Offit K, Brown K
Department of Human Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY.
J Clin Oncol. 1994 Aug;12(8):1724-36. doi: 10.1200/JCO.1994.12.8.1724.
Because a family history of cancer constitutes an important risk factor, estimation and communication of cancer risk can facilitate efforts toward early detection and prevention. This review provides a resource for health professionals called to draw upon a multidisciplinary literature to provide quantitative risk estimates to families with cancer.
Descriptive population-derived, epidemiologic, genetic, genetic epidemiologic, and molecular studies are critically reviewed in the context of cancer genetic counseling.
Data are presented that document the increased lifetime relative risk to relatives of individuals with cancers of the breast, ovary, colon, prostate, or other sites. In general, risk ratios are poorly suited for clinical counseling. Age-specific absolute risks are presented for first-degree relatives of individuals affected by cancers of the breast, ovary, and colon. The derivation of Mendelian and Bayesian risk estimates in the setting of well-defined cancer family syndromes, and the growing role of DNA testing in more accurately assessing these risks, are discussed. Such carrier testing requires careful psychologic and ethical considerations.
Multidisciplinary cancer genetic counseling is an emerging resource available to physicians who care for families with common adult malignancies.
由于癌症家族史是一个重要的风险因素，对癌症风险的评估和沟通有助于早期发现和预防工作。本综述为健康专业人员提供了一种资源，这些人员需要借鉴多学科文献，为有癌症家族史的家庭提供定量风险评估。
在癌症遗传咨询的背景下，对基于人群的描述性、流行病学、遗传学、遗传流行病学和分子研究进行了批判性综述。
所呈现的数据记录了乳腺癌、卵巢癌、结肠癌、前列腺癌或其他部位癌症患者的亲属一生中相对风险的增加。一般来说，风险比不太适合临床咨询。给出了乳腺癌、卵巢癌和结肠癌患者一级亲属的年龄特异性绝对风险。讨论了在明确的癌症家族综合征背景下孟德尔和贝叶斯风险估计的推导，以及DNA检测在更准确评估这些风险中日益重要的作用。这种携带者检测需要仔细的心理和伦理考量。
多学科癌症遗传咨询是一种新兴资源，可供照顾患有常见成人恶性肿瘤家庭的医生使用。
