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Akademický článek

Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome

Autor: Ane J. Schei-Andersen, Bart van Oirschot, Meggie M.C.M. Drissen, Jolanda Schieving, Janneke H.M. Schuurs-Hoeijmakers, Janet R. Vos, Claire M. Barton, Nicoline Hoogerbrugge

Publikováno v: International Dental Journal, Vol 74, Iss 6, Pp 1424-1431 (2024)

Aims: Patients with PTEN hamartoma tumour syndrome (PHTS) have an increased risk of developing cancer due to a pathogenic germline variant in the PTEN tumour suppressor gene. Early recognition of PHTS facilitates initiation of cancer surveillance whi

Externí odkaz: https://doaj.org/article/44d12c677a194939a3a37bde7d23ca3b

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Akademický článek

Universal genetic assessment for women with ovarian cancer not yet achieved: The promises of universal tumor DNA testing

Autor: Vera M. Witjes, Janet R. Vos, Marjolijn J.L. Ligtenberg, Nicoline Hoogerbrugge

Publikováno v: Gynecologic Oncology Reports, Vol 38, Iss , Pp 100825- (2021)

Externí odkaz: https://doaj.org/article/244604906aaf4802a9832a1a7d01fdeb

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Akademický článek

Parelsnoer Institute Biobank Hereditary Colorectal Cancer: A Joint Infrastructure for Patient Data and Biomaterial on Hereditary Colorectal Cancer in the Netherlands

Autor: Peggy Manders, Janet R. Vos, Richarda M. de Voer, Liselot P. van Hest, Rolf Sijmons, Chantal V. Hoge, Fokke G. Terpstra, Manon C. Spaander, Wilma E. Mesker, Evelien Dekker, Nicoline Hoogerbrugge, on behalf of the Biobank Hereditary Colorectal Cancer

Publikováno v: Open Journal of Bioresources, Vol 6 (2019)

Each year approximately 15,000 patients are diagnosed with colorectal cancer (CRC) in the Netherlands, of whom 5–10% are associated with a hereditary syndrome. To enable future research into hereditary CRC, we established a collaborative biobank fo

Externí odkaz: https://doaj.org/article/91efb0d449544450a9dbff556c8309b6

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The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome

Autor: Alma Hoxhaj, Meggie M.C.M. Drissen, Janet R. Vos, Peter Bult, Ritse M. Mann, Nicoline Hoogerbrugge

Publikováno v: Cancer, 128, 2883-2891
Cancer, 128, 15, pp. 2883-2891

Contains fulltext : 287842.pdf (Publisher’s version ) (Open Access) Background Women with PTEN Hamartoma Tumor Syndrome (PHTS) are offered breast cancer (BC) surveillance because of an increased BC lifetime risk. Surveillance guidelines are, howeve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed470957ae9152ac67b11cd303af7328
https://doi.org/10.1002/cncr.34326

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Probability of detecting germline BRCA1/2 pathogenic variants in histological subtypes of ovarian carcinoma. A meta-analysis

Autor: Janet R. Vos, Tjalling Bosse, Margreet G. E. M. Ausems, Majke H.D. van Bommel, Marjolijn J. L. Ligtenberg, Marian J.E. Mourits, Nicoline Hoogerbrugge, Vera M. Witjes, Joanne A. de Hullu

Publikováno v: Gynecologic Oncology, 164, 1, pp. 221-230
Gynecologic Oncology, 164, 221-230

Contains fulltext : 244552.pdf (Publisher’s version ) (Open Access) BACKGROUND: Histology restricted genetic predisposition testing of ovarian carcinoma patients is a topic of debate as the prevalence of BRCA1/2 pathogenic variants (PVs) in various

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e81d6e5290b677ad5f63593621af8644
https://doi.org/10.1016/j.ygyno.2021.10.072

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Supplementary Tables 1 through 5 from Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands

Autor: Geertruida H. de Bock, Jan C. Oosterwijk, Liesbeth Jansen, Annemarie H. van der Hout, Richard M. Brohet, Hans F. Vasen, Encarna B. Gómez-Garcia, Hanne E.J. Meijers-Heijboer, Theo A.M. van Os, Margreet G.E.M. Ausems, Arjen R. Mensenkamp, Christi J. van Asperen, Margriet Collée, Flora E. van Leeuwen, Matti A. Rookus, Marian J.E. Mourits, Dorina M. van der Kolk, Natalia Teixeira, Janet R. Vos

Supplementary Table 1. Clinical characteristics of BRCA1/2 carriers including index cases in the Northern Netherlands (study population) and in the rest of the Netherlands (reference population). Supplementary Table 2. Overview of number of carriers

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5038904ce7d8f9b24a5ec82049ab87b
https://doi.org/10.1158/1055-9965.22435510.v1

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Data from Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands

Background: We aimed to quantify previously observed relatively high cancer risks in BRCA2 mutation carriers (BRCA2 carriers) older than 60 in the Northern Netherlands, and to analyze whether these could be explained by mutation spectrum or populatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ee2fb7a1642cf211acd7fd8abc807b8
https://doi.org/10.1158/1055-9965.c.6514963

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Supplementary Table S1 from Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers

Autor: Geertruida H. de Bock, Marian J. Mourits, Margreet G.E.M. Ausems, Agnes Jager, Arjen R. Mensenkamp, Encarna B. Gómez Garcia, Christi J. van Asperen, Annemarie H. van der Hout, Muriel A. Adank, Matti A. Rookus, Cora M. Aalfs, Jan C. Oosterwijk, Janet R. Vos

Personal and family history at initial referral of the family and personal DNA test.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0b57ced148c5f39552315aee2f4cde7
https://doi.org/10.1158/1055-9965.22437883.v1

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Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome

Autor: Lisa Elze, Rachel S van der Post, Janet R Vos, Arjen R Mensenkamp, Mirjam S C de Hullu, Iris D Nagtegaal, Nicoline Hoogerbrugge, Richarda M de Voer, Marjolijn J L Ligtenberg

Publikováno v: Journal of the National Cancer Institute, 115, 7, pp. 853-860

Background Individuals with Lynch syndrome are at increased hereditary risk of colorectal and endometrial carcinomas with microsatellite instability (MSI-H) and mismatch repair-deficiency (dMMR), which make these tumors vulnerable to therapy with imm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::228cc918621fad1c21ea38f698649e8e
https://doi.org/10.1093/jnci/djad063

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The most efficient and effective BRCA1/2 testing strategy in epithelial ovarian cancer: Tumor-First or Germline-First?

Autor: Vera M. Witjes, Marjolijn J.L. Ligtenberg, Janet R. Vos, Jozé C.C. Braspenning, Margreet G.E.M. Ausems, Marian J.E. Mourits, Joanne A. de Hullu, Eddy M.M. Adang, Nicoline Hoogerbrugge

Publikováno v: Gynecologic Oncology, 174, pp. 121-128
Gynecologic Oncology, 174, 121-128

Objective: Genetic testing in epithelial ovarian cancer (OC) is essential to identify a hereditary cause like a germline BRCA1/2 pathogenic variant (PV). An efficient strategy for genetic testing in OC is highly desired. We evaluated costs and effect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e688aecb3f810e9269ae2ae895e4067c

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