AN EXTENDED LI-FRAUMENI KINDRED WITH GASTRIC-CARCINOMA AND A CODON-175 MUTATION IN TP53

被引：58

作者：

VARLEY, JM

MCGOWN, G

THORNCROFT, M

TRICKER, KJ

TEARE, MD

SANTIBANEZKOREF, MF

HOULSTON, RS

MARTIN, J

BIRCH, JM

EVANS, DGR

机构：

[1] PATERSON INST CANC RES, CRC, DEPT CANC GENET, MANCHESTER M20 9BX, LANCS, ENGLAND

[2] UNIV S MANCHESTER HOSP, CRC, PAEDIAT & FAMILIAL CANC RES GRP, MANCHESTER M20 9BX, LANCS, ENGLAND

[3] INST CANC RES, SUTTON SM2 5NG, SURREY, ENGLAND

[4] ROYAL LIVERPOOL CHILDRENS HOSP, ONCOL UNIT, LIVERPOOL L12 2AP, MERSEYSIDE, ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 12期

关键词：

D O I：

10.1136/jmg.32.12.942

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present an extended family with Li-Fraumeni syndrome characterised by gastric and breast carcinoma, glioma, sarcoma, and leukaemia. This family showed strong evidence of linkage to TP53, and three of four tumours analysed showed loss of the wild type allele. A codon 175 missense mutation was identified in exon 5 in all available affected subjects. Counselling, screening, and issues surrounding presymptomatic testing are discussed.

引用

收藏

页码：942 / 945

页数：4

相关论文

共 30 条

[21] HEREDITARY FACTORS IN CANCER - STUDY OF 2 LARGE MIDWESTERN KINDREDS [J].

LYNCH, HT ;

SHAW, MW ;

MAGNUSON, CW ;

LARSEN, AL ;

KRUSH, AJ .

ARCHIVES OF INTERNAL MEDICINE, 1966, 117 (02) :206-&

[22]

LYNCH HT, 1988, GASTROENTEROL CLIN N, V17, P679

[23] GERM LINE P53 MUTATIONS IN A FAMILIAL SYNDROME OF BREAST-CANCER, SARCOMAS, AND OTHER NEOPLASMS [J].

MALKIN, D ;

LI, FP ;

STRONG, LC ;

FRAUMENI, JF ;

NELSON, CE ;

KIM, DH ;

KASSEL, J ;

GRYKA, MA ;

BISCHOFF, FZ ;

TAINSKY, MA ;

FRIEND, SH .

SCIENCE, 1990, 250 (4985) :1233-1238

[24]

MALKIN D, 1994, S GENETIC PREDISPOSI, P24025

[25] 2 FAMILIES WITH THE LI-FRAUMENI CANCER FAMILY SYNDROME [J].

PEARSON, ADJ ;

CRAFT, AW ;

RATCLIFFE, JM ;

BIRCH, JM ;

MORRISJONES, P ;

ROBERTS, DF .

JOURNAL OF MEDICAL GENETICS, 1982, 19 (05) :362-365

[26]

ROHDE K, IN PRESS HUM HERED

[27] P53 GERMLINE MUTATIONS IN LI-FRAUMENI SYNDROME [J].

SANTIBANEZKOREF, MF ;

BIRCH, JM ;

HARTLEY, AL ;

JONES, PHM ;

CRAFT, AW ;

EDEN, T ;

CROWTHER, D ;

KELSEY, AM ;

HARRIS, M .

LANCET, 1991, 338 (8781) :1490-1491

[28] THE USE OF LOSS OF CONSTITUTIONAL HETEROZYGOSITY DATA TO ASCERTAIN THE LOCATION OF PREDISPOSING GENES IN CANCER FAMILIES [J].

TEARE, MD ;

ROHDE, K ;

KOREF, MFS .

JOURNAL OF MEDICAL GENETICS, 1994, 31 (06) :448-452

[29] PREVALENCE AND SPECTRUM OF GERMLINE MUTATIONS OF THE P53 GENE AMONG PATIENTS WITH SARCOMA [J].

TOGUCHIDA, J ;

YAMAGUCHI, T ;

DAYTON, SH ;

BEAUCHAMP, RL ;

HERRERA, GE ;

ISHIZAKI, K ;

YAMAMURO, T ;

MEYERS, PA ;

LITTLE, JB ;

SASAKI, MS ;

WEICHSELBAUM, RR ;

YANDELL, DW .

NEW ENGLAND JOURNAL OF MEDICINE, 1992, 326 (20) :1301-1308

[30] ETHICAL ISSUES POLICY STATEMENT ON HUNTINGTONS-DISEASE MOLECULAR-GENETICS PREDICTIVE TEST [J].

WENT, L .

JOURNAL OF MEDICAL GENETICS, 1990, 27 (01) :34-38