An effect from anticipation also in hereditary nonpolyposis colorectal cancer families without identified mutations

Susanne Timshel, Christina Therkildsen, Pär-Ola Bendahl, Inge Bernstein, Mef Nilbert

Research output: Contribution to journalArticlepeer-review

4 Citations (SciVal)

Abstract

Optimal prevention of hereditary cancer is central and requires initiation of surveillance programmes and/or prophylactic measures at a safe age. Anticipation, expressed as an earlier age at onset in successive generations, has been demonstrated in hereditary nonpolyposis colorectal cancer (HNPCC). We specifically addressed anticipation in phenotypic HNPCC families without disease-predisposing mismatch repair (MMR) defects since risk estimates and age at onset are particularly difficult to determine in this cohort. The national Danish HNPCC register was used to identify families who fulfilled the Amsterdam criteria for HNPCC and showed normal MMR function and/or lack of disease-predisposing MMR gene mutation. In total, 319 cancers from 212 parent-child pairs in 99 families were identified. A paired t-test and a bivariate statistical model were used to assess anticipation. Both methods demonstrated an effect from anticipation with cancer diagnosed mean 11.4 years (t-test, p < 0.0001) and mean 5.9 (bivariate model, p = 0.02) years earlier in children than in parents. This observation suggests that anticipation may apply also to families without identified mutations and serves as a reminder to initiate surveillance programmes at young age also in HNPCC families with undefined genetic causes. (C) 2009 Elsevier Ltd. All rights reserved.
Original languageEnglish
Pages (from-to)231-234
JournalCancer Epidemiology
Volume33
Issue number3-4
DOIs
Publication statusPublished - 2009

Subject classification (UKÄ)

  • Cancer and Oncology

Keywords

  • Anticipation
  • Endometrial cancer
  • Colorectal cancer
  • Hereditary cancer
  • HNPCC

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