Lynch syndrome, also called hereditary nonpolyposis colorectal cancer (HNPCC), is associated with cancer diagnosis at an early age and the development of multiple cancer types, particularly colon and endometrial cancer [1-4].
Until recently, the majority of attention and research related to Lynch syndrome has focused on colorectal cancer. However, women with Lynch syndrome have a 27 to 71 percent risk of endometrial cancer, which equals or exceeds their risk of colorectal cancer (table 1) [5,6]. In addition, they have a 3 to 14 percent risk of ovarian cancer [5,6]. The management of endometrial and ovarian cancer risks in women with Lynch syndrome includes surveillance, chemoprevention and risk-reducing surgery.
Endometrial and ovarian cancer screening and prevention in women with Lynch syndrome are reviewed here. Genetic testing for Lynch syndrome and Lynch syndrome related to colorectal cancer is discussed separately. (See "Lynch syndrome (hereditary nonpolyposis colorectal cancer): Clinical manifestations and diagnosis" and "Lynch syndrome (hereditary nonpolyposis colorectal cancer): Screening and management of patients and families".)
The use of the name HNPCC can be misleading since this disorder predisposes to a variety of other cancers in addition to colorectal cancer. As a result, the previously used name, Lynch syndrome (after Dr. Henry Lynch, who did much to characterize and emphasize the importance of this familial syndrome), is being used more commonly.
Lynch syndrome mutations — Lynch syndrome is an autosomal dominant inherited cancer susceptibility syndrome caused by a germline mutation in one of the DNA mismatch repair genes (MMR): MSH2, MLH1, MSH6, PMS2 . Mutations in MSH2 or MLH1 are thought to account for about 90 percent of the heterozygous germline mutations that have been identified in patients with Lynch syndrome, MSH6 mutations are thought to account for most of the remainder, and PMS2 mutations have been described in relatively few Lynch families.