Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement

Authors: Pal Møller, Toni T. Seppälä, Aysel Ahadova, Emma J. Crosbie, Elke Holinski-Feder, Rodney Scott, Saskia Haupt, Gabriela Möslein, Ingrid Winship, Sanne W. Bajwa-ten Broeke, Kelly E. Kohut, Neil Ryan, Peter Bauerfeind, Laura E. Thomas, D. Gareth Evans, Stefan Aretz, Rolf H. Sijmons, Elizabeth Half, Karl Heinimann, Karoline Horisberger, Kevin Monahan, Christoph Engel, Giulia Martina Cavestro, Robert Fruscio, Naim Abu-Freha, Levi Zohar, Luigi Laghi, Lucio Bertario, Bernardo Bonanni, Maria Grazia Tibiletti, Leonardo S. Lino-Silva, Carlos Vaccaro, Adriana Della Valle, Benedito Mauro Rossi, Leandro Apolinário da Silva, Ivana Lucia de Oliveira Nascimento, Norma Teresa Rossi, Tadeusz Dębniak, Jukka-Pekka Mecklin, Inge Bernstein, Annika Lindblom, Lone Sunde, Sigve Nakken, Vincent Heuveline, John Burn, Eivind Hovig, Matthias Kloor, Julian R. Sampson, Mev Dominguez-Valentin, On behalf of the Prospective Lynch Syndrome Database (www.plsd.eu) and The European Hereditary Tumour Group (www.ehtg.org)

Source: Hereditary Cancer in Clinical Practice, Vol 21, Iss 1, Pp 1-12 (2023)

Subject Terms: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1897-4287

Access URL: https://doaj.org/article/952d37829e8040c192582717c1ee47f5

Evaluation of a seven gene mutational profile as a prognostic factor in a population-based study of clear cell renal cell carcinoma

Authors: Jeroen A. A. van de Pol, Paranita Ferronika, Helga Westers, Manon van Engeland, Martijn M. Terpstra, Kim M. Smits, Kim de Lange, Piet A. van den Brandt, Rolf H. Sijmons, Leo J. Schouten, Klaas Kok

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/c6048eb133a44760a00156881a3a8d91

AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature

Authors: Laura Roht, Hanne K. Hyldebrandt, Astrid T. Stormorken, Hilde Nordgarden, Rolf H. Sijmons, Dennis K. Bos, Douglas Riegert‐Johnson, Sarah Mantia‐Macklin, Pilvi Ilves, Kai Muru, Monica H. Wojcik, Tiina Kahre, Katrin Õunap

Source: Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)

Subject Terms: AXIN2, cancer predisposition syndrome, cleft palate, oligodontia, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/5aff02c19dec4b41b527299b5660ab84

PMS2-associated Lynch syndrome: Past, present and future

Authors: Katarina D. Andini, Maartje Nielsen, Manon Suerink, Noah C. Helderman, Jan Jacob Koornstra, Aysel Ahadova, Matthias Kloor, Marian J.E. Mourits, Klaas Kok, Rolf H. Sijmons, Sanne W. Bajwa–ten Broeke

Source: Frontiers in Oncology, Vol 13 (2023)

Subject Terms: Lynch syndrome (hereditary nonpolyposis colorectal cancer), mismatch repair (MMR), PMS2 gene, colorectal cancer, endometrial cancer, carcinonogenesis, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2023.1127329/full; https://doaj.org/toc/2234-943X

Access URL: https://doaj.org/article/15769ffda77f4c1a9b30087e71c7b542

Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics

Authors: Mohamed Z. Alimohamed, Helga Westers, Yvonne J. Vos, K. Joeri Van der Velde, Rolf H. Sijmons, Paul A. Van der Zwaag, Birgit Sikkema-Raddatz, Jan D. H. Jongbloed

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: cardiomyopathy, NGS gene panel, variant classification, constraint metrics, cardiogenetics, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.824510/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/ad56929e4cb34a12b260f4de521ce77c

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance

Authors: Fatemeh Ghorbani, Mohamed Z. Alimohamed, Juliana F. Vilacha, Krista K. Van Dijk, Jelkje De Boer-Bergsma, Michiel R. Fokkens, Henny Lemmink, Rolf H. Sijmons, Birgit Sikkema-Raddatz, Matthew R. Groves, Corien C. Verschuuren-Bemelmans, Dineke S. Verbeek, Cleo C. Van Diemen, Helga Westers

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: genetic diagnostics, variant of unknown significance, spinocerebellar ataxia, gene panel, functional studies, protein modeling, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.782685/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/e0ce2a4a56bf4a8db0790dfc9826b968

NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing

Authors: Lennart F. Johansson, Hendrik A. de Weerd, Eddy N. de Boer, Freerk van Dijk, Gerard J. te Meerman, Rolf H. Sijmons, Birgit Sikkema-Raddatz, Morris A. Swertz

Source: BMC Bioinformatics, Vol 19, Iss 1, Pp 1-5 (2018)

Subject Terms: NIPT, Trisomy prediction, Next-generation sequencing, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12859-018-2557-8; https://doaj.org/toc/1471-2105

Access URL: https://doaj.org/article/51f412d93bfe4979993519fc8a609c19

B Cells as Prognostic Biomarker After Surgery for Colorectal Liver Metastases

Authors: Joost Hof, Lydia Visser, Diederik J. Höppener, Pieter M. H. Nierop, Miente M. Terpstra, Annette S. H. Gouw, Dirk J. Grünhagen, Cornelis Verhoef, Rolf H. Sijmons, Koert P. de Jong, Klaas Kok

Source: Frontiers in Oncology, Vol 10 (2020)

Subject Terms: colorectal liver metastases, cancer, genetics, RNA sequencing, B cells, immunohistochemistry, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fonc.2020.00249/full; https://doaj.org/toc/2234-943X

Access URL: https://doaj.org/article/f940bda3b01745c59d98154ff7af8a56

Functional Studies on Primary Tubular Epithelial Cells Indicate a Tumor Suppressor Role of SETD2 in Clear Cell Renal Cell Carcinoma

Authors: Jun Li, Joost Kluiver, Jan Osinga, Helga Westers, Maaike B van Werkhoven, Marc A. Seelen, Rolf H. Sijmons, Anke van den Berg, Klaas Kok

Source: Neoplasia: An International Journal for Oncology Research, Vol 18, Iss 6, Pp 339-346 (2016)

Subject Terms: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1476558616300185; https://doaj.org/toc/1476-5586; https://doaj.org/toc/1522-8002

Access URL: https://doaj.org/article/89a442748b1341539ed9d5f044cda552

Systematic Review of the Prognostic Role of the Immune System After Surgery of Colorectal Liver Metastases

Authors: Joost Hof, Klaas Kok, Rolf H. Sijmons, Koert P. de Jong

Source: Frontiers in Oncology, Vol 9 (2019)

Subject Terms: colorectal liver metastases, immune system, prognosis, survival, immunohistochemistry, high-throughput, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fonc.2019.00148/full; https://doaj.org/toc/2234-943X

Access URL: https://doaj.org/article/9f1ac969b6964e0e87f795328cf8321e

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Colorectal cancer and the CHEK2 1100delC mutation.

Authors: Mirjam M. de Jong, Ilja M. Nolte, Gerard J. te Meerman, Winette T. A. van der Graaf, Marcel J. Mulder, Gerrit van der Steege, Marcel Bruinenberg, Michael Schaapveld, Rene C. Niessen, Maran J. W. Berends, Rolf H. Sijmons, Robert M. W. Hofstra, Elisabeth G. E. de Vries, Jan H. Kleibeuker

Source: Genes, Chromosomes & Cancer; Aug2005, Vol. 43 Issue 4, p377-382, 6p

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