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AS06. Genetics and epidemiology
EP192/#809  Clinical features of cancers diagnosed in patients with lynch syndrome-associated gene germline mutations
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  1. Ji Eun Lee1,
  2. Dongju Won2,
  3. Ji Soo Park3,
  4. Tae Il Kim4 and
  5. Eunji Nam1
  1. 1Yonsei University College of Medicine, Department of Obstetrics and Gynecology, Women’s Cancer Center, Yonsei Cancer Center, Institute of Women’s Life Medical Science, Seoul, Korea, Republic of
  2. 2Severance Hospital, Yonsei University College of Medicine, Department of Laboratory Medicine, Seoul, Korea, Republic of
  3. 3Yonsei Cancer Center, Yonsei University College of Medicine, Department of Internal Medicine, Division of Medical Oncology, Seoul, Korea, Republic of
  4. 4Division of Gastroenterology, Severance Hospital, Yonsei University College of Medicine, Department of Internal Medicine, Seoul, Korea, Republic of

Abstract

Introduction The purpose of this study is to determine the clinical features of comorbid cancers by gene (MLH1, MSH2, MSH6, PMS2, EPCAM) in patients diagnosed with Lynch syndrome (LS).

Methods A multipanel NGS (oncorisk®) test for 56 cancer predisposition genes was performed in patients diagnosed with cancer at an early age or suspected of having an inherited cancer syndrome based on family history. Lynch syndrome associated genes were found in 112 patients. A medical record review was performed to examine the clinical features of the various cancers diagnosed in the patients.

Results Among a total of 112 patients diagnosed with Lynch syndrome, 36 (32.14%) patients were MLH1 variants, 38 (33.92%) patients had mutation in the MSH2 gene. And 16 (14.28%) patients had mutation in the MSH6 gene, 15 (13.39%) patients were PMS2. Pathogenic MLH1 and MSH2 variants caused high penetrance dominant cancer syndromes sharing similar colorectal, endometrial cancer risks, but pathogenic MSH6, PMS2 variants caused high penetrance endometrial, ovary cancers. Older MSH2 variant carriers had higher risk of cancers of the urinary tract.

Abstract EP192/#809 Figure 1
Abstract EP192/#809 Figure 1

Conclusion/Implications MLH1 and MSH2 are the genes with the highest number of mutations among the patients, with MLH1 being associated with a higher incidence of colorectal cancer, while MSH6, PMS2, and EPCAM are associated with a higher incidence of gynecologic cancer.

https://doi.org/10.1136/ijgc-2023-IGCS.276

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