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

页码：978 / 988

页数：11

共 105 条

[11] p53 from complexity to simplicity: mutant p53 stabilization, gain-of-function, and dominant-negative effect
Blagosklonny, MV
[J]. FASEB JOURNAL, 2000, 14 (13) : 1901 - 1907
[12] Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome
Bougeard, G.
Baert-Desurmont, S.
Tournier, I.
Vasseur, S.
Martin, C.
Brugieres, L.
Chompret, A.
Bressac-de Paillerets, B.
Stoppa-Lyonnet, D.
Bonaiti-Pellie, C.
Frebourg, T.
[J]. JOURNAL OF MEDICAL GENETICS, 2006, 43 (06) : 531 - 533
[13] Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers
Bougeard, Gaelle
Renaux-Petel, Mariette
Flaman, Jean-Michel
Charbonnier, Camille
Fermey, Pierre
Belotti, Muriel
Gauthier-Villars, Marion
Stoppa-Lyonnet, Dominique
Consolino, Emilie
Brugieres, Laurence
Caron, Olivier
Benusiglio, Patrick R.
Bressac-de Paillerets, Brigitte
Bonadona, Valerie
Bonaiti-Pellie, Catherine
Tinat, Julie
Baert-Desurmont, Stephanie
Frebourg, Thierry
[J]. JOURNAL OF CLINICAL ONCOLOGY, 2015, 33 (21) : 2345 - U33
[14] Generation or birth cohort effect on cancer risk in Li-Fraumeni syndrome
Brown, BW
Costello, TJ
Hwang, SJ
Strong, LC
[J]. HUMAN GENETICS, 2005, 118 (3-4) : 489 - 498
[15] Identification of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing
Brown, LTR
Sexsmith, E
Malkin, D
[J]. CANCER GENETICS AND CYTOGENETICS, 2000, 123 (01) : 65 - 68
[16] The wide spectrum of POT1 gene variants correlates with multiple cancer types
Calvete, Oriol
Garcia-Pavia, Pablo
Dominguez, Fernando
Bougeard, Gaelle
Kunze, Kristin
Braeuninger, Andreas
Teule, Alex
Lasa, Adriana
Ramon y Cajal, Teresa
Llort, Gemma
Fernandez, Victoria
Lazaro, Conxi
Urioste, Miguel
Benitez, Javier
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2017, 25 (11) : 1278 - 1281
[17] A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families
Calvete, Oriol
Martinez, Paula
Garcia-Pavia, Pablo
Benitez-Buelga, Carlos
Paumard-Hernandez, Beatriz
Fernandez, Victoria
Dominguez, Fernando
Salas, Clara
Romero-Laorden, Nuria
Garcia-Donas, Jesus
Carrillo, Jaime
Perona, Rosario
Carlos Trivino, Juan
Andres, Raquel
Maria Cano, Juana
Rivera, Barbara
Alonso-Pulpon, Luis
Setien, Fernando
Esteller, Manel
Rodriguez-Perales, Sandra
Bougeard, Gaelle
Frebourg, Tierry
Urioste, Miguel
Blasco, Maria A.
Benitez, Javier
[J]. NATURE COMMUNICATIONS, 2015, 6
[18] Identification and characterization of two novel germ line p53 mutations in the non-LFS/non-LFL breast cancer families in Chinese population
Cao, A-Yong
Jin, Wei
Shi, Peng-Cheng
Di, Gen-hong
Shen, Zhen-Zhou
Shao, Zhi-Ming
[J]. BREAST CANCER RESEARCH AND TREATMENT, 2010, 119 (02) : 295 - 303
[19] Whole Exome Sequencing of Pediatric Gastric Adenocarcinoma Reveals an Atypical Presentation of Li-Fraumeni Syndrome
Chang, Vivian Y.
Federman, Noah
Martinez-Agosto, Julian
Tatishchev, Sergei F.
Nelson, Stanley F.
[J]. PEDIATRIC BLOOD & CANCER, 2013, 60 (04) : 570 - 574
[20] The role of p53 in glucose metabolism
Cheung, Eric C.
Vousden, Karen H.
[J]. CURRENT OPINION IN CELL BIOLOGY, 2010, 22 (02) : 186 - 191

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