Browsing by Author Spier, Isabel
Showing results 1 to 8 of 8
| Issue Date | Title | Author(s) |
|---|---|---|
| 24-Oct-2023 | Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome | Dueñas, Nuria; Klinkhammer, Hannah; Bonifaci Cano, Núria; Spier, Isabel; Mayr, Andreas; Hassanin, Emadeldin; Díez Villanueva, Anna; Moreno Aguado, Víctor; Pineda, Marta; Maj, Carlo; Capellà, Gabriel; Aretz, Stefan; Brunet, Joan |
| 28-Sep-2022 | Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome | Hendricks, Linda A. J.; Hoogerbrugge, Nicoline; Mensenkamp, Arjen R.; Brunet, Joan; Lleuger Pujol, Roser; Høberg-Vetti, Hildegunn; Tveit Haavind, Marianne; Innella, Giovanni; Turchetti, Daniela; Aretz, Stefan; Spier, Isabel; Tischkowitz, Marc; Jahn, Arne; Links, Thera P.; Olderode-Berends, Maran J. W.; Blatnik, Ana; Leter, Edward M.; Evans, D. Gareth; Woodward, Emma R.; Steinke-Lange, Verena; Anastasiadou, Violetta C.; Colas, Chrystelle; Villy, Marie Charlotte; Benusiglio, Patrick R.; Gerasimenko, Anna; Barili, Valeria; Branchaud, Maud; Houdayer, Claude; Tesi, Bianca; Yazicioglu, M. Omer; Post, Rachel S. van der; Schuurs-Hoeijmakers, Janneke H. M.; Hest, Liselotte P. van; Adank, Muriel A.; Duijkers, Floor; Nielsen, Maartje; Verbeek, Katja C. J.; Ierland, Yvette van; Giltay, Jacques C.; Vos, Janet R.; PTEN Study Group |
| 5-Mar-2023 | Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence | Hassanin, Emadeldin; Spier, Isabel; Bobbili, Dheeraj R.; Aldisi, Rana; Klinkhammer, Hannah; David, Friederike; Dueñas, Nuria; Hüneburg, Robert; Perne, Claudia; Brunet, Joan; Capella, Gabriel; Nöthen, Markus M.; Forstner, Andreas J.; Mayr, Andreas; Krawitz, Peter; May, Patrick; Aretz, Stefan; Maj, Carlo |
| 1-Feb-2024 | Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel | Spier, Isabel; Yin, Xiaoyu; Richardson, Marcy; Pineda, Marta; Laner, Andreas; Ritter, Deborah; Boyle, Julie; Mur, Pilar; Hansen, Thomas V O.; Shi, Xuemei; Mahmood, Khalid; Plazzer, John-Paul; Ognedal, Elisabet; Nordling, Margareta; Farrington, Susan M.; Yamamoto, Gou; Baert-Desurmont, Stéphanie; Martins, Alexandra; Borras, Ester; Tops, Carli; Webb, Erica; Beshay, Victoria; Genuardi, Maurizio; Pesaran, Tina; Capellá, Gabriel; Tavtigian, Sean V.; Latchford, Andrew; Frayling, Ian M.; Plon, Sharon E.; Greenblatt, Marc; Macrae, Finlay A.; Aretz, Stefan |
| 1-Jan-2023 | Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes | Garcia Pelaez, José; Barbosa Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sérgio; Sousa, Sónia; Pinheiro, Hugo; Sousa, Liliana; Monteiro, Rita; Maqueda, Joaquin J.; Fernandes, Susana; Carneiro, Fátima; Pinto, Nádia; Lemos, Carolina; Pinto, Carla; Teixeira, Manuel R.; Aretz, Stefan; Bajalica Lagercrantz, Svetlana; Balmaña, Judith; Blatnik, Ana; Benusiglio, Patrick R.; Blanluet, Maud; Bours, Vincent; Brems, Hilde; Brunet, Joan; Calistri, Daniele; Capella, Gabriel; Carrera, Sergio; Colas, Chrystelle; Dahan, Karin; Putter, Robin de; Desseignés, Camille; Domínguez Garrido, Elena; Egas, Conceição; Evans, D. Gareth; Feret, Damien; Fewings, Eleanor; Fitzgerald, Rebecca C.; Coulet, Florence; Garcia Barcina, María; Genuardi, Maurizio; Golmard, Lisa; Hackmann, Karl; Hanson, Helen; Holinski Feder, Elke; Hüneburg, Robert; Krajc, Mateja; Lagerstedt Robinson, Kristina; Lázaro García, Conxi; Ligtenberg, Marjolijn J. L.; Martínez Bouzas, Cristina; Merino, Sonia; Michils, Geneviève; Novaković, Srdjan; Patiño García, Ana; Ranzani, Guglielmina Nadia; Schröck, Evelin; Silva, Inês; Silveira, Catarina; Soto, José L.; Spier, Isabel; Steinke Lange, Verena; Tedaldi, Gianluca; Tejada, María isabel; Woodward, Emma R; Tischkowitz, Marc; Hoogerbrugge, Nicoline; Oliveira, Carla |
| 1-Dec-2022 | Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort | Hendricks, Linda A.J.; Hoogerbrugge, Nicoline; Venselaar, Hanka; Aretz, Stefan; Spier, Isabel; Legius, Eric; Brems, Hilde; De Putter, Robin; Claes, Kathleen B.M.; Evans, D. Gareth; Woodward, Emma R.; Genuardi, Maurizio; Brugnoletti, Fulvia; Van Ierland, Yvette; Dijke, Kim; Tham, Emma; Tesi, Bianca; Schuurs Hoeijmakers, Janneke H.M.; Branchaud, Maud; Salvador, Hector; Jahn, Arne; Schnaiter, Simon; Anastasiadou, Violetta Christophidou; Brunet, Joan; Oliveira, Carla; Roht, Laura; Blatnik, Ana; Irmejs, Arvids; Mensenkamp, Arjen R.; Vos, Janet R.; Duijkers, Floor; Giltay, Jacques C.; Van Hest, Liselotte P.; Kleefstra, Tjitske; Leter, Edward M.; Nielsen, Maartje; Nijmeijer, Sebastiaan W.R.; Olderode-Berends, Maran J. W. |
| 1-Nov-2024 | Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS | Yin, Xiaoyu; Richardson, Marcy; Laner, Andreas; Shi, Xuemei; Ognedal, Elisabet; Vasta, Valeria; Hansen, Thomas V.o.; Pineda, Marta; Ritter, Deborah; De Dunnen, Johan; Hassanin, Emadeldin; Lin, Wencong Lyman; Borras, Ester; Krahn, Karl; Nordling, Margareta; Martins, Alexandra; Mahmood, Khalid; Nadeau, Emily; Beshay, Victoria; Tops, Carli; Genuardi, Maurizio; Pesaran, Tina; Frayling, Ian M.; Capellá, Gabriel; Latchford, Andrew; Tavtigian, Sean V.; Maj, Carlo; Plon, Sharon E.; Greenblatt, Marc S.; Macrae, Finlay A.; Spier, Isabel; Aretz, Stefan |
| 1-Nov-2023 | MTHFR C677T and A1298C polymorphism’s effect on risk of colorectal cancer in Lynch syndrome | Wiik, Mariann Unhjem; Negline, Mia; Beisvåg, Vidar; Clapham, Matthew; Holliday, Elizabeth; Dueñas, Nuria; Brunet, Joan; Pineda, Marta; Bonifaci, Nuria; Aretz, Stefan; Klinkhammer, Hannah; Spier, Isabel; Perne, Claudia; Mayr, Andreas; Valle, Laura; Lubinski, Jan; Sjursen, Wenche; Scott, Rodney J.; Talseth-Palmer, Bente A. |