Hereditary Gynecologic Cancer Syndromes

摘要

It has long been known that some families have a predilection for cancer; With the advances in cancer genetics during the past two decades, we now have the ability to test for many of these deleterious mutations. In gynecologic practice, the hereditary malignancies include cancers of the ovary, fallopian tube, peritoneum, and endometrium. The main syndromes that account for these are the hereditary breast/ovarian cancer (HBOC) syndrome and the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, also known as Lynch syndrome. Approximately 5% of endometrial cancers, 10% of ovarian cancers, and 16% of tubal cancers are linked to these syndromes. In addition, cancers of the breast and colon, along with a number of other malignancies, are linked to these syndromes and frequently provide clues to their presence. Although the germline mutations involved in these syndromes are inherited in an autosomal dominant fashion, they are recessive in terms of how they are expressed. A normal gene copy will be inherited from the unaffected parent, and as long as that copy is intact, the individual will be protected. When the normal copy undergoes a mutation, the individual is at risk of cancer development due to loss of genetic func-tion in both copies. This is what leads to the variable penetrance of these genetic mutations. Because of the autosomal dominant inheritance, both the matemal and patemal family histories should be investigated.