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Hereditary nonpolyposis colorectal cancer in endometrial cancer patients
Author(s) -
Yoon Sang Nam,
Ku JaLok,
Shin YoungKyoung,
Kim KyungHee,
Choi JinSung,
Jang EunJa,
Park HyoungChul,
Kim DuckWoo,
Kim Min A.,
Kim Woo Ho,
Lee Taek Sang,
Kim Jae Weon,
Park NohHyun,
Song YongSang,
Kang SoonBeom,
Lee HyoPyo,
Jeong SeungYong,
Park JaeGahb
Publication year - 2007
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/ijc.22986
Subject(s) - msh6 , mlh1 , msh2 , endometrial cancer , microsatellite instability , medicine , germline mutation , lynch syndrome , oncology , cancer , colorectal cancer , cancer research , gynecology , dna mismatch repair , mutation , biology , genetics , allele , microsatellite , gene
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. © 2007 Wiley‐Liss, Inc.