Author:
Kai Masaya,Kubo Makoto,Shikada Sawako,Hayashi Saori,Morisaki Takafumi,Yamada Mai,Takao Yuka,Shimazaki Akiko,Harada Yurina,Kaneshiro Kazuhisa,Mizuuchi Yusuke,Shindo Koji,Nakamura Masafumi
Abstract
AbstractTP53 is a tumor suppressor gene and, when dysfunctional, it is known to be involved in the development of cancers. Li–Fraumeni syndrome (LFS) is a hereditary tumor with autosomal dominant inheritance that develops in people with germline pathogenic variants of TP53. LFS frequently develops in parallel to tumors, including breast cancer. We describe a novel germline mutation in TP53 identified by performing a multi-gene panel assay in a breast cancer patient with bilateral breast cancer.
Publisher
Springer Science and Business Media LLC
Subject
Industrial and Manufacturing Engineering,General Business, Management and Accounting,Materials Science (miscellaneous),Business and International Management
Reference22 articles.
1. Correa H. Li-Fraumeni Syndrome. J Pediatr Genet. 2016;5:84–8.
2. Brázdová M, Paleček J, Cherny DI, Billová S, Fojta M, Pečinka P, et al. Role of tumor suppressor p53 domains in selective binding to supercoiled DNA. Nucleic Acids Res. 2002;30:4966–74.
3. Surget S, Khoury MP, Bourdon JC. Uncovering the role of p53 splice variants in human malignancy: a clinical perspective. Onco Targets Ther. 2013;7:57–67.
4. Malkin D, Li FP, Strong LC, Fraumeni JF, Nelson CE, Kim DH, et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science (80−). 1990;250:1233–8.
5. Mai PL, Best AF, Peters JA, DeCastro RM, Khincha PP, Loud JT, et al. Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. Cancer. 2016;122:3673–81.
Cited by
1 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