Improving calculation, interpretation and communication of familial colorectal cancer risk: Protocol for a randomized controlled trial

Autor: Adang Eddy, Salemink Simone, van Duijvendijk Peter, Nagengast Fokko M, van der Weijden Trudy, Elwyn Glyn, Hermens Rosella PMG, Dekker Nicky, van Krieken J Han JM, Ligtenberg Marjolijn JL, Hoogerbrugge Nicoline

Publikováno v: Implementation Science, Vol 5, Iss 1, p 6 (2010)

Abstract Background Individuals with multiple relatives with colorectal cancer (CRC) and/or a relative with early-onset CRC have an increased risk of developing CRC. They are eligible for preventive measures, such as surveillance by regular colonosco

Externí odkaz: https://doaj.org/article/953f27101e074d2a9bf547111f5dc025

Mismatch repair deficiency in early‐onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect.

Autor: Kryklyva, Valentyna, Brosens, Lodewijk AA, Marijnissen‐van Zanten, Monica AJ, Ligtenberg, Marjolijn JL, Nagtegaal, Iris D

Publikováno v: Journal of Pathology: Clinical Research; Mar2022, Vol. 8 Issue 2, p181-190, 10p

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

Autor: Couch, Fergus J, Wang, Xianshu, McGuffog, Lesley, Lee, Andrew, Olswold, Curtis, Kuchenbaecker, Karoline B, Soucy, Penny, Fredericksen, Zachary, Barrowdale, Daniel, Dennis, Joe, Gaudet, Mia M, Dicks, Ed, Kosel, Matthew, Healey, Sue, Sinilnikova, Olga M, Lee, Adam, Bacot, François, Vincent, Daniel, Hogervorst, Frans BL, Peock, Susan, Stoppa-Lyonnet, Dominique, Jakubowska, Anna, kConFab Investigators, Radice, Paolo, Schmutzler, Rita Katharina, SWE-BRCA, Domchek, Susan M, Piedmonte, Marion, Singer, Christian F, Friedman, Eitan, Thomassen, Mads, Ontario Cancer Genetics Network, Hansen, Thomas VO, Neuhausen, Susan L, Szabo, Csilla I, Blanco, Ignacio, Greene, Mark H, Karlan, Beth Y, Garber, Judy, Phelan, Catherine M, Weitzel, Jeffrey N, Montagna, Marco, Olah, Edith, Andrulis, Irene L, Godwin, Andrew K, Yannoukakos, Drakoulis, Goldgar, David E, Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, Terry, Mary Beth, Daly, Mary B, van Rensburg, Elizabeth J, Hamann, Ute, Ramus, Susan J, Toland, Amanda Ewart, Caligo, Maria A, Olopade, Olufunmilayo I, Tung, Nadine, Claes, Kathleen, Beattie, Mary S, Southey, Melissa C, Imyanitov, Evgeny N, Tischkowitz, Marc, Janavicius, Ramunas, John, Esther M, Kwong, Ava, Diez, Orland, Balmaña, Judith, Barkardottir, Rosa B, Arun, Banu K, Rennert, Gad, Teo, Soo-Hwang, Ganz, Patricia A, Campbell, Ian, van der Hout, Annemarie H, van Deurzen, Carolien HM, Seynaeve, Caroline, Gómez Garcia, Encarna B, van Leeuwen, Flora E, Meijers-Heijboer, Hanne EJ, Gille, Johannes JP, Ausems, Margreet GEM, Blok, Marinus J, Ligtenberg, Marjolijn JL, Rookus, Matti A, Devilee, Peter, Verhoef, Senno, van Os, Theo AM, Wijnen, Juul T, HEBON, EMBRACE, Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D Gareth, Izatt, Louise, Eeles, Rosalind A, Adlard, Julian

Publikováno v: PLoS genetics, vol 9, iss 3

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0525938cfad6f7465944dcf002111b4d
https://escholarship.org/uc/item/3n33s4t6

Micro-costing diagnostics in oncology: from single-gene testing to whole- genome sequencing.

Autor: Pasmans, Clémence T. B., Tops, Bastiaan B. J., Steeghs, Elisabeth M. P., Coupé, Veerle M. H., Grünberg, Katrien, de Jong, Eiko K, Schuuring, Ed M. D., Willems, Stefan M., Ligtenberg, Marjolijn J. l., Retèl, Valesca P., van Snellenberg, Hans, de Bruijn, Ewart, Cuppen, Edwin, Frederix, Geert W. J., Pasmans, Clémence Tb, Tops, Bastiaan Bj, Steeghs, Elisabeth Mp, Coupé, Veerle Mh, Schuuring, Ed Md, Ligtenberg, Marjolijn Jl

Publikováno v: Expert Review of Pharmacoeconomics & Outcomes Research; Jun2021, Vol. 21 Issue 3, p413-414, 2p

NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?

Autor: Weren RD; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands., Ligtenberg MJ; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.; Department of Pathology, Radboud Institute for Molecular Life Sciences, Radboud university medical centre, Nijmegen, The Netherlands., Geurts van Kessel A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands., De Voer RM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands., Hoogerbrugge N; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands., Kuiper RP; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.

Publikováno v: The Journal of pathology [J Pathol] 2018 Feb; Vol. 244 (2), pp. 135-142. Date of Electronic Publication: 2017 Dec 14.