Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome

被引：46

作者：

Bougeard, G

Limacher, JM

Martin, C

Charbonnier, F

Killian, A

Delattre, O

Longy, M

Jonveaux, P

Fricker, JP

Stoppa-Lyonnet, D

Flaman, JM

Frébourg, T

机构：

[1] Fac Med & Pharm, INSERM, F-76183 Rouen, France

[2] IFRMP, F-76821 Mont St Aignan, France

[3] Hop Univ, F-67091 Strasbourg, France

[4] Inst Curie, Serv Genet Oncol, F-75248 Paris, France

[5] Inst Bergonie, F-33076 Bordeaux, France

[6] CHU Nancy, Hop Brabois, Genet Lab, F-54511 Vandoeuvre Les Nancy, France

[7] Ctr Paul Strauss, F-67085 Strasbourg, France

来源：

JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 04期

关键词：

D O I：

10.1136/jmg.38.4.253

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：253 / 256

页数：4

共 24 条

[1] Cloning and chromosomal mapping of the human p53-related KET gene to Chromosome 3q27 and its murine homolog Ket to mouse Chromosome 16
Augustin, M
Bamberger, C
Paul, D
Schmale, H
[J]. MAMMALIAN GENOME, 1998, 9 (11) : 899 - 902
[2] Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome
Bell, DW
Varley, JM
Szydlo, TE
Kang, DH
Wahrer, DCR
Shannon, KE
Lubratovich, M
Verselis, SJ
Isselbacher, KJ
Fraumeni, JF
Birch, JM
Li, FP
Garber, JE
Haber, DA
[J]. SCIENCE, 1999, 286 (5449) : 2528 - 2531
[3] BIRCH JM, 1994, CANCER RES, V54, P1298
[4] Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
Celli, J
Duijf, P
Hamel, BCJ
Bamshad, M
Kramer, B
Smits, APT
Newbury-Ecob, R
Hennekam, RCM
Van Buggenhout, G
van Haeringen, B
Woods, CG
van Essen, AJ
de Waal, R
Vriend, G
Haber, DA
Yang, A
McKeon, F
Brunner, HG
van Bokhoven, H
[J]. CELL, 1999, 99 (02) : 143 - 153
[5] Mammalian Chk2 is a downstream effector of the ATM-dependent DNA damage checkpoint pathway
Chaturvedi, P
Eng, WK
Zhu, Y
Mattern, MR
Mishra, R
Hurle, MR
Zhang, XL
Annan, RS
Lu, Q
Faucette, LF
Scott, GF
Li, XT
Carr, SA
Johnson, RK
Winkler, JD
Zhou, BBS
[J]. ONCOGENE, 1999, 18 (28) : 4047 - 4054
[6] Chehab NH, 2000, GENE DEV, V14, P278
[7] Eeles RA, 1995, CANCER SURV, V25, P101
[8] Identification of human p53 mutations with differential effects on the bax and p21 promoters using functional assays in yeast
Flaman, JM
Robert, V
Lenglet, S
Moreau, V
Iggo, R
Frebourg, T
[J]. ONCOGENE, 1998, 16 (10) : 1369 - 1372
[9] A SIMPLE P53 FUNCTIONAL ASSAY FOR SCREENING CELL-LINES, BLOOD, AND TUMORS
FLAMAN, JM
FREBOURG, T
MOREAU, V
CHARBONNIER, F
MARTIN, C
CHAPPUIS, P
SAPPINO, AP
LIMACHER, JM
BRON, L
BENHATTAR, J
TADA, M
VAN MEIR, EG
ESTREICHER, A
IGGO, RD
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (09) : 3963 - 3967
[10] A RAPID PCR FIDELITY ASSAY
FLAMAN, JM
FREBOURG, T
MOREAU, V
CHARBONNIER, F
MARTIN, C
ISHIOKA, C
FRIEND, SH
IGGO, R
[J]. NUCLEIC ACIDS RESEARCH, 1994, 22 (15) : 3259 - 3260

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