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

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@article{b73f7277aa074d76b22e196993c49ed7,
title = "An effect from anticipation also in hereditary nonpolyposis colorectal cancer families without identified mutations",
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.",
author = "Susanne Timshel and Christina Therkildsen and P{\"a}r-Ola Bendahl and Inge Bernstein and Mef Nilbert",
year = "2009",
doi = "10.1016/j.canep.2009.06.007",
language = "English",
volume = "33",
pages = "231--4",
journal = "Cancer Epidemiology",
issn = "1877-7821",
publisher = "Elsevier Inc",
number = "3-4",

}

RIS

TY - JOUR

T1 - An effect from anticipation also in hereditary nonpolyposis colorectal cancer families without identified mutations

AU - Timshel, Susanne

AU - Therkildsen, Christina

AU - Bendahl, Pär-Ola

AU - Bernstein, Inge

AU - Nilbert, Mef

PY - 2009

Y1 - 2009

N2 - 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.

AB - 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.

U2 - 10.1016/j.canep.2009.06.007

DO - 10.1016/j.canep.2009.06.007

M3 - Journal article

VL - 33

SP - 231

EP - 234

JO - Cancer Epidemiology

JF - Cancer Epidemiology

SN - 1877-7821

IS - 3-4

ER -

ID: 32564870