Li F P
Clinical Studies Section, National Cancer Institute, Bethesda, Maryland 20892.
Cancer Res. 1988 Oct 1;48(19):5381-6.
Members of cancer families are at exceptionally high risk and can be studied as human models of cancer susceptibility. These patients represent rare "experiments of nature" that can reveal new insights into carcinogenic processes. We use clinical observations to identify the high risk patient, epidemiological studies to quantitate the excess risk, and laboratory investigations to examine the biological basis of susceptibility. We have uncovered a series of new family cancer syndromes that are under study for molecular mechanisms involved in the pathogenesis of cancers in general. This presentation describes our investigations of four disorders: the syndrome of sarcomas, breast cancer, and other neoplasms; inheritance of both renal cell carcinoma and a constitutional chromosome translocation in a kindred; familial Wilms' tumor; and the hepatoblastoma-adenomatous polyposis association.
癌症家族成员面临着极高的风险，可作为癌症易感性的人类模型进行研究。这些患者代表了罕见的“自然实验”，能够揭示致癌过程的新见解。我们利用临床观察来识别高危患者，通过流行病学研究来量化额外风险，并借助实验室研究来探究易感性的生物学基础。我们已经发现了一系列新的家族性癌症综合征，目前正在对其涉及癌症发病机制的分子机制进行研究。本报告描述了我们对四种疾病的研究：肉瘤、乳腺癌及其他肿瘤综合征；一个家族中肾细胞癌与一种先天性染色体易位的遗传；家族性威尔姆斯瘤；以及肝母细胞瘤-腺瘤性息肉病关联。
