Hereditary Non-polyposis Colorectal Cancer/Lynch Syndrome
in Korean Patients with Endometrial Cancer
Myong Cheol Lim1, Sang-Soo Seo1, Sokbom Kang1, Moon-Woo Seong2, Bo-Yon Lee3and Sang-Yoon Park1,*
1Center for Uterine Cancer, Research Institute and Hospital, National Cancer Center,2Department of Laboratory
Medicine, Center for Clinical Services, Research Institute and Hospital, National Cancer Center, Goyang-si,
Gyeonggi-do and3Department of Obstetrics and Gynecology, Kyunghee University Medical Center, Kyung-Hee
University, Dongdaemoon-gu, Seoul, South Korea
*For reprints and all correspondence: Sang-Yoon Park, Center for Uterine Cancer, Research Institute and Hospital,
National Cancer Center, 323, Ilsandong-gu, Goyang-si, Gyeonggi-do 410-769, South Korea. E-mail: sypark.ncc@
Received November 12, 2009; accepted June 30, 2010
Objective: We investigate the frequency of hereditary non-polyposis colorectal cancer among
Korean endometrial cancer patients according to two clinical criteria and the uptake rate of a
genetic test and genetic status of such patients in routine clinical practice.
Methods: This was a retrospective study involving 161 consecutive endometrial cancer
patients. Patients were classified into clinical and suspected hereditary non-polyposis colorec-
tal cancer. Using direct sequencing, germline mutations were analyzed in the MLH1 and
Results: There were four (2.5%) clinical hereditary non-polyposis colorectal cancer patients,
three of whom underwent genetic testing, and a mutation (c.882delT) in the MSH2 gene was
identified in one patient. There were also 14 (8.7%) suspected hereditary non-polyposis color-
ectal cancer patients, 6 of whom underwent genetic testing; 1 [1/6 (16.7%)] patient had a
mutation (c.1757_1758insC) in the MLH1 gene and 1 patient had a sequence variant of
unknown significance (c.1886A , G) in the MSH2 gene. Half of the patients (9 of 18) who
met clinical or suspected hereditary non-polyposis colorectal cancer criteria declined genetic
testing mainly for the reason of financial factor (8 of 9).
Conclusions: The proportion of hereditary non-polyposis colorectal cancer [11.2% (18 of
161)] was significant to offer genetic counseling and genetic testing in Korean endometrial
cancer patients. Optimal financial support is crucial to increase the uptake rate of a genetic
Key words: MLH1 – MSH2 – Koreans – hereditary disease – endometrial cancer
The incidence of endometrial cancer has been increasing
over the past decade in Korea (1). Inherited factors are
suggested as one of the most important risk factors for endo-
metrial cancer (2). In addition to rare Mendelian-inherited
syndromes with a predisposition to endometrial cancer, such
as Muir Torre, Cowden and Turcot syndromes, hereditary
non-polyposis colorectal cancer (HNPCC) is a common
autosomal dominant condition characterized by the develop-
ment of colon and endometrial cancers. The genes that are
responsible for repair of mismatched DNA are defective in
families with this syndrome (2). HNPCC is caused by several
germline mutations in the DNA mismatch repair (MMR)
genes, MLH1, MSH2, PMS1, PMS2 and MSH6 (3–6).
The Amsterdam criteria, the first clinical criteria for the
diagnosis of HNPCC (c-HNPCC), were established in 1991
# The Author (2010). Published by Oxford University Press. All rights reserved.
Jpn J Clin Oncol 2010;40(12)1121–1127
Advance Access Publication 21 October 2010
by guest on October 19, 2015
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