Three germline mutations in the TP53 gene

Human Mutation

Volumn 9, Issue 2, 1997, Pages 157-163

  Cornelis, R S ^a   Van Vliet, M ^a   Van De Vijver, M J ^a   Vasen, H F A ^b   Voute, P A ^c   Top, B ^d   Khan, P Meera ^a   Devilee, P ^a   Cornelisse, C J ^a  

^a LEIDEN UNIVERSITY   (Netherlands)

^b Found Detection of Hered Tumors   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d NETHERLANDS CANCER INSTITUTE   (Netherlands)

Author keywords

Li Fraumeni like family; missense mutation; TP53; tumor progression

Indexed keywords

PROTEIN P53;

ADULT; ARTICLE; BREAST CANCER; CANCER RECURRENCE; CANCER SUSCEPTIBILITY; FAMILIAL CANCER; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; RHABDOMYOSARCOMA; TUMOR GROWTH;

EID: 0030896421     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:2<157::AID-HUMU8>3.0.CO;2-6     Document Type: Article

References (6)

1. Abeln ECA, Corver WE, Kuipers-Dijkshoorn NJ, Fleuren GJ, Cornelisse CJ (1994) Molecular genetic analysis of flow-sorted ovarian tumor cells: improved detection of loss of heterozygosity. Br J Cancer 70:255-262.
2. Abrams ES, Murdaugh SE, Lehrman LS (1990) Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clamp. Genomics 7:463-475.
3. Beaudet AL, Tsui L-C (1993) A suggested nomenclature for designating mutations. Hum Mutat 2:245-248.
4. Bhatia K, Goldschmidts W, Gutierrez M, Gaidano G, Dalla-Favera R, Magrath I (1993) Hemi- or homozygosity: A requirement for some but not other p53 mutant proteins to accumulate and exert a pathogenetic effect. FASEB J 7:951-956.
5. Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, Harris M, Morris Jones PH, Binchy A, Crowther D, Craft AW, Eden OB, Evans DGR, Thompson E, Mann JR, Martin J, Mitchell ELD, Santibanez-Koref MF (1994) Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54:1298-1304.
6. Børresen A-L, Andersen TI, Garber J, Barbier-Piraux N, Thorlacius S, Eyfjörd J, Ottestad L, Smith-Sørensen B, Hovig E, Malkin D, Friend SH (1992) Screening for germ line TP53 mutations in breast cancer patients. Cancer Res 52:3234-3236.