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Akademický článek

Ameliorated cellular hallmarks of myotonic dystrophy in hybrid myotubes from patient and unaffected donor cells

Autor: Renée H.L. Raaijmakers, C. Rosanne M. Ausems, Marieke Willemse, Sarah A. Cumming, Baziel G.M. van Engelen, Darren G. Monckton, Hans van Bokhoven, Derick G. Wansink

Publikováno v: Stem Cell Research & Therapy, Vol 15, Iss 1, Pp 1-15 (2024)

Abstract Background Cell-based strategies are being explored as a therapeutic option for muscular dystrophies, using a variety of cell types from different origin and with different characteristics. Primary pericytes are multifunctional cells found i

Externí odkaz: https://doaj.org/article/d2979695721748088df787f7fc2a6289

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Akademický článek

Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

Autor: Karin Kast, Esther M. John, John L. Hopper, Nadine Andrieu, Catherine Noguès, Emmanuelle Mouret-Fourme, Christine Lasset, Jean-Pierre Fricker, Pascaline Berthet, Véronique Mari, Lucie Salle, Marjanka K. Schmidt, Margreet G. E. M. Ausems, Encarnacion B. Gomez Garcia, Irma van de Beek, Marijke R. Wevers, D. Gareth Evans, Marc Tischkowitz, Fiona Lalloo, Jackie Cook, Louise Izatt, Vishakha Tripathi, Katie Snape, Hannah Musgrave, Saba Sharif, Jennie Murray, EMBRACE Collaborators, Sarah V. Colonna, Irene L. Andrulis, Mary B. Daly, Melissa C. Southey, Miguel de la Hoya, Ana Osorio, Lenka Foretova, Dita Berkova, Anne-Marie Gerdes, Edith Olah, Anna Jakubowska, Christian F. Singer, Yen Tan, Annelie Augustinsson, Johanna Rantala, Jacques Simard, Rita K. Schmutzler, Roger L. Milne, Kelly-Anne Phillips, Mary Beth Terry, David Goldgar, Flora E. van Leeuwen, Thea M. Mooij, Antonis C. Antoniou, Douglas F. Easton, Matti A. Rookus, Christoph Engel

Publikováno v: Breast Cancer Research, Vol 25, Iss 1, Pp 1-13 (2023)

Abstract Introduction Height, body mass index (BMI), and weight gain are associated with breast cancer risk in the general population. It is unclear whether these associations also exist for carriers of pathogenic variants in the BRCA1 or BRCA2 genes

Externí odkaz: https://doaj.org/article/defb634c771140469f2099e850871259

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Akademický článek

Mainstream germline genetic testing in men with metastatic prostate cancer: design and protocol for a multicenter observational study

Autor: Michiel Vlaming, Eveline M. A. Bleiker, Inge M. van Oort, Lambertus A. L. M. Kiemeney, Margreet G. E. M. Ausems

Publikováno v: BMC Cancer, Vol 22, Iss 1, Pp 1-9 (2022)

Abstract Background In international guidelines, germline genetic testing is recommended for patients with metastatic prostate cancer. Before undergoing germline genetic testing, these patients should receive pre-test counseling. In the standard gene

Externí odkaz: https://doaj.org/article/ad53d0d396224d62afea041bd2fa2e40

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Akademický článek

Mainstream genetic testing for women with ovarian cancer provides a solid basis for patients to make a well-informed decision about genetic testing

Autor: Kyra Bokkers, Eveline M. A. Bleiker, Jacob P. Hoogendam, Mary E. Velthuizen, Henk W. R. Schreuder, Cornelis G. Gerestein, Joost G. Lange, Jacqueline A. Louwers, Marco J. Koudijs, Margreet G. E. M. Ausems, Ronald P. Zweemer

Publikováno v: Hereditary Cancer in Clinical Practice, Vol 20, Iss 1, Pp 1-14 (2022)

Abstract Background There is a growing need for genetic testing of women with epithelial ovarian cancer. Mainstream genetic testing provides an alternative care pathway in which non-genetic healthcare professionals offer pre-test counseling themselve

Externí odkaz: https://doaj.org/article/68594eeaf87d4a2a8975bde447505850

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Akademický článek

Patient-centered research: how do women tolerate nipple fluid aspiration as a potential screening tool for breast cancer?

Autor: Susana I. S. Patuleia, Cathy B. Moelans, Jasmijn Koopman, Julia E. C. van Steenhoven, Thijs van Dalen, Carmen C. van der Pol, Agnes Jager, Margreet G. E. M. Ausems, Paul J. van Diest, Elsken van der Wall, Karijn P. M. Suijkerbuijk

Publikováno v: BMC Cancer, Vol 22, Iss 1, Pp 1-8 (2022)

Abstract Background Nipple fluid aspiration (NFA) is a technique to acquire nipple aspirate fluid (NAF), which is considered a rich source of breast-specific biomarkers. Originating directly from the mammary ducts, this liquid biopsy can offer insigh

Externí odkaz: https://doaj.org/article/2326798361a045ca99048efef40df6ad

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Akademický článek

Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences

Autor: Mary E. Velthuizen, Rob B. van der Luijt, Beja J. de Vries, Marco J. Koudijs, Eveline M. A. Bleiker, Margreet G. E. M. Ausems

Publikováno v: Hereditary Cancer in Clinical Practice, Vol 19, Iss 1, Pp 1-9 (2021)

Abstract Background CHEK2 has been recognized as a breast cancer risk gene with moderate effect. Women who have previously tested negative for a BRCA1/2 gene germline pathogenic variant may benefit from additional genetic testing for the CHEK2 c.1100

Externí odkaz: https://doaj.org/article/1076d937f8164d9782ca974c4e18df4f

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Akademický článek

Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

Autor: Nasim Mavaddat, Antonis C. Antoniou, Thea M. Mooij, Maartje J. Hooning, Bernadette A. Heemskerk-Gerritsen, GENEPSO, Catherine Noguès, Marion Gauthier-Villars, Olivier Caron, Paul Gesta, Pascal Pujol, Alain Lortholary, EMBRACE, Daniel Barrowdale, Debra Frost, D. Gareth Evans, Louise Izatt, Julian Adlard, Ros Eeles, Carole Brewer, Marc Tischkowitz, Alex Henderson, Jackie Cook, Diana Eccles, HEBON, Klaartje van Engelen, Marian J. E. Mourits, Margreet G. E. M. Ausems, Linetta B. Koppert, John L. Hopper, Esther M. John, Wendy K. Chung, Irene L. Andrulis, Mary B. Daly, Saundra S. Buys, kConFab Investigators, Javier Benitez, Trinidad Caldes, Anna Jakubowska, Jacques Simard, Christian F. Singer, Yen Tan, Edith Olah, Marie Navratilova, Lenka Foretova, Anne-Marie Gerdes, Marie-José Roos-Blom, Flora E. Van Leeuwen, Brita Arver, Håkan Olsson, Rita K. Schmutzler, Christoph Engel, Karin Kast, Kelly-Anne Phillips, Mary Beth Terry, Roger L. Milne, David E. Goldgar, Matti A. Rookus, Nadine Andrieu, Douglas F. Easton, on behalf of IBCCS, kConFab, BCFR

Publikováno v: Breast Cancer Research, Vol 22, Iss 1, Pp 1-11 (2020)

Abstract Background The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers is uncertain. Retrospective analyses have suggested a protective effect but may be substantially biased. Prospect

Externí odkaz: https://doaj.org/article/d2bd4331f6ac44868c0ed8e56dec068e

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Akademický článek

Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

Publikováno v: Breast Cancer Research, Vol 22, Iss 1, Pp 1-3 (2020)

After publication of the original article [1], we were notified that columns in Table 2 were erroneously displayed.

Externí odkaz: https://doaj.org/article/209bfc06acbe40aca02aa85e0b80b7ca

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Mainstream germline genetic testing for patients with epithelial ovarian cancer leads to higher testing rates and a reduction in genetics-related healthcare costs from a healthcare payer perspective

Autor: K, Bokkers, G W J, Frederix, M E, Velthuizen, M, van der Aa, C G, Gerestein, E B L, van Dorst, J G, Lange, J A, Louwers, W, Koole, R P, Zweemer, M G E M, Ausems

Publikováno v: Gynecologic Oncology. 167:115-122

Germline genetic testing is increasingly offered to patients with epithelial ovarian cancer by non-genetic healthcare professionals, so called mainstream genetic testing. The aim of this study was to evaluate the effect of implementing a mainstream g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9639d08cab135f1b4ee2c4e6c2319ad1
https://doi.org/10.1016/j.ygyno.2022.08.011

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Long-term effects of premenopausal risk-reducing salpingo-oophorectomy on cognition in women with high familial risk of ovarian cancer: A cross-sectional study

Publikováno v: BJOG: An International Journal of Obstetrics and Gynaecology, 130(8), 968-977. Wiley-Blackwell Publishing Ltd
BJOG: An International Journal of Obstetrics & Gynaecology, 130(8), 968-977. Wiley Online Library
BJOG : an International Journal of Obstetrics and Gynaecology, 130, 968-977
Bjog-an International Journal of Obstetrics and Gynaecology, 130(8), 968-977. Wiley
BJOG : an International Journal of Obstetrics and Gynaecology, 130, 8, pp. 968-977
Terra, L, Lee Meeuw Kjoe, P R, Agelink van Rentergem, J A, Beekman, M J, Heemskerk-Gerritsen, B A M, van Beurden, M, Roeters van Lennep, J E, van Doorn, H C, de Hullu, J A, Mourits, M J E, van Dorst, E B L, Mom, C H, Slangen, B F M, Gaarenstroom, K N, van der Kolk, L E, Collée, J M, Wevers, M R, Ausems, M G E M, van Engelen, K, van de Beek, I, Berger, L P V, van Asperen, C J, Gomez Garcia, E B, Maas, A H E M, Hooning, M J, van der Wall, E, van Leeuwen, F E & Schagen, S B 2023, ' Long-term effects of premenopausal risk-reducing salpingo-oophorectomy on cognition in women with high familial risk of ovarian cancer : A cross-sectional study ', BJOG: An International Journal of Obstetrics & Gynaecology, vol. 130, no. 8, pp. 968-977 . https://doi.org/10.1111/1471-0528.17415
BJOG: An International Journal of Obstetrics and Gynaecology. Wiley Online Library
BJOG: An International Journal of Obstetrics and Gynaecology. Wiley-Blackwell

Objective: To examine the effect of a premenopausal risk-reducing salpingo-oophorectomy (RRSO) in women at increased risk of ovarian cancer on objective and subjective cognition at least 10 years after RRSO.Design: A cross-sectional study with prospe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74f6dd6a8e92792537369585589c875a
https://pure.eur.nl/en/publications/2c44b46f-f6af-4ca6-a55b-975340f19a6a

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