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A Laboratory Guide to Hereditary Cancer Testing

Dec. 9, 2024
Hereditary cancer syndromes account for about 10% of all cancer diagnoses. A patient's cancer diagnosis or family history of cancer can raise the question of whether they carry a genetic mutation linked to cancer susceptibility.

Genomic profiling of a tumor can provide insights into potential hereditary cancer syndromes, with identification of germline mutations offering important information for treatment decisions, risk of future cancers, and the cancer risks for family members. If a hereditary cancer mutation is identified, it can guide management strategies, such as cancer screening, preventive interventions, and decisions about lifestyle or family planning. Even in the absence of a personal cancer history, a family history of certain cancers (e.g., breast, ovarian, pancreatic, prostate, or colorectal) may suggest the need for genetic testing, especially if a close relative has a known cancer-related gene mutation.

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