Li-Fraumeni syndrome heterogeneity

被引：24
作者：
Gargallo, P. [1 ]
Yanez, Y. [2 ]
Segura, V. [2 ]
Juan, A. [1 ]
Torres, B. [1 ]
Balaguer, J. [1 ]
Oltra, S. [3 ,4 ]
Castel, V. [1 ]
Canete, A. [1 ]
机构：
[1] La Fe Hosp, Pediat Oncol, Av Fernando Abril Martorell 106, Valencia 46026, Spain
[2] La Fe Hosp, Clin & Translat Oncol Res Grp, Valencia, Spain
[3] La Fe Hosp, Genet Unit, Valencia, Spain
[4] Univ Valencia, Genet Dept, Valencia, Spain
来源：
CLINICAL & TRANSLATIONAL ONCOLOGY | 2020年 / 22卷 / 07期
关键词：
Li-Fraumeni syndrome; Genotype; Phenotype; Epigenome; Pediatrics; TP53 MUTATION CARRIERS; GAIN-OF-FUNCTION; CANCER PREDISPOSITION; MUTANT P53; RELATIVE FREQUENCY; TELOMERE LENGTH; WIDE SPECTRUM; TUMOR ONSET; GERMLINE; FAMILIES;
D O I：
10.1007/s12094-019-02236-2
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
Clinical variability is commonly seen in Li-Fraumeni syndrome. Phenotypic heterogeneity is present among different families affected by the same pathogenic variant in TP53 gene and among members of the same family. However, causes of this huge clinical spectrum have not been studied in depth. TP53 type mutation, polymorphic variants in TP53 gene or in TP53-related genes, copy number variations in particular regions, and/or epigenetic deregulation of TP53 expression might be responsible for clinical heterogeneity. In this review, recent advances in the understanding of genetic and epigenetic aspects influencing Li-Fraumeni phenotype are discussed.
引用
收藏
页码：978 / 988
页数：11
相关论文
共 105 条
  • [1] Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome
    Amadou, Amina
    Achatz, Maria I. Waddington
    Hainaut, Pierre
    [J]. CURRENT OPINION IN ONCOLOGY, 2018, 30 (01) : 23 - 29
  • [2] TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes
    Andrade, Raissa Coelho
    Evangelista dos Santos, Anna Claudia
    de Aguirre Neto, Joaquim Caetano
    Nevado, Julian
    Lapunzina, Pablo
    Vargas, Fernando Regla
    [J]. FAMILIAL CANCER, 2017, 16 (02) : 243 - 248
  • [3] Germline TP53 mutational spectrum in French Canadians with breast cancer
    Arcand, Suzanna L.
    Akbari, Mohammed R.
    Mes-Masson, Anne-Marie
    Provencher, Diane
    Foulkes, William D.
    Narod, Steven A.
    Tonin, Patricia N.
    [J]. BMC Medical Genetics, 2015, 16
  • [4] Frequent occurrence of gastric cancer in Asian kindreds with Li-Fraumeni syndrome
    Ariffin, H.
    Chan, A. S. L.
    Oh, L.
    Abd-Ghafar, S.
    Ong, G. B.
    Mohamed, M.
    Razali, H.
    Juraida, E.
    Teo, S. H.
    Karsa, M.
    Shamsani, J.
    Hainaut, P.
    [J]. CLINICAL GENETICS, 2015, 88 (05) : 450 - 455
  • [5] Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li-Fraumeni cancer predisposition syndrome
    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.
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2014, 111 (43) : 15497 - 15501
  • [6] Tumor-Suppressor Functions of the TP53 Pathway
    Aubrey, Brandon J.
    Strasser, Andreas
    Kelly, Gemma L.
    [J]. COLD SPRING HARBOR PERSPECTIVES IN MEDICINE, 2016, 6 (05):
  • [7] Barlow JW, 2004, CANCER EPIDEM BIOMAR, V13, P1403
  • [8] Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome
    Basso, Tatiane R.
    Villacis, Rolando A. R.
    Canto, Luisa M.
    Alves, Vinicius M. F.
    Lapa, Rainer M. L.
    Nobrega, Amanda F.
    Achatz, Maria I.
    Rogatto, Silvia R.
    [J]. CANCER GENETICS, 2015, 208 (06) : 341 - 344
  • [9] Telomere shortening is associated with malformation in p53-deficient mice after irradiation during specific stages of development
    Bekaert, S
    Derradji, H
    De Meyer, T
    Michaux, A
    Buset, J
    Neefs, M
    Mergeay, M
    Jacquet, P
    Van Oostveldt, P
    Baatout, S
    [J]. DNA REPAIR, 2005, 4 (09) : 1028 - 1037
  • [10] Relative frequency and morphology of cancers in carriers of germline TP53 mutations
    Birch, JM
    Alston, RD
    McNally, RJQ
    Evans, DGR
    Kelsey, AM
    Harris, M
    Eden, OB
    Varley, JM
    [J]. ONCOGENE, 2001, 20 (34) : 4621 - 4628
12345678910