Division of Clinical Genetics, Feinberg School of Medicine of Northwestern University, Chicago, IL, USA.
Obstet Gynecol Clin North Am. 2010 Mar;37(1):109-33, Table of Contents. doi: 10.1016/j.ogc.2010.03.003.
This article provides an overview of the molecular changes associated with inherited gynecologic malignancies and the incorporation of this information in the counseling of individuals at increased risk for developing malignancies, as well as conventional and emerging approaches to the screening of the general population. Cancer genetic counseling and its role in women's health care is examined. The focus is hereditary breast and ovarian cancer; however, cancer predisposition caused by genes other than BRCA1 and BRCA2 is also considered. The aim is to provide a foundation for counseling based on fundamental knowledge of the genes and their clinical consequences. The reader is then guided through the mechanics of risk assessment for individual patients, concluding with the psychosocial implications of counseling.
本文概述了与遗传性妇科恶性肿瘤相关的分子变化，并介绍了如何将这些信息纳入对高风险个体的咨询中，以及如何对普通人群进行常规和新兴的筛查。本文还探讨了癌症遗传咨询及其在女性保健中的作用。重点是遗传性乳腺癌和卵巢癌，但也考虑了由 BRCA1 和 BRCA2 以外的基因引起的癌症易感性。目的是为基于基因及其临床后果的基本知识进行咨询提供基础。然后，本文指导读者对个体患者进行风险评估的机制，最后讨论咨询的心理社会影响。
