An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
| Autor: | Inbal Kedar, Christi J. van Asperen, Jeanine J. Houwing-Duistermaat, Laurence Brugières, Sergey Nikolaev, Michael Farrell, Anja Wagner, D. Gareth Evans, Lone Sunde, Yael Goldberg, Mar Rodríguez-Girondo, Jessica I. Hoell, Katharina Wimmer, Karl Heinimann, Stefan Aretz, Maartje Nielsen, Heleen M. van der Klift, Maria Grazia Tibiletti, Tim Ripperger, Leigha Senter, Sanne W. ten Broeke, Wenche Sjursen, Encarna B. Gomez-Garcia, Stefanie Y. Zimmermann, Daniel Rueda, Marjolijn C.J. Jongmans, Noémie Lavoine, Ingrid Winship, Christina Therkildsen, Gabriel Capellá Munar, Chrystelle Colas, Alison H. Trainer, Kory Jasperson, Maurizio Genuardi, Theo A. M. van Os, Yvonne J. Vos, Mitul Modi, Hans F. A. Vasen, Manon Suerink |
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| Přispěvatelé: | Suerink M., Rodriguez-Girondo M., van der Klift H.M., Colas C., Brugieres L., Lavoine N., Jongmans M., Munar G.C., Evans D.G., Farrell M.P., Genuardi M., Goldberg Y., Gomez-Garcia E., Heinimann K., Hoell J.I., Aretz S., Jasperson K.W., Kedar I., Modi M.B., Nikolaev S., van Os T.A.M., Ripperger T., Rueda D., Senter L., Sjursen W., Sunde L., Therkildsen C., Tibiletti M.G., Trainer A.H., Vos Y.J., Wagner A., Winship I., Wimmer K., Zimmermann S.Y., Vasen H.F., van Asperen C.J., Houwing-Duistermaat J.J., ten Broeke S.W., Nielsen M., Human Genetics, Clinical Genetics, Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Male
Oncology MICROSATELLITE INSTABILITY Settore MED/03 - GENETICA MEDICA PHENOTYPE FAMILIES Cohort Studies Risk Factors PMS2 CRITERIA Genetics(clinical) Genetics (clinical) Mismatch Repair Endonuclease PMS2 Incidence Incidence (epidemiology) DNA MISMATCH REPAIR GERMLINE MUTATIONS Middle Aged Lynch syndrome DNA-Binding Proteins Cohort colon cancer risk Female Colorectal Neoplasms bMMRD Cohort study Adult medicine.medical_specialty HNPCC colorectal cancer FREQUENCY Risk Assessment BREAST AGE SDG 3 - Good Health and Well-being Internal medicine SURVEILLANCE medicine Humans Genetic Predisposition to Disease Germ-Line Mutation Aged business.industry Microsatellite instability MSH6 medicine.disease Colorectal Neoplasms Hereditary Nonpolyposis Confidence interval Mutation business |
| Zdroj: | Suerink, M, Rodríguez-Girondo, M, van der Klift, H M, Colas, C, Brugieres, L, Lavoine, N, Jongmans, M, Munar, G C, Evans, D G, Farrell, M P, Genuardi, M, Goldberg, Y, Gomez-Garcia, E, Heinimann, K, Hoell, J I, Aretz, S, Jasperson, K W, Kedar, I, Modi, M B, Nikolaev, S, van Os, T A M, Ripperger, T, Rueda, D, Senter, L, Sjursen, W, Sunde, L, Therkildsen, C, Tibiletti, M G, Trainer, A H, Vos, Y J, Wagner, A, Winship, I, Wimmer, K, Zimmermann, S Y, Vasen, H F, van Asperen, C J, Houwing-Duistermaat, J J, Ten Broeke, S W & Nielsen, M 2019, ' An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome ', Genetics in Medicine, vol. 21, no. 12, pp. 2706-2712 . https://doi.org/10.1038/s41436-019-0577-z Evans, D G & et al. 2019, ' An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0577-z Genetics in Medicine Genetics in Medicine, 21, 2706. Lippincott Williams and Wilkins Genetics in Medicine, 21(12), 2706-2712. Nature Publishing Group Genetics in medicine. Lippincott Williams and Wilkins Genetics in Medicine, 21(12), 2706-2712. Lippincott Williams & Wilkins Genetics in Medicine, 21(12), 2706-2712 |
| ISSN: | 1098-3600 |
| Popis: | Purpose: Biallelic pathogenic variants in the mismatch repair (MMR) genes cause a recessive childhood cancer predisposition syndrome known as constitutional mismatch repair deficiency (CMMRD). Family members with a heterozygous MMR variant have Lynch syndrome. We aimed at estimating cancer risk in these heterozygous carriers as a novel approach to avoid complicated statistical methods to correct for ascertainment bias.Methods: Cumulative colorectal cancer incidence was estimated in a cohort of PMS2- and MSH6-associated families, ascertained by the CMMRD phenotype of the index, by using mutation probabilities based on kinship coefficients as analytical weights in a proportional hazard regression on the cause-specific hazards. Confidence intervals (CIs) were obtained by bootstrapping at the family level.Results: The estimated cumulative colorectal cancer risk at age 70 years for heterozygous PMS2 variant carriers was 8.7% (95% CI 4.3-12.7%) for both sexes combined, and 9.9% (95% CI 4.9-15.3%) for men and 5.9% (95% CI 1.6-11.1%) for women separately. For heterozygous MSH6 variant carriers these estimates are 11.8% (95% CI 4.5-22.7%) for both sexes combined, 10.0% (95% CI 1.83-24.5%) for men and 11.7% (95% CI 2.10-26.5%) for women.Conclusion: Our findings are consistent with previous reports that used more complex statistical methods to correct for ascertainment bias. These results underline the need for MMR gene-specific surveillance protocols for Lynch syndrome. |
| Databáze: | OpenAIRE |
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