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Methods and Challenges of Variant Annotation in Hereditary Cancer

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"Methods and Challenges of Variant Annotation in Hereditary Cancer"

The field of genetic testing for hereditary cancer is rapidly evolving. Identification of BRCA1 and BRCA2 paved the way for personalized medicine and created a new paradigm for hereditary breast and ovarian cancer (HBOC) syndrome diagnosis and prevention.

Likewise, discovery of the molecular basis of Lynch syndrome led to a clearer definition of the syndrome’s clinical spectrum and improved our ability to identify individuals at high risk of hereditary colon and endometrial cancers. Identification of mutation carriers is critical, as it enables the administration of interventions that are proven to confer significant survival benefits, particularly for highly penetrant genetic mutations.

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