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Updated: Jun 2, 2026
Yeast As a Chassis for Developing Functional Assays to Study Human P53
Published on: August 4, 2019
Relative paucity of p53 gene-mutations in male breast carcinomas
1US FDA,CBER,MOLEC MED GENET LAB,BETHESDA,MD 20892. DYN CORP,PROGRAM RESOURCES INC,FREDERICK,MD 21702. PAPANIKOLAOU RES CTR ONCOL & EXPTL SURG,HELLEN ANTICANC INST,ATHENS,GREECE.
Abstract:
Mutations of the p53 suppressor -ene are the most common genetic lesion noted in human cancers and appear to be relatively common (30%) as somatic cell mutations in female breast cancer. p53 mutations have also been frequently reported in familial breast cancers as in Li-Fraumeni syndrome (LFS). Males with breast cancer are far rarer than females. We investigated the mutational spectra of the p53 gene in male breast cancers. Of 10 samples analyzed for p53 mutations in exons 5, 6. 7 and 8, only two showed point mutations corresponding to amino acid residues 248 and 290. One of the point mutations turned out to be a silent change, thus representing only DNA polymorphism. Although the number of male breast cancer samples thus far examined is small, the p53 mutations in male breast cancer (10%), unlike females (30%), does not appear to be as frequent.
Insights
p53 gene mutations are common in female breast cancer but less frequent in male breast cancer. This study found only 10% mutation rate in male breast cancer samples, contrasting with 30% in females.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Mutations in the p53 tumor suppressor gene are prevalent in human cancers, occurring in 30% of female breast cancers.
- p53 mutations are also associated with familial breast cancer syndromes like Li-Fraumeni syndrome (LFS).
- Male breast cancer is a rare condition compared to female breast cancer.
Purpose of the Study:
- To investigate the mutational spectrum of the p53 gene in male breast cancer.
- To compare the frequency of p53 mutations in male versus female breast cancer.
Main Methods:
- Analysis of p53 gene mutations in exons 5, 6, 7, and 8.
- Sequencing of DNA from 10 male breast cancer samples.
Main Results:
- Two out of 10 male breast cancer samples (10%) exhibited p53 point mutations.
- Mutations were identified at amino acid residues 248 and 290.
- One mutation was a silent change, indicating DNA polymorphism rather than a pathogenic mutation.
Conclusions:
- p53 gene mutations appear less frequent in male breast cancer (10%) compared to female breast cancer (30%).
- Further research with larger sample sizes is warranted to confirm these findings in male breast cancer.
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