The R72P P53 mutation and breast cancer risk in Jewish women
Author Information
Author(s): Ohayon T, Gershoni-Baruch R, Papa M Z, Distelman Menachem T, Eisenberg Barzilai S, Friedman E
Primary Institution: The Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel
Hypothesis
Is the R72P P53 mutation associated with an increased risk of familial breast cancer in Jewish women?
Conclusion
The study found that arginine homozygosity at codon 72 of the p53 gene is associated with a significantly increased breast cancer risk in Jewish high-risk populations.
Supporting Evidence
- The study analyzed 132 Jewish breast cancer patients and 167 average risk controls.
- Significant differences in allele distribution of the R72P mutation were found between cases and controls.
- No inactivating p53 germline mutations were detected in the analyzed individuals.
Takeaway
This study looked at a specific gene mutation in Jewish women to see if it makes them more likely to get breast cancer. They found that having a certain version of the gene does increase the risk.
Methodology
The study involved mutational analysis of the p53 gene using polymerase chain reaction and denaturing gradient gel electrophoresis, comparing Jewish breast cancer patients with average risk controls.
Potential Biases
The applicability of findings to average risk populations is unclear.
Limitations
The study is limited to women affected with breast cancer from two medical centers in Israel, which may not represent other populations.
Participant Demographics
132 Jewish breast cancer patients (82% Ashkenazi, 18% non-Ashkenazi) and 167 average risk controls (60 Ashkenazi, 107 non-Ashkenazi).
Statistical Information
P-Value
0.00052
Statistical Significance
p=0.00052
Digital Object Identifier (DOI)
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