Genetic and functional analysis of a Li Fraumeni syndrome family in China

Scientific Reports
Huaying HuJia-Da Li

Abstract

Li Fraumeni syndrome (LFS) is a rare familial cancer predisposition syndrome with autosomal-dominant inheritance, occurring as frequently as one in 5,000-20,000 individuals. However, no LFS case has been reported from mainland China although it constitutes one quarter of population on earth. In this study, we identified, to our best knowledge, the first Li Fraumeni syndrome family in China. Six family members were affected with various tumors. A TP53 mutation (c.730G > A; p.G244S) co-segregated with the tumor phenotype within this family. Functional analysis indicated that G244S mutation disrupted the transactivity, DNA-binding and cell growth inhibition activity of p53 protein. Two available tumor samples (medulloblastoma and choroid plexus papilloma) underwent large rearrangement in the chromosomes and loss of wild-type TP53. Our data warranted further studies on the prevalence of germline TP53 mutation in various tumor patients in China.

References

Oct 1, 1969·Annals of Internal Medicine·F P Li, J F Fraumeni
May 1, 1993·Nature Genetics·D DittmerA J Levine
Jun 23, 2000·British Journal of Cancer·A ChompretJ Feunteun
Jan 11, 2000·Nucleic Acids Research·S T SherryK Sirotkin
Apr 4, 2003·Lancet·Fiona LallooUNKNOWN Early Onset Breast Cancer Study Group
Nov 16, 2005·Nature Medicine·Anna A SablinaPeter M Chumakov
Apr 24, 2008·Nature Reviews. Molecular Cell Biology·Todd RileyArnold Levine
Aug 8, 2008·Proceedings of the National Academy of Sciences of the United States of America·Adam ShlienDavid Malkin
May 2, 2009·Nature·Douglas R Green, Guido Kroemer
May 5, 2009·Cell·Karen H Vousden, Carol Prives
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Oct 29, 2009·Proceedings of the National Academy of Sciences of the United States of America·Murim ChoiRichard P Lifton
Feb 20, 2010·Science·Shimin ZhaoKun-Liang Guan
Jun 3, 2010·Cold Spring Harbor Perspectives in Biology·Andreas C Joerger, Alan R Fersht
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Oct 29, 2010·Nature·Gonçalo R AbecasisGil A McVean
May 10, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Serena MasciariSapna Syngal
Jan 31, 2013·Nature Communications·Christopher D WassmanRommie E Amaro
Oct 15, 2014·Proceedings of the National Academy of Sciences of the United States of America·Hany AriffinChang S Chan
Jun 24, 2015·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Kim E Nichols, David Malkin

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Citations

Mar 7, 2020·Journal of Clinical Laboratory Analysis·Li HuShengwen Huang
Jun 22, 2018·Oncology Letters·Joanna Huszno, Ewa Grzybowska
Feb 3, 2019·Cold Spring Harbor Molecular Case Studies·Mahesh SwaminathanCourtney D DiNardo
Jan 8, 2021·Hereditary Cancer in Clinical Practice·Ofelia CruzCinzia Lavarino

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Methods Mentioned

BETA
biopsy
exome sequencing
immunoprecipitation
pulldown
transfection
PCR
Assay

Software Mentioned

Genome Analysis Toolkit ( GATK )
SAMtools
Burrows Aligner ( BWA
GraphPad
Prism
GATK IndelRealigner
ANNOVAR
GATK Unified Genotyper

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