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许多癌综合征表现出强烈的家族性因素,并具有明显的孟德尔遗传模式.常染色体显性遗传病有:多发性内分泌肿瘤(1—3型)、视网膜母细胞瘤、痣样基底细胞癌,神经纤维瘤,结节性硬化症和家族性息肉(1～3型);具有癌发生率高的常染色体隐性遗传病有:毛细血管扩张性共济失调、着色性干皮病、Fanconi 贫血和Bloom 综合征;某些与癌症相关的X-连锁遗传病有:Wiskott-Aldrich 综合征、先天性低免疫球蛋白血症、Purtilo 淋巴组织增生综合征,和严重的混合免疫缺陷.上述多数疾病不同程度地表现出免疫功能异常.
Many cancer syndromes exhibit strong familial factors and have a marked Mendelian inheritance pattern.Etiological disorders include multiple endocrine neoplasms (type 1-3), retinoblastoma, nevus-like basal cell carcinoma , Neurofibromatosis, tuberous sclerosis and familial polyps (type 1 to type 3); autosomal recessive diseases with high rates of cancer include: telangiectasia ataxia, xeroderma pigmentosum, Fanconi Anemia and Bloom syndrome; some of the cancer-related X-linked genetic diseases are Wiskott-Aldrich syndrome, congenital hypoimmunoglobinemia, Purtilo’s lymphoproliferative syndrome, and severe mixed immunodeficiency. Diseases show varying degrees of immune dysfunction.