Individuals With Lynch Syndrome Have Similar Survival as the General Population, but Lower Than Family Members Without Lynch Syndrome

Daniel Karpati; Netherlands Foundation for Detection of Hereditary Tumours Collaborative Investigators; Maartje Nielsen; Anja Wagner; Sanne W. Bajwa-Ten Broeke; Fonnet E. Bleeker; Monique E. Van Leerdam

doi:10.1053/j.gastro.2024.12.032

Individuals With Lynch Syndrome Have Similar Survival as the General Population, but Lower Than Family Members Without Lynch Syndrome

Daniel Karpati, Netherlands Foundation for Detection of Hereditary Tumours Collaborative Investigators, Maartje Nielsen, Anja Wagner, Sanne W. Bajwa-Ten Broeke, Fonnet E. Bleeker, Monique E. Van Leerdam^*

^*Corresponding author for this work

Research output: Contribution to journal › Short survey › Academic › peer-review

Abstract

Lynch syndrome (LS) is a genetic condition caused by a pathogenic variant (PV) in 1 of the DNA mismatch repair genes. Despite cancer surveillance and prophylactic operations, mortality among individuals with LS may still be elevated due to surveillance noncompliance, missed lesions, and extracolonic, extraendometrial cancers. Individuals with a PV may also experience increased subjective beliefs of mortality risks, which can affect their life decisions and quality of life. This study estimated the objective and subjective mortality risks in individuals with LS.
We estimated objective mortality in a sample of 1030 PV-positive and 569 PV-negative individuals in the registry of the Netherlands Foundation for the Detection of Hereditary Tumors (Stichting Opsporing Erfelijke Tumoren [StOET]). These individuals started their lives with a 50% a priori probability of having inherited a PV and had not been diagnosed with cancer before undergoing genetic testing. The detailed approach of the StOET has been described elsewhere.
[...]

Original language	English
Pages (from-to)	991-993.e4
Number of pages	7
Journal	Gastroenterology
Volume	168
Issue number	5
DOIs	https://doi.org/10.1053/j.gastro.2024.12.032
Publication status	E-pub ahead of print - 11 Jan 2025

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10.1053/j.gastro.2024.12.032

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Karpati, D., Netherlands Foundation for Detection of Hereditary Tumours Collaborative Investigators, Nielsen, M., Wagner, A., Bajwa-Ten Broeke, S. W., Bleeker, F. E., & Van Leerdam, M. E. (2025). Individuals With Lynch Syndrome Have Similar Survival as the General Population, but Lower Than Family Members Without Lynch Syndrome. Gastroenterology, 168(5), 991-993.e4. Advance online publication. https://doi.org/10.1053/j.gastro.2024.12.032

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title = "Individuals With Lynch Syndrome Have Similar Survival as the General Population, but Lower Than Family Members Without Lynch Syndrome",

abstract = "Lynch syndrome (LS) is a genetic condition caused by a pathogenic variant (PV) in 1 of the DNA mismatch repair genes. Despite cancer surveillance and prophylactic operations, mortality among individuals with LS may still be elevated due to surveillance noncompliance, missed lesions, and extracolonic, extraendometrial cancers. Individuals with a PV may also experience increased subjective beliefs of mortality risks, which can affect their life decisions and quality of life. This study estimated the objective and subjective mortality risks in individuals with LS. We estimated objective mortality in a sample of 1030 PV-positive and 569 PV-negative individuals in the registry of the Netherlands Foundation for the Detection of Hereditary Tumors (Stichting Opsporing Erfelijke Tumoren [StOET]). These individuals started their lives with a 50% a priori probability of having inherited a PV and had not been diagnosed with cancer before undergoing genetic testing. The detailed approach of the StOET has been described elsewhere. [...]",

author = "Daniel Karpati and {Netherlands Foundation for Detection of Hereditary Tumours Collaborative Investigators} and Maartje Nielsen and Anja Wagner and {Bajwa-Ten Broeke}, {Sanne W.} and Bleeker, {Fonnet E.} and {Van Leerdam}, {Monique E.} and {van Hest}, {Liselotte P.} and Cornips, {Marie Claire A.} and Letteboer, {Tom G.W.} and Kets, {C. Marleen} and Eveline Blom",

year = "2025",

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doi = "10.1053/j.gastro.2024.12.032",

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Karpati, D, Netherlands Foundation for Detection of Hereditary Tumours Collaborative Investigators, Nielsen, M, Wagner, A, Bajwa-Ten Broeke, SW, Bleeker, FE & Van Leerdam, ME 2025, 'Individuals With Lynch Syndrome Have Similar Survival as the General Population, but Lower Than Family Members Without Lynch Syndrome', Gastroenterology, vol. 168, no. 5, pp. 991-993.e4. https://doi.org/10.1053/j.gastro.2024.12.032

Individuals With Lynch Syndrome Have Similar Survival as the General Population, but Lower Than Family Members Without Lynch Syndrome. / Karpati, Daniel; Netherlands Foundation for Detection of Hereditary Tumours Collaborative Investigators; Nielsen, Maartje et al.
In: Gastroenterology, Vol. 168, No. 5, 11.01.2025, p. 991-993.e4.

Research output: Contribution to journal › Short survey › Academic › peer-review

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T1 - Individuals With Lynch Syndrome Have Similar Survival as the General Population, but Lower Than Family Members Without Lynch Syndrome

AU - Karpati, Daniel

AU - Netherlands Foundation for Detection of Hereditary Tumours Collaborative Investigators

AU - Nielsen, Maartje

AU - Wagner, Anja

AU - Bajwa-Ten Broeke, Sanne W.

AU - Bleeker, Fonnet E.

AU - Van Leerdam, Monique E.

AU - van Hest, Liselotte P.

AU - Cornips, Marie Claire A.

AU - Letteboer, Tom G.W.

AU - Kets, C. Marleen

AU - Blom, Eveline

PY - 2025/1/11

Y1 - 2025/1/11

N2 - Lynch syndrome (LS) is a genetic condition caused by a pathogenic variant (PV) in 1 of the DNA mismatch repair genes. Despite cancer surveillance and prophylactic operations, mortality among individuals with LS may still be elevated due to surveillance noncompliance, missed lesions, and extracolonic, extraendometrial cancers. Individuals with a PV may also experience increased subjective beliefs of mortality risks, which can affect their life decisions and quality of life. This study estimated the objective and subjective mortality risks in individuals with LS. We estimated objective mortality in a sample of 1030 PV-positive and 569 PV-negative individuals in the registry of the Netherlands Foundation for the Detection of Hereditary Tumors (Stichting Opsporing Erfelijke Tumoren [StOET]). These individuals started their lives with a 50% a priori probability of having inherited a PV and had not been diagnosed with cancer before undergoing genetic testing. The detailed approach of the StOET has been described elsewhere. [...]

AB - Lynch syndrome (LS) is a genetic condition caused by a pathogenic variant (PV) in 1 of the DNA mismatch repair genes. Despite cancer surveillance and prophylactic operations, mortality among individuals with LS may still be elevated due to surveillance noncompliance, missed lesions, and extracolonic, extraendometrial cancers. Individuals with a PV may also experience increased subjective beliefs of mortality risks, which can affect their life decisions and quality of life. This study estimated the objective and subjective mortality risks in individuals with LS. We estimated objective mortality in a sample of 1030 PV-positive and 569 PV-negative individuals in the registry of the Netherlands Foundation for the Detection of Hereditary Tumors (Stichting Opsporing Erfelijke Tumoren [StOET]). These individuals started their lives with a 50% a priori probability of having inherited a PV and had not been diagnosed with cancer before undergoing genetic testing. The detailed approach of the StOET has been described elsewhere. [...]

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Karpati D, Netherlands Foundation for Detection of Hereditary Tumours Collaborative Investigators, Nielsen M, Wagner A, Bajwa-Ten Broeke SW, Bleeker FE et al. Individuals With Lynch Syndrome Have Similar Survival as the General Population, but Lower Than Family Members Without Lynch Syndrome. Gastroenterology. 2025 Jan 11;168(5):991-993.e4. Epub 2025 Jan 11. doi: 10.1053/j.gastro.2024.12.032

Individuals With Lynch Syndrome Have Similar Survival as the General Population, but Lower Than Family Members Without Lynch Syndrome

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