ABSTRACT
Endometrial carcinoma is the most common gynecologic cancer with approximately 40,000 cases diagnosed in 2004 in the United States (1). Approximately 5% of these are hereditary cancers. The majority of hereditary endometrial cancers occur within families designated as hereditary nonpolyposis colorectal cancer or HNPCC carriers. There are several autosomal dominant genes that, when mutated, can cause this familial syndrome. These genes are involved in DNA repair,
and are often collectively called the mismatch repair (MMR) genes. Though the syndrome is named after colon cancer, endometrial cancer is also extremely common in this syndrome, and some studies suggest that female carriers of the abnormal HNPCC genes are more likely to develop endometrial cancer than colon cancer (discussed later in this chapter). This syndrome was initially described by Aldred Warthin in 1895 when the striking family history of his seamstress, who died of endometrial cancer, came to his attention. In 1913, he published a paper describing this remarkable kindred, which included 10 cases of endometrial cancer and 7 cases of stomach cancer in 48 descendants of a man who died of cancer of the stomach or intestine (2). Multiple cases of colorectal cancer were noted in subsequent generations of this family (3).
