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Concurrent Germline-Somatic Alterations and Associations with Cancer Outcomes: A Systematic Review of Concurrent Data
Lipika R Pal1, Alejandro A Schäffer1, Santiago Avila1
1National Cancer Institute.
Research Square
|February 12, 2026
Summary
Analyzing concurrent germline and somatic alterations in cancer patients reveals their association with clinical outcomes. Integrating this data early in study design can enhance cancer genetics applications.
Area of Science:
- Oncology
- Genetics
- Bioinformatics
Background:
- Routine collection of germline and somatic data in cancer patients is common.
- Understanding the combined impact of these genetic alterations on patient outcomes remains limited.
Purpose of the Study:
- To map the associations between concurrent germline-somatic alterations and clinical outcomes in cancer.
- To identify gaps in reporting and guide future research in cancer genetics.
Main Methods:
- Systematic review of studies published through February 2024 involving patients with cancer.
- Inclusion criteria required studies to have both germline and somatic data with outcome associations.
- Data abstracted included study design, patient characteristics, data types, and reported associations.
Main Results:
- 197 out of 8,613 studies met inclusion criteria.
- Germline BRCA2/somatic TP53 and germline BRCA1/somatic TP53 were the most studied concurrent alterations.
- Statistical analysis of concurrent alterations was performed in 41.6% of studies; 31 reported benefit, 28 reported harm.
Conclusions:
- Concurrent germline-somatic data analysis is crucial for understanding cancer genetics.
- Proactive planning for concurrent data analysis in study design can improve clinical applications.
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