Germline Variants in DNA Repair Genes and Cervical Cancer
Author Information
Author(s): Lara Kokemüller, Dhanya Ramachandran, Peter Schürmann, Robert Geffers, Matthias Jentschke, Gerd Böhmer, Hans‐Georg Strauß, Christine Hirchenhain, Monika Schmidmayr, Florian Müller, Peter A. Fasching, Alexander Luyten, Norman Häfner, Peter Hillemanns, Thilo Dörk
Primary Institution: Hannover Medical School
Hypothesis
Do germline variants in homology-directed repair (HDR) or mismatch repair (MMR) genes influence the risk of cervical cancer?
Conclusion
The study found that 4% of cervical cancer patients carried pathogenic germline variants in HDR and MMR genes, with HDR variants associated with HPV-positive cancers.
Supporting Evidence
- 4% of patients had pathogenic germline variants in HDR and MMR genes.
- Most HDR variants were found in HPV-positive cervical cancers.
- Pathogenic variants were associated with earlier age at diagnosis.
- MMR variants were more common in adenocarcinomas.
- Variants in HDR genes may be targeted for future therapies.
Takeaway
Some people with cervical cancer have changes in their genes that help repair DNA, which might affect their cancer risk and treatment options.
Methodology
Targeted next-generation sequencing was performed on 728 patients to identify germline variants in 5 MMR and 12 HDR genes.
Potential Biases
Potential bias due to the enrichment of patients with invasive cancer in the study cohort.
Limitations
The study's sample size may limit the generalizability of the findings, and the association with HPV-negative cancers was not established.
Participant Demographics
The study included 728 German patients with cervical dysplasia or invasive cancer.
Statistical Information
P-Value
p=0.09
Confidence Interval
95% CI, 0.70–2.07
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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