Article
Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li-Fraumeni cancer predisposition syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 28 Oct 2014
Ariffin Hany, Hainaut Pierre, Puzio-Kuter Anna, Choong Soo Sin, Chan Adelyne Sue Li, Tolkunov Denis, Rajagopal Gunaretnam, Kang Wenfeng, Lim Leon Li Wen, Krishnan Shekhar, Chen Kok-Siong, Achatz Maria Isabel, Karsa Mawar, Shamsani Jannah, Levine Arnold J, Chan Chang S
Abstract excerpt
The Li-Fraumeni syndrome (LFS) and its variant form (LFL) is a familial predisposition to multiple forms of childhood, adolescent, and adult cancers associated with germ-line mutation in the TP53 tumor suppressor gene. Individual disparities in tumor patterns are compounded by acceleration of cancer onset with successive generations. It has been suggested that this apparent anticipation pattern may result from...
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