Cancer Genetic Predisposition and Clinical Applications-A Narrative Review on Germline Genetic Testing, High-Risk...

Area of Science:

• Genetics
• Oncology
• Clinical Medicine

Background:

• Germline genetic variation is vital for understanding and managing hereditary cancers.
• Clinical guidelines exist for genetic testing, variant classification, and surveillance, but cross-disciplinary understanding is limited.
• Advances in genetic technology, like next-generation sequencing, enable multi-gene panel testing for cancer risk stratification.

Purpose of the Study:

• To synthesize current knowledge on germline genetics in cancer care for a broad clinical audience.
• To connect key concepts in genetic mechanisms, cancer syndromes, and clinical management.
• To clarify the principles and rationale behind recommended practices in hereditary cancer management.

Main Methods:

• Review of current literature and clinical guidelines on germline genetics and cancer predisposition.
• Synthesis of information from various professional domains (genetics, oncology, etc.).
• Use of specific cancer predisposition syndromes (breast and ovarian, Lynch, Li-Fraumeni) as illustrative examples.

Main Results:

• Numerous genes and pathogenic variants contributing to cancer predisposition have been identified.
• Next-generation sequencing facilitates routine multi-gene panel testing for cancer risk assessment.
• Tumor genomic profiling can reveal germline mutations, impacting patient and family cancer risk.
• Polygenic factors also contribute to cancer susceptibility.

Conclusions:

• Integrating germline genetic information into cancer care is advancing, but challenges in variant interpretation and risk stratification persist.
• Personalized screening and prevention strategies are key to managing hereditary cancer risks.
• A unified understanding of germline genetics is essential for effective, cross-disciplinary cancer care.