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

Timshel, Susanne; Therkildsen, Christina; Bendahl, Pär-Ola LU ; Bernstein, Inge and Nilbert, Mef LU (2009) In Cancer Epidemiology2009-01-01+01:00 33(3-4). p.231-234
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Anticipation, Endometrial cancer, Colorectal cancer, Hereditary cancer, HNPCC
in
Cancer Epidemiology2009-01-01+01:00
volume
33
issue
3-4
pages
231 - 234
publisher
Elsevier
external identifiers
  • wos:000271784200011
  • scopus:70349753468
ISSN
1877-7821
DOI
10.1016/j.canep.2009.06.007
language
English
LU publication?
yes
id
4ef20cea-3771-44b2-a9cf-b466dafb2a71 (old id 1519578)
date added to LUP
2009-12-28 12:35:25
date last changed
2017-01-01 04:33:47
@article{4ef20cea-3771-44b2-a9cf-b466dafb2a71,
  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 &lt; 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.},
  author       = {Timshel, Susanne and Therkildsen, Christina and Bendahl, Pär-Ola and Bernstein, Inge and Nilbert, Mef},
  issn         = {1877-7821},
  keyword      = {Anticipation,Endometrial cancer,Colorectal cancer,Hereditary cancer,HNPCC},
  language     = {eng},
  number       = {3-4},
  pages        = {231--234},
  publisher    = {Elsevier},
  series       = {Cancer Epidemiology2009-01-01+01:00},
  title        = {An effect from anticipation also in hereditary nonpolyposis colorectal cancer families without identified mutations},
  url          = {http://dx.doi.org/10.1016/j.canep.2009.06.007},
  volume       = {33},
  year         = {2009},
}