Hereditary non-polyposis colorectal cancer/Lynch syndrome in Korean patients with endometrial cancer.
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 colorectal cancer. Using direct sequencing, germline mutations were analyzed in the MLH1 and MSH2 genes.


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 colorectal 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 test.
Lim
Myong Cheol
MC
Center for Uterine Cancer, Research Institute and Hospital, National Cancer Center, 323, Ilsandong-gu, Goyang-si, Gyeonggi-do 410-769, South Korea.
Seo
Sang-Soo
SS
Kang
Sokbom
S
Seong
Moon-Woo
MW
Lee
Bo-Yon
BY
Park
Sang-Yoon
SY
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000251:Adenosine Triphosphatases / Q000235:genetics; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control; D045643:DNA Repair Enzymes / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D016889:Endometrial Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing / Q000523:psychology / Q000706:statistics & numerical data; D006801:Humans; D007723:Korea / Q000453:epidemiology; D008875:Middle Aged; D000070976:Mismatch Repair Endonuclease PMS2; D000070957:MutL Protein Homolog 1; D000070956:MutL Proteins; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010342:Patient Acceptance of Health Care / Q000523:psychology / Q000706:statistics & numerical data; D012107:Research Design; D012189:Retrospective Studies
D048868:Adaptor Proteins, Signal Transducing; D014408:Biomarkers, Tumor; D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; D005819:Genetic Markers; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; C088996:PMS1 protein, human; D000251:Adenosine Triphosphatases; C094934:PMS2 protein, human; C497172:MSH2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D000070957:MutL Protein Homolog 1; D000070956:MutL Proteins; D051718:MutS Homolog 2 Protein; D045643:DNA Repair Enzymes