Canadian Medical Guide > Diseases > Neoplasms > Neoplastic Syndromes, Hereditary Terms and Definitions




Neoplastic Syndromes, Hereditary

Medical Definition: The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Guide Notes: do not use /blood supply /chem /second /secret /ultrastruct; coord IM with specific hereditary organ/neopl term (IM) or specific hereditary histol type (IM)
Neoplastic Syndromes, Hereditary Categories.
Canadian Medical Guide Definition Li-Fraumeni Syndrome - Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. A point mutation of the p53 tumor suppressor gene apparently predisposes family members who inherit it to develop certain cancers.
Canadian Medical Guide Definition Peutz-Jeghers Syndrome - A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.

Neoplastic Syndromes, Hereditary Medical Definitions and Terms

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