Mendelian genetics of rare—and not so rare—cancers

Abstract excerpt

Mendelian genetics forms the basis for gene-informed risk assessment and management for the patient and family, and should be at the very foundation of 21st century personalization of healthcare. Yet this is an underutilized commodity. Identification and characterization of germline mutations in the RET proto-oncogene, encoding a receptor tyrosine kinase, as causing >90% of multiple endocrine neoplasia type 2...

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