Suspected HNPCC and Amsterdam criteria II: Evaluation of mutation detection rate, an international collaborative study

Jae Gahb Park, Hans F A Vasen, Young Jin Park, Kyu Joo Park, Paivi Peltomaki, Maurizio Ponzo de Leon, Miguel A. Rodriguez-Bigas, Jan Lubinski, Nicholas E. Beck, Marie Luise Bisgaard, Michiko Miyaki, Juul T. Wijnen, Shozo Baba, Annika Lindblom, Lisa Madlensky, Henry T. Lynch

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Abstract

Background and aims: The Korean Hereditary Tumor Registry has proposed criteria for suspected hereditary nonpolyposis colorectal cancer (S-HNPCC criteria I and II) and confirmed their validity in an international collaborative study. The S-HNPCC criteria included families that did not fulfill the Amsterdam criteria, but in whom HNPCC was nevertheless strongly suspected. The S-HNPCC criteria was also revised accordingly since some S-HNPCC families now fullfil the revised Amsterdam criteria. The original Amsterdam criteria have recently been revised, including some extracolonic cancers. This study compared the mutation detection rates between the revised and previous Amsterdam and S-HNPCC criteria. Patients and methods: Data on the mutational status of 393 HNPCC suspected families were collected from ten different institutes. Two hundred families were categorized into old S-HNPCC criteria (142 into criteria I and 58 into criteria II) and 193 families into Amsterdam criteria I. Results: Of the 142 old S-HNPCC criteria I families 24 fulfilled the Amsterdam criteria II as the data were reclassified according to the revised criteria, increasing the proportion of the families fulfilling the Amsterdam criteria by 12.4%. The mutation detection rate of the revised criteria was very little changed compared to the old criteria; 26% and 27% in the S-HNPCC criteria, and 50% and 52% in the Amsterdam criteria. Conclusion: The mutation detection rate is hardly affected by the revision of the Amsterdam criteria although the population of patients fulfilling the criteria is increased. The value of revised S-HNPCC criteria is equivalent to that of as the old S-HNPCC criteria in selecting of candidate patients for genetic testing.

Original languageEnglish
Pages (from-to)109-114
Number of pages6
JournalInternational Journal of Colorectal Disease
Volume17
Issue number2
DOIs
StatePublished - 2002

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Mutation Rate
Hereditary Nonpolyposis Colorectal Neoplasms
Genetic Testing
Registries
Neoplasms
Population

All Science Journal Classification (ASJC) codes

  • Gastroenterology

Cite this

Suspected HNPCC and Amsterdam criteria II : Evaluation of mutation detection rate, an international collaborative study. / Park, Jae Gahb; Vasen, Hans F A; Park, Young Jin; Park, Kyu Joo; Peltomaki, Paivi; Ponzo de Leon, Maurizio; Rodriguez-Bigas, Miguel A.; Lubinski, Jan; Beck, Nicholas E.; Bisgaard, Marie Luise; Miyaki, Michiko; Wijnen, Juul T.; Baba, Shozo; Lindblom, Annika; Madlensky, Lisa; Lynch, Henry T.

In: International Journal of Colorectal Disease, Vol. 17, No. 2, 2002, p. 109-114.

Research output: Contribution to journalArticle

Park, JG, Vasen, HFA, Park, YJ, Park, KJ, Peltomaki, P, Ponzo de Leon, M, Rodriguez-Bigas, MA, Lubinski, J, Beck, NE, Bisgaard, ML, Miyaki, M, Wijnen, JT, Baba, S, Lindblom, A, Madlensky, L & Lynch, HT 2002, 'Suspected HNPCC and Amsterdam criteria II: Evaluation of mutation detection rate, an international collaborative study', International Journal of Colorectal Disease, vol. 17, no. 2, pp. 109-114. https://doi.org/10.1007/s003840100348
Park, Jae Gahb ; Vasen, Hans F A ; Park, Young Jin ; Park, Kyu Joo ; Peltomaki, Paivi ; Ponzo de Leon, Maurizio ; Rodriguez-Bigas, Miguel A. ; Lubinski, Jan ; Beck, Nicholas E. ; Bisgaard, Marie Luise ; Miyaki, Michiko ; Wijnen, Juul T. ; Baba, Shozo ; Lindblom, Annika ; Madlensky, Lisa ; Lynch, Henry T. / Suspected HNPCC and Amsterdam criteria II : Evaluation of mutation detection rate, an international collaborative study. In: International Journal of Colorectal Disease. 2002 ; Vol. 17, No. 2. pp. 109-114.
@article{af89766597ad41b0b3f28d2d02a04d0e,
title = "Suspected HNPCC and Amsterdam criteria II: Evaluation of mutation detection rate, an international collaborative study",
abstract = "Background and aims: The Korean Hereditary Tumor Registry has proposed criteria for suspected hereditary nonpolyposis colorectal cancer (S-HNPCC criteria I and II) and confirmed their validity in an international collaborative study. The S-HNPCC criteria included families that did not fulfill the Amsterdam criteria, but in whom HNPCC was nevertheless strongly suspected. The S-HNPCC criteria was also revised accordingly since some S-HNPCC families now fullfil the revised Amsterdam criteria. The original Amsterdam criteria have recently been revised, including some extracolonic cancers. This study compared the mutation detection rates between the revised and previous Amsterdam and S-HNPCC criteria. Patients and methods: Data on the mutational status of 393 HNPCC suspected families were collected from ten different institutes. Two hundred families were categorized into old S-HNPCC criteria (142 into criteria I and 58 into criteria II) and 193 families into Amsterdam criteria I. Results: Of the 142 old S-HNPCC criteria I families 24 fulfilled the Amsterdam criteria II as the data were reclassified according to the revised criteria, increasing the proportion of the families fulfilling the Amsterdam criteria by 12.4{\%}. The mutation detection rate of the revised criteria was very little changed compared to the old criteria; 26{\%} and 27{\%} in the S-HNPCC criteria, and 50{\%} and 52{\%} in the Amsterdam criteria. Conclusion: The mutation detection rate is hardly affected by the revision of the Amsterdam criteria although the population of patients fulfilling the criteria is increased. The value of revised S-HNPCC criteria is equivalent to that of as the old S-HNPCC criteria in selecting of candidate patients for genetic testing.",
author = "Park, {Jae Gahb} and Vasen, {Hans F A} and Park, {Young Jin} and Park, {Kyu Joo} and Paivi Peltomaki and {Ponzo de Leon}, Maurizio and Rodriguez-Bigas, {Miguel A.} and Jan Lubinski and Beck, {Nicholas E.} and Bisgaard, {Marie Luise} and Michiko Miyaki and Wijnen, {Juul T.} and Shozo Baba and Annika Lindblom and Lisa Madlensky and Lynch, {Henry T.}",
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TY - JOUR

T1 - Suspected HNPCC and Amsterdam criteria II

T2 - Evaluation of mutation detection rate, an international collaborative study

AU - Park, Jae Gahb

AU - Vasen, Hans F A

AU - Park, Young Jin

AU - Park, Kyu Joo

AU - Peltomaki, Paivi

AU - Ponzo de Leon, Maurizio

AU - Rodriguez-Bigas, Miguel A.

AU - Lubinski, Jan

AU - Beck, Nicholas E.

AU - Bisgaard, Marie Luise

AU - Miyaki, Michiko

AU - Wijnen, Juul T.

AU - Baba, Shozo

AU - Lindblom, Annika

AU - Madlensky, Lisa

AU - Lynch, Henry T.

PY - 2002

Y1 - 2002

N2 - Background and aims: The Korean Hereditary Tumor Registry has proposed criteria for suspected hereditary nonpolyposis colorectal cancer (S-HNPCC criteria I and II) and confirmed their validity in an international collaborative study. The S-HNPCC criteria included families that did not fulfill the Amsterdam criteria, but in whom HNPCC was nevertheless strongly suspected. The S-HNPCC criteria was also revised accordingly since some S-HNPCC families now fullfil the revised Amsterdam criteria. The original Amsterdam criteria have recently been revised, including some extracolonic cancers. This study compared the mutation detection rates between the revised and previous Amsterdam and S-HNPCC criteria. Patients and methods: Data on the mutational status of 393 HNPCC suspected families were collected from ten different institutes. Two hundred families were categorized into old S-HNPCC criteria (142 into criteria I and 58 into criteria II) and 193 families into Amsterdam criteria I. Results: Of the 142 old S-HNPCC criteria I families 24 fulfilled the Amsterdam criteria II as the data were reclassified according to the revised criteria, increasing the proportion of the families fulfilling the Amsterdam criteria by 12.4%. The mutation detection rate of the revised criteria was very little changed compared to the old criteria; 26% and 27% in the S-HNPCC criteria, and 50% and 52% in the Amsterdam criteria. Conclusion: The mutation detection rate is hardly affected by the revision of the Amsterdam criteria although the population of patients fulfilling the criteria is increased. The value of revised S-HNPCC criteria is equivalent to that of as the old S-HNPCC criteria in selecting of candidate patients for genetic testing.

AB - Background and aims: The Korean Hereditary Tumor Registry has proposed criteria for suspected hereditary nonpolyposis colorectal cancer (S-HNPCC criteria I and II) and confirmed their validity in an international collaborative study. The S-HNPCC criteria included families that did not fulfill the Amsterdam criteria, but in whom HNPCC was nevertheless strongly suspected. The S-HNPCC criteria was also revised accordingly since some S-HNPCC families now fullfil the revised Amsterdam criteria. The original Amsterdam criteria have recently been revised, including some extracolonic cancers. This study compared the mutation detection rates between the revised and previous Amsterdam and S-HNPCC criteria. Patients and methods: Data on the mutational status of 393 HNPCC suspected families were collected from ten different institutes. Two hundred families were categorized into old S-HNPCC criteria (142 into criteria I and 58 into criteria II) and 193 families into Amsterdam criteria I. Results: Of the 142 old S-HNPCC criteria I families 24 fulfilled the Amsterdam criteria II as the data were reclassified according to the revised criteria, increasing the proportion of the families fulfilling the Amsterdam criteria by 12.4%. The mutation detection rate of the revised criteria was very little changed compared to the old criteria; 26% and 27% in the S-HNPCC criteria, and 50% and 52% in the Amsterdam criteria. Conclusion: The mutation detection rate is hardly affected by the revision of the Amsterdam criteria although the population of patients fulfilling the criteria is increased. The value of revised S-HNPCC criteria is equivalent to that of as the old S-HNPCC criteria in selecting of candidate patients for genetic testing.

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