[Cancer Risk in Lynch Syndrome-Associated Endometrial Cancer Patients and Their Relatives]

Area of Science:

• Gynecology
• Oncology
• Genetics

Background:

• Lynch syndrome (LS) is an inherited disorder increasing cancer risk.
• Endometrial cancer (EC) is often the first malignancy (sentinel cancer) in women with LS.
• The incidence of EC as a sentinel cancer in Japanese LS patients is not well-established.

Purpose of the Study:

• To investigate the incidence of EC as a sentinel cancer in Japanese patients with LS.
• To examine the history of malignancies in LS-associated EC patients and their relatives.

Main Methods:

• Retrospective analysis of 8 patients with LS-associated EC (2005-2019).
• Review of personal and family cancer histories, including sentinel cancer identification.
• Analysis of cancer incidence in first- and second-degree relatives.

Main Results:

• 7/8 (88%) LS-EC patients had EC as their sentinel cancer.
• 1/8 (13%) LS-EC patient developed colorectal cancer before EC.
• Among relatives, EC was consistently identified as the sentinel cancer in affected women.

Conclusions:

• Endometrial cancer is a significant sentinel cancer in Japanese women with Lynch syndrome.
• Findings underscore the importance of recognizing EC as an early indicator of LS.
• Further research with larger cohorts is warranted to confirm these observations.