BACKGROUND: Previous reports have indicated that 5-13 per cent of colorectal cancer is hereditary. However, the proportion of cases arising as a result of mutations in the hereditary non-polyposis colorectal cancer (HNPCC) genes remains to be determined. METHODS: This study is a part prospective, part retrospective review of all cases of colorectal cancer from a district hospital over 14 years. Some 1137 consecutive patients with colorectal cancer were questioned about their family history of cancer and details were logged on a database. For the past 4 years each case has been re-evaluated where possible. RESULTS: Some 118 patients indicated initially that they had a first-degree relative with colorectal cancer, but on re-evaluation there were significant discrepancies. Only three cases (0.3 per cent) occurred in families which strictly fulfilled the criteria for HNPCC and there were no cases of familial adenomatous polyposis. A total of 16 patients (1.4 per cent) fulfilled looser criteria for HNPCC. CONCLUSION: This population-based study has shown a lower frequency of familial bowel cancer than previous studies and may reflect a lower incidence of inherited mutations in the HNPCC DNA mismatch repair genes than is currently accepted.
BACKGROUND: Previous reports have indicated that 5-13 per cent of colorectal cancer is hereditary. However, the proportion of cases arising as a result of mutations in the hereditary non-polyposis colorectal cancer (HNPCC) genes remains to be determined. METHODS: This study is a part prospective, part retrospective review of all cases of colorectal cancer from a district hospital over 14 years. Some 1137 consecutive patients with colorectal cancer were questioned about their family history of cancer and details were logged on a database. For the past 4 years each case has been re-evaluated where possible. RESULTS: Some 118 patients indicated initially that they had a first-degree relative with colorectal cancer, but on re-evaluation there were significant discrepancies. Only three cases (0.3 per cent) occurred in families which strictly fulfilled the criteria for HNPCC and there were no cases of familial adenomatous polyposis. A total of 16 patients (1.4 per cent) fulfilled looser criteria for HNPCC. CONCLUSION: This population-based study has shown a lower frequency of familial bowel cancer than previous studies and may reflect a lower incidence of inherited mutations in the HNPCC DNA mismatch repair genes than is currently accepted.
Authors: E Urso; M Agostini; S Pucciarelli; M Rugge; R Bertorelle; I Maretto; C Bedin; E D'Angelo; C Mescoli; M Zorzi; A Viel; G Bruttocao; B Ferraro; F Erroi; P Contin; G L De Salvo; D Nitti Journal: Tumour Biol Date: 2012-01-26
Authors: Asad Umar; C Richard Boland; Jonathan P Terdiman; Sapna Syngal; Albert de la Chapelle; Josef Rüschoff; Richard Fishel; Noralane M Lindor; Lawrence J Burgart; Richard Hamelin; Stanley R Hamilton; Robert A Hiatt; Jeremy Jass; Annika Lindblom; Henry T Lynch; Païvi Peltomaki; Scott D Ramsey; Miguel A Rodriguez-Bigas; Hans F A Vasen; Ernest T Hawk; J Carl Barrett; Andrew N Freedman; Sudhir Srivastava Journal: J Natl Cancer Inst Date: 2004-02-18 Impact factor: 13.506
Authors: Annegret Müller; Dirk Zielinski; Nicolaus Friedrichs; Barbara Oberschmid; Sabine Merkelbach-Bruse; Hans K Schackert; Markus Linnebacher; Magnus von Knebel Doeberitz; Reinhard Büttner; Josef Rüschoff Journal: Virchows Arch Date: 2008-06-26 Impact factor: 4.064
Authors: Gillian Smith; Francis A Carey; Julie Beattie; Murray J V Wilkie; Tracy J Lightfoot; Jonathan Coxhead; R Colin Garner; Robert J C Steele; C Roland Wolf Journal: Proc Natl Acad Sci U S A Date: 2002-07-01 Impact factor: 11.205
Authors: Karin M Landsbergen; Judith B Prins; Han G Brunner; Floris W Kraaimaat; Nicoline Hoogerbrugge Journal: Fam Cancer Date: 2009-03-28 Impact factor: 2.375