Výsledky vyhledávání - "Celine H. Leenen"

Genetic testing for Lynch syndrome: family communication and motivation

Autor: Conny A. van der Meer, Mariska den Heijer, Celine H. Leenen, Monique E. van Leerdam, Ernst J. Kuipers, Anja Wagner

Publikováno v: Familial Cancer, 15(1), 63-73. Springer Netherlands
Familial Cancer

Current genetic counselling practice for Lynch syndrome (LS) relies on diagnosed index patients to inform their biological family about LS, referred to as the family-mediated approach. The objective of this study was to evaluate this approach and to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcaa51152bc7a0c5c202bfe7f170a58f
https://doi.org/10.1007/s10689-015-9842-8

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Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers

Autor: Hein F.B.M. Sleddens, Anja Wagner, Monique E. van Leerdam, Isabelle C. Meijssen, Willemina R. R. Geurts-Giele, Anne Goverde, Winand N.M. Dinjens, Ewout W. Steyerberg, Hendrikus J. Dubbink, Edward Post, Ans M.W. van den Ouweland, Celine H. Leenen, Ernst J. Kuipers, Margot G. van Lier

Publikováno v: The Journal of Pathology. 234:548-559

Lynch syndrome (LS) is caused by germline mutations in mismatch repair (MMR) genes, resulting in microsatellite-unstable tumours. Approximately 35% of suspected LS (sLS) patients test negative for germline MMR gene mutations, hampering conclusive LS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ef726427f2309a8e394d9ed0d01e285c
https://doi.org/10.1002/path.4419

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Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years

Autor: Monique E. van Leerdam, Helena C. van Doorn, Celine H. Leenen, Ans M.W. van den Ouweland, Sanne M. Hulspas, Winand N.M. Dinjens, Robert F. Hoedemaeker, Ernst J. Kuipers, Judith de Waard, Ewout W. Steyerberg, Hendrikus J. Dubbink, Anja Wagner, Margot G. van Lier, Sjarlot G. Kooi

Publikováno v: Gynecologic Oncology, 125(2), 414-420. Academic Press

Objective Lynch syndrome (LS) is a hereditary syndrome that predisposes to multiple malignancies including endometrial cancer (EC). We aimed to evaluate a diagnostic strategy for LS based on routine analysis of microsatellite instability (MSI) and im

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f020152004a5c4e8c21fcff03abbc5cb
https://doi.org/10.1016/j.ygyno.2012.01.049

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Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome

Autor: Eelco J. R. de Graaf, Celine H. Leenen, Anja Wagner, Monique E. van Leerdam, Pieter J. Westenend, Ernst J. Kuipers, Dewkoemar Ramsoekh, W. W. Vrijland, Hendrikus J. Dubbink, Ewout W. Steyerberg, L. M. M. Wolters, Winand N.M. Dinjens, Ans M.W. van den Ouweland, Margot G. van Lier

Publikováno v: The Journal of Pathology. 226:764-774

Although early detection of Lynch syndrome (LS) is important, a considerable proportion of patients with LS remains unrecognized. We aimed to study the yield of LS detection by routine molecular analyses in colorectal cancer (CRC) patients until 70 y

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ff53c5875f515ba4cf2f50d6e60f1282
https://doi.org/10.1002/path.3963

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Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations

Autor: A. M. W. Van Den Ouweland, M E van Leerdam, Carli M. J. Tops, Anja Wagner, Celine H. Leenen, W. Dinjens, Hendrikus J. Dubbink, E. J. Kuipers, Willemina R. R. Geurts-Giele, R. Reddingius, H.M. van de Klift

Publikováno v: Clinical Genetics, 80(6), 558-565
Clinical Genetics, 80(6), 558-565. Wiley-Blackwell Publishing Ltd

Heterozygous germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause Lynch syndrome. Biallelic mutations in the MMR genes are associated with a childhood cancer syndrome [constitutional mismatch repair-deficiency (CMMR-D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcb3bb121053cdd69d378bd389f1fd3a
https://pubmed.ncbi.nlm.nih.gov/21204794

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Su1818 Barriers to Genetic Testing for Lynch Syndrome

Autor: Ernst J. Kuipers, Monique E. van Leerdam, Celine H. Leenen, Reinier Timman, Conny A. van der Meer, Anja Wagner

Publikováno v: Gastroenterology. 142:S-511

Background: The success of pancreatic cancer (PC) surveillance depends to a large extent on the commitment of participants to adhere to the repeated follow-up investigations. Though the results of our recently conducted retrospective study showed tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8011dbe1ecf13ebcc5d177ba2e7da62e
https://doi.org/10.1016/s0016-5085(12)61959-3

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