Lynch syndrome related endometrial cancer: clinical significance beyond the endometrium

Yiying Wang, Yue Wang, Jie Li, Janiel Cragun, Kenneth Hatch, Setsuko K Chambers, Wenxin Zheng, Yiying Wang, Yue Wang, Jie Li, Janiel Cragun, Kenneth Hatch, Setsuko K Chambers, Wenxin Zheng

Abstract

Lynch syndrome (LS), an autosomal dominant inherited cancer susceptibility syndrome, also known as hereditary non-polyposis colon cancer (HNPCC), is caused by a germline mutation in one of several DNA mismatch repair (MMR) genes. LS is the most common presentation of hereditary colorectal cancer (CRC), accounting for about 2-5% of all CRC cases. More recently, it is found that a similar number of endometrial cancers is also due to one of the MMR gene mutations. There has been significant progress in LS-related CRC in terms of molecular pathogenesis, risks, genetic basis, and cancer prevention. In contrast, the advance about LS-related endometrial cancer (EC) is very much limited. In this commentary, we summarize the main clinicopathologic features of LS-related EC and propose universal screening for LS in individuals with endometrial cancer.

Figures

Figure 1
Figure 1
Algorithm of screening patients with endometrial cancer for Lynch syndrome. This algorithm does not cover the rare finding of Cowden’s Syndrome. Referral to the genetics counselor can always be made in any situation where the clinicopathologic suspicion is strong for Lynch syndrome.

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Source: PubMed

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