Detection of the first complete heterozygous deletion of the TP53 gene in a family with Li-Fraumeni syndrome.

被引：0
|
作者：
Bougeard, G
Charbonnier, F
Martin, C
Raux, G
Brugieres, L
de Paillerets, BB
Frebourg, T
机构：
[1] INSERM, EMI 9906, Fac Med, Rouen, France
[2] CHU Rouen, Dept Genet, F-76031 Rouen, France
[3] Inst Gustave Roussy, Dept Pediat, F-94805 Villejuif, France
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2002年 / 71卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
351
引用
收藏
页码：232 / 232
页数：1
相关论文
共 50 条
  • [1] Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene
    Bougeard, G
    Brugières, L
    Chompret, A
    Gesta, P
    Charbonnier, F
    Valent, A
    Martin, C
    Raux, G
    Feunteun, J
    Bressac-de Paillerets, B
    Frébourg, T
    ONCOGENE, 2003, 22 (06) : 840 - 846
  • [2] A new germline TP53 gene mutation in a family with Li-Fraumeni syndrome
    DockhornDwomiczak, B
    Wolff, J
    Poremba, C
    Schafer, KL
    Ritter, J
    Gullotta, F
    Jurgens, H
    Bocker, W
    EUROPEAN JOURNAL OF CANCER, 1996, 32A (08) : 1359 - 1365
  • [3] TP53 MUTATIONS AND LI-FRAUMENI SYNDROME
    Hainaut, P.
    PEDIATRIC BLOOD & CANCER, 2009, 53 (05) : 703 - 703
  • [4] Screening for TP53 rearrangements in families with the Li–Fraumeni syndrome reveals a complete deletion of the TP53 gene
    Gaëlle Bougeard
    Laurence Brugières
    Agnès Chompret
    Paul Gesta
    Françoise Charbonnier
    Alexander Valent
    Cosette Martin
    Grégory Raux
    Jean Feunteun
    Brigitte Bressac-de Paillerets
    Thierry Frébourg
    Oncogene, 2003, 22 : 840 - 846
  • [5] A Novel Variant in the TP53 Gene Causing Li-Fraumeni Syndrome
    Papadimitriou, Dimitrios T.
    Stratakis, Constantine A.
    Kattamis, Antonis
    Glentis, Stavros
    Dimitrakakis, Constantine
    Spyridis, George P.
    Christopoulos, Panagiotis
    Mastorakos, George
    Vlahos, Nikolaos F.
    Iacovidou, Nicoletta
    CHILDREN-BASEL, 2023, 10 (07):
  • [6] Inherited TP53 Mutations and the Li-Fraumeni Syndrome
    Guha, Tanya
    Malkin, David
    COLD SPRING HARBOR PERSPECTIVES IN MEDICINE, 2017, 7 (04):
  • [7] Germline TP53 mutations and Li-Fraumeni syndrome
    Varley, JM
    HUMAN MUTATION, 2003, 21 (03) : 313 - 320
  • [8] Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome.: Genetic counselling to healthy mutation
    Balmaña, J
    Nomdedéu, J
    Díez, O
    Sabaté, JM
    Balil, A
    Pericay, C
    López, JJL
    Brunet, J
    Baiget, M
    Alonso, C
    MEDICINA CLINICA, 2002, 119 (13): : 497 - 499
  • [9] Two TP53 germline mutations in a classical Li-Fraumeni syndrome family
    van Hest, Liselotte P.
    Ruijs, Marielle W. G.
    Wagner, Anja
    van der Meer, Conny A.
    Verhoef, Senno
    van't Veer, Laura J.
    Meijers-Heijboer, Hanne
    FAMILIAL CANCER, 2007, 6 (03) : 311 - 316
  • [10] Two TP53 germline mutations in a classical Li-Fraumeni syndrome family
    Liselotte P. van Hest
    Mariëlle W. G. Ruijs
    Anja Wagner
    Conny A. van der Meer
    Senno Verhoef
    Laura J. van‘t Veer
    Hanne Meijers-Heijboer
    Familial Cancer, 2007, 6 : 311 - 316
12345