A novel deletion within exon 6 of TP53 in a family with Li-Fraumeni- like syndrome, and LOH in a benign lesion from a mutation carrier

Cancer Genetics and Cytogenetics

Volumn 90, Issue 1, 1996, Pages 14-16

  Varley, J M ^a,b   Thorncroft, M ^a   McGown, G ^a   Tricker, K ^a   Birch, J M ^a   Evans, D G R ^a  

^a CRC Paediatr/Familial Cancer R   (United Kingdom)

^b CHRISTIE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BREAST CARCINOMA; CARCINOGENESIS; CHROMOSOME LOSS; CLINICAL ARTICLE; ENDOMETRIUM TUMOR; EXON; FAMILIAL CANCER; FEMALE; GENE DELETION; HETEROZYGOTE DETECTION; HUMAN; LEIOMYOSARCOMA; MALE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RECTUM CARCINOMA;

EID: 0030220736     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/0165-4608(96)00059-3     Document Type: Article

References (11)

1. 1. Li FP, Fraumeni JF (1969): Soft-tissue sarcomas, breast cancer and other neoplasms: a familial syndrome? Ann Intern Med 71:747-752.
2. 2. Li FP, Fraumeni JF, Mulvihill JJ, Blattner WA, Dreyfus MG, Tucker MA, Miller RW (1988): A cancer family syndrome in twenty-four kindreds. Cancer Res 48:5358-5362.
3. 3. 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.
4. 4. Malkin D, Li FP, Strong LC, Fraumeni JF, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA, Friend SH (1990): Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250:1233-1238.
5. 5. Srivastava S, Zou Z, Pirollo K, Blattner W, Chang EH (1990): Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature 348:747-749.
6. 6. Frebourg T, Barbier N, Yan Y, Garber JE, Dreyfus M, Fraumeni J, Li FP, Friend SH (1995): Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. Am J Hum Genet 56:608-615.
7. 7. Birch JM (1994): Li-Fraumeni syndrome. Eur J Cancer 30A: 1935-1941.
8. 8. Barnes DM, Hanby AM, Gillett CE, Mohammed S, Hodgson S, Bobrow LG, Leigh IM, Purkis T, MacGeoch C, Spurr NK, Bartek J, Vojtesek B, Picksley SM, Lane DP (1992): Abnormal expression of wild-type p53 protein in normal cells of a cancer family patient. Lancet 340:259-263.
9. 9. Varley JM, McGown G, Thorncroft M, Tricker KJ, Teare MD, Santibanez-Koref MF, Houlston RS, Martin J, Birch JM, Evans DGR (1995): An extended Li Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. J Med Genet 32:942-945.
10. 10. Soussi T, Caron de Fromentel C, May P (1990): Structural aspects of the p53 protein in relation to gene evolution. Oncogene 5:945-952.
11. 11. Stolzenberg M-C, Brugieres L, Gardes M, Dessarps-Freichey F, Chompret A, Bressac B, Lenoir G, Bonaiti-Pellie C, Lemerle J, Feunteun J (1994): Germ-line exclusion of a single p53 allele by premature termination of translation in a Li-Fraumeni family. Oncogene 9:2799-2804.