BACKGROUND: Hereditary non-polyposis colorectal cancer (HNPCC) is characterized genetically by germline mutations in DNA mismatch repair (MMR) genes. Immunohistochemistry (IHC) has high sensitivity and specificity for identifying MMR-deficient tumours. This study investigated the clinical presentations and frequency of HNPCC in Taiwan by combined Amsterdam II criteria (AC-II) and IHC. METHODS: In 1995-2003, 7108 patients with primary colorectal cancer registered in Chang Gung Memorial Hospital's Colorectal Cancer Registry were screened using AC-II. Tumour specimens were analysed for MMR protein expression by IHC, and relevant clinicopathological details were documented. RESULTS: Some 83 patients fulfilled the AC-II. Clinicopathologically, 43 patients (52 per cent) had proximal tumours, ten (12 per cent) had poorly differentiated cancers, 17 (20 per cent) had mucinous adenocarcinoma and 51 (61 per cent) had stage I-II tumours. Seventeen patients developed second primary colonic and extracolonic cancers over a mean 7.2-year follow-up. Immunohistochemically, 58 patients were MMR protein deficient. They had a significantly earlier age of onset (P < 0.001), more proximal tumour location (P = 0.002), less advanced tumour stage (P = 0.008) and more second primary cancers (P = 0.017) compared with MMR-competent patients. CONCLUSION: These data show significant differences in clinical features between MMR protein-deficient and MMR competent subgroups. Copyright (c) 2007 British Journal of Surgery Society Ltd.
BACKGROUND: Hereditary non-polyposis colorectal cancer (HNPCC) is characterized genetically by germline mutations in DNA mismatch repair (MMR) genes. Immunohistochemistry (IHC) has high sensitivity and specificity for identifying MMR-deficient tumours. This study investigated the clinical presentations and frequency of HNPCC in Taiwan by combined Amsterdam II criteria (AC-II) and IHC. METHODS: In 1995-2003, 7108 patients with primary colorectal cancer registered in Chang Gung Memorial Hospital's Colorectal Cancer Registry were screened using AC-II. Tumour specimens were analysed for MMR protein expression by IHC, and relevant clinicopathological details were documented. RESULTS: Some 83 patients fulfilled the AC-II. Clinicopathologically, 43 patients (52 per cent) had proximal tumours, ten (12 per cent) had poorly differentiated cancers, 17 (20 per cent) had mucinous adenocarcinoma and 51 (61 per cent) had stage I-II tumours. Seventeen patients developed second primary colonic and extracolonic cancers over a mean 7.2-year follow-up. Immunohistochemically, 58 patients were MMR protein deficient. They had a significantly earlier age of onset (P < 0.001), more proximal tumour location (P = 0.002), less advanced tumour stage (P = 0.008) and more second primary cancers (P = 0.017) compared with MMR-competent patients. CONCLUSION: These data show significant differences in clinical features between MMR protein-deficient and MMR competent subgroups. Copyright (c) 2007 British Journal of Surgery Society Ltd.
Authors: Wilfredo E De Jesus-Monge; Carmen Gonzalez-Keelan; Ronghua Zhao; Stanley R Hamilton; Miguel Rodriguez-Bigas; Marcia Cruz-Correa Journal: Fam Cancer Date: 2010-06 Impact factor: 2.375
Authors: S Shiovitz; W K Copeland; M N Passarelli; A N Burnett-Hartman; W M Grady; J D Potter; S Gallinger; D D Buchanan; C Rosty; A K Win; M Jenkins; S N Thibodeau; R Haile; J A Baron; L L Marchand; P A Newcomb; N M Lindor Journal: Br J Cancer Date: 2014-06-10 Impact factor: 7.640