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Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations.
Oncogene 1994; 9(4):1237-9O

Abstract

Codon 257 of the p53 gene is an extremely rare target for somatic mutations (accounting for only two of 1600 published mutations). We report here two constitutional mutations both affecting the second nucleotide of codon 257. A thymine to adenine transversion resulting in an amino acid change from leucine to glutamine was found in one proband who developed multiple independent malignant tumors (osteosarcoma, phyllodes tumor, soft-tissue sarcoma). Her mother died of early-onset breast cancer. In the other case, a deletion resulting in a frameshift in the C-terminal coding region of p53 was found in a woman who was diagnosed with breast cancer at age 34. This woman belongs to a family with features of Li-Fraumeni syndrome. In both cases, the p53 mutations identified in the proband was found in other members of the family. Codon 257, even if rarely mutated in somatic cells, may thus be an important target for germ-line mutations.

Authors+Show Affiliations

Laboratoire d'Oncologie Moléculaire--CJF INSERM 9302, Centre Léon Bérard, Lyon, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8134127

Citation

Mazoyer, S, et al. "Two Germ-line Mutations Affecting the Same Nucleotide at Codon 257 of P53 Gene, a Rare Site for Mutations." Oncogene, vol. 9, no. 4, 1994, pp. 1237-9.
Mazoyer S, Lalle P, Moyret-Lalle C, et al. Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations. Oncogene. 1994;9(4):1237-9.
Mazoyer, S., Lalle, P., Moyret-Lalle, C., Marçais, C., Schraub, S., Frappaz, D., ... Ozturk, M. (1994). Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations. Oncogene, 9(4), pp. 1237-9.
Mazoyer S, et al. Two Germ-line Mutations Affecting the Same Nucleotide at Codon 257 of P53 Gene, a Rare Site for Mutations. Oncogene. 1994;9(4):1237-9. PubMed PMID: 8134127.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations. AU - Mazoyer,S, AU - Lalle,P, AU - Moyret-Lalle,C, AU - Marçais,C, AU - Schraub,S, AU - Frappaz,D, AU - Sobol,H, AU - Ozturk,M, PY - 1994/4/1/pubmed PY - 1994/4/1/medline PY - 1994/4/1/entrez SP - 1237 EP - 9 JF - Oncogene JO - Oncogene VL - 9 IS - 4 N2 - Codon 257 of the p53 gene is an extremely rare target for somatic mutations (accounting for only two of 1600 published mutations). We report here two constitutional mutations both affecting the second nucleotide of codon 257. A thymine to adenine transversion resulting in an amino acid change from leucine to glutamine was found in one proband who developed multiple independent malignant tumors (osteosarcoma, phyllodes tumor, soft-tissue sarcoma). Her mother died of early-onset breast cancer. In the other case, a deletion resulting in a frameshift in the C-terminal coding region of p53 was found in a woman who was diagnosed with breast cancer at age 34. This woman belongs to a family with features of Li-Fraumeni syndrome. In both cases, the p53 mutations identified in the proband was found in other members of the family. Codon 257, even if rarely mutated in somatic cells, may thus be an important target for germ-line mutations. SN - 0950-9232 UR - https://www.unboundmedicine.com/medline/citation/8134127/Two_germ_line_mutations_affecting_the_same_nucleotide_at_codon_257_of_p53_gene_a_rare_site_for_mutations_ L2 - https://medlineplus.gov/breastcancer.html DB - PRIME DP - Unbound Medicine ER -