ABSTRACT
The primary hereditary cancer syndromes that confer an increased risk for
gynecologic cancers are hereditary breast-ovarian cancer syndrome (HBOC) and
Lynch syndrome/hereditary nonpolyposis colorectal cancer (HNPCC).
Approximately 5% of uterine cancers and 10% of ovarian cancers are attributed
to a hereditary cause. Deleterious germ line mutations associated with these
syndromes have been identified in the BRCA1 and BRCA2 genes for HBOC and
in mismatch repair genes (i.e., hMLH1, hMSH2, hMLH6, PMS1) for Lynch
syndrome. Through genetic testing, health care providers can identify women
who carry such mutations and subsequently have a risk for developing uterine or
ovarian cancer that substantially exceeds the general population risk for these
diseases. A primary benefit of genetic testing is the ability to offer targeted
options for cancer risk reduction and risk management to those high-risk persons.
