN:2056-7944
Container-title:npj Genomic Medicine
language:en
Short-container-title:npj Genomic Med

Author:

AlHarbi Musa,Mubarak Nahla,AlMubarak Latifa,Aljelaify Rasha,AlSaeed Mariam,Almutairi Amal,AlJabarat Weal,Alqubaishi Fatimah,Al-Subaie Lamia,AlTassan Nada^ORCID,Neben Cynthia L.,Zhou Alicia Y.,Abedalthagafi Malak

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://www.nature.com/articles/s41525-018-0074-3.pdf

Reference42 articles.

1. Malkin, D. Li-fraumeni syndrome. Genes Cancer 2, 475–484 (2011).

2. Chompret, A. et al. Sensitivity and predictive value of criteria for p53 germline mutation screening. J. Med. Genet. 38, 43–47 (2001).

3. Tinat, J. et al. 2009 version of the Chompret criteria for Li Fraumeni syndrome. J. Clin. Oncol. 27, e108–9 (2009). author replye110.

4. Leroy, B., Anderson, M. & Soussi, T. TP53 mutations in human cancer: database reassessment and prospects for the next decade. Hum. Mutat. 35, 672–688 (2014).

5. Kamihara, J., Rana, H. Q. & Garber, J. E. Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome. Hum. Mutat. 35, 654–662 (2014).

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Molecular insights into TP53 mutation (p. Arg267Trp) and its connection to Choroid Plexus Carcinomas and Li-Fraumeni Syndrome;Genes & Genomics;2024-06-19

2. Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent;Familial Cancer;2024-05-14

3. Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel;Oncotarget;2023-06-12

4. Germline mutations of p53 tumor gene linked to Li-Fraumeni syndrome (LFS) are associated with an increased risk of cancer;2022-11-18

5. New Insights into Melanoma Tumor Syndromes;JID Innovations;2022-11