Hereditary nonpolyposis colorectal cancer in endometrial cancer patients.

Endometrial cancer is the second most common cancer in hereditary nonpolyposis colorectal cancer (HNPCC). It has often been overlooked to explore the possibility of HNPCC in endometrial cancer patients. Our study was to investigate how many HNPCC patients existed among endometrial cancer patients. Among patients who underwent hysterectomy for endometrial cancer at Seoul National University Hospital from 1996 to 2004, 113 patients were included, whose family history and clinical data could be obtained and tumor specimens were available for microsatellite instability (MSI) testing and immunohistochemical (IHC) staining of MLH1, MSH2 and MSH6 proteins. There were 4 (3.5%) clinical HNPCC patients fulfilling the Amsterdam criteria II, and 2 (2/4, 50%) of them carried MSH2 germline mutations. There were also 8 (7.1%) suspected HNPCC (s-HNPCC) patients fulfilling the revised criteria for s-HNPCC, and one (1/8, 12.5%) of them revealed MLH1 germline mutation. In 101 patients, who were not clinical HNPCC or s-HNPCC, 11 patients showed both MSI-high and loss of expression of MLH1, MSH2 or MSH6 proteins, and 2 (2/11, 18.2%) of them showed MSH6 germline mutations. In 113 patients with endometrial cancer, we could find 5 (4.4%) HNPCC patients with MMR germline mutation and 2 (1.8%) clinical HNPCC patients without identified MMR gene mutation. Family history was critical in detecting 3 HNPCC patients with MMR germline mutation, and MSI testing with IHC staining for MLH1, MSH2 and MSH6 proteins was needed in the diagnosis of 2 HNPCC patients who were not clinical HNPCC or s-HNPCC, especially for MSH6 germline mutation.

Yoon SN ，Ku JL ，Shin YK ，Kim KH ，Choi JS ，Jang EJ ，Park HC ，Kim DW ，Kim MA ，Kim WH ，Lee TS ，Kim JW ，Park NH ，Song YS ，Kang SB ，Lee HP ，Jeong SY ，Park JG ... -  《-》

Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary non-polyposis colorectal cancer.

Caldés T ，Godino J ，Sanchez A ，Corbacho C ，De la Hoya M ，Lopez Asenjo J ，Saez C ，Sanz J ，Benito M ，Ramon Y Cajal S ，Diaz-Rubio E ... -  《ONCOLOGY REPORTS》

Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.

Sheng JQ ，Chan TL ，Chan YW ，Huang JS ，Chen JG ，Zhang MZ ，Guo XL ，Mu H ，Chan AS ，Li SR ，Yuen ST ，Leung SY ... -  《-》

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

Plaschke J ，Engel C ，Krüger S ，Holinski-Feder E ，Pagenstecher C ，Mangold E ，Moeslein G ，Schulmann K ，Gebert J ，von Knebel Doeberitz M ，Rüschoff J ，Loeffler M ，Schackert HK ... -  《JOURNAL OF CLINICAL ONCOLOGY》

The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer.

Malander S ，Rambech E ，Kristoffersson U ，Halvarsson B ，Ridderheim M ，Borg A ，Nilbert M ... -  《GYNECOLOGIC ONCOLOGY》