Mutations in p53 as potential molecular markers for human breast cancer

Journal Article · Sun Dec 01 00:00:00 EST 1991 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.88.23.10657· OSTI ID:5703856

Runnebaum, I B; Nagarajan, M; Bowman, M; Soto, D; Sukumar, S ^[1]

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1. Salk Inst. for Biological Studies, La Jolla, CA (United States)

Based on the high incidence of loss of heterozygosity for loci on chromosome 17p in the vicinity of the p53 locus in human breast tumors. The authors investigated the frequency and effects of mutations in the p53 tumor suppressor gene in mammary neoplasia. They examined the p53 gene in 20 breast cancer cell lines and 59 primary breast tumors. Northern blot analysis, immunoprecipitation, and nucleotide sequencing analysis revealed aberrant mRNA expression, over-expression of protein, and point mutations in the p53 gene in 50% of the cell line tested. A multiplex PCR assay was developed to search for deletions in the p53 genomic locus. Multiplex PCR of genomic DNA showed that up to 36% of primary tumors contained aberrations in the p53 locus. Mutations in exons 5-9 of the p53 gene were found in 10 out of 59 (17%) of the primary tumors studied by single-stranded conformation polymorphism analysis. They conclude that, compared to amplification of HER2/NEU, MYC, or INT2 oncogene loci, p53 gene mutations and deletions are the most frequently observed genetic change in breast cancer related to a single gene. Correlated to disease status, p53 gene mutations could prove to be a valuable marker for diagnosis and/or prognosis of breast neoplasia.

• OSTI ID: 5703856
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Vol. 88:23; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HUMAN CHROMOSOME 17
GENE MUTATIONS
NEOPLASMS
BIOLOGICAL MARKERS
RECOMBINANT DNA
DNA SEQUENCING
ELECTROPHORESIS
GENE REPRESSORS
MAMMARY GLANDS
MUTATION FREQUENCY
PHOSPHORUS 32
WOMEN
ANIMALS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
BODY
CHROMOSOMES
DAYS LIVING RADIOISOTOPES
DISEASES
DNA
FEMALES
GLANDS
HUMAN CHROMOSOMES
ISOTOPES
LIGHT NUCLEI
MAMMALS
MAN
MUTATIONS
NUCLEI
NUCLEIC ACIDS
NUCLEOPROTEINS
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
ORGANS
PHOSPHORUS ISOTOPES
PRIMATES
PROTEINS
RADIOISOTOPES
STRUCTURAL CHEMICAL ANALYSIS
VERTEBRATES
550200* - Biochemistry