Study of Gene Variants in Endometrial and Breast Cancer Patients from Kazakhstan
Author Information
Author(s): Zheng Ying, Vdovichenko Natalia, Schürmann Peter, Ramachandran Dhanya, Geffers Robert, Speith Lisa‐Marie, Bogdanova Natalia, Enßen Julia, Dubrowinskaja Natalia, Yugay Tatyana, Yessimsiitova Zura Berkutovna, Turmanov Nurzhan, Hillemanns Peter, Dörk Thilo
Primary Institution: Hannover Medical School
Hypothesis
What is the distribution of pathogenic variants in mismatch repair and homology-directed repair genes among endometrial and breast cancer patients in Kazakhstan?
Conclusion
Pathogenic variants in mismatch repair and homology-directed repair genes occur at significant frequencies in both breast and endometrial cancer patients from Kazakhstan.
Supporting Evidence
- 10 endometrial cancer patients (2.9%) carried pathogenic variants in MMR genes.
- 14 endometrial cancer patients (4.1%) carried pathogenic variants in HDR genes.
- 8 breast cancer patients (4.5%) had pathogenic variants in MMR genes.
- 12 breast cancer patients (6.7%) had pathogenic variants in HDR genes.
Takeaway
This study looked at patients with endometrial and breast cancer in Kazakhstan to see if they had certain gene changes that could affect their cancer. They found that many patients had these changes.
Methodology
The study involved targeted next-generation sequencing of genes related to mismatch repair and homology-directed repair in patients with endometrial and breast cancer.
Potential Biases
Potential bias due to the unselected nature of the patient cohort and the ethnic diversity of the population.
Limitations
The study lacked sequencing data for a healthy population and did not include extensive tumor characterization.
Participant Demographics
Patients were of Asian (mainly Altaic) or European (mainly Russian) ancestry, with a median age of 60 for endometrial cancer and 52 for breast cancer.
Statistical Information
P-Value
p=0.0009
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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