Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Maaike Pg, Vreeswijk"'
Autor:
Claire JH Kramer, Alba Llop‐Guevara, Elisa Yaniz‐Galende, Benedetta Pellegrino, Natalja T terHaar, Andrea Herencia‐Ropero, Nicoletta Campanini, Antonino Musolino, Tjalling Bosse, Alexandra Leary, Violeta Serra, Maaike PG Vreeswijk
Publikováno v:
The Journal of Pathology: Clinical Research, Vol 9, Iss 6, Pp 442-448 (2023)
Abstract The RAD51 test is emerging as a promising biomarker for the assessment of functional homologous recombination deficiency (HRD). Yet, the robustness and reproducibility of the immunofluorescence‐based RAD51 test, in different academic labor
Externí odkaz:
https://doaj.org/article/fba349eabeb84ca8af5db56235c061a6
Autor:
Claire JH Kramer, Lieke Lanjouw, Arja ter Elst, Nienke Solleveld-Westerink, Hans M Hazelbag, Marjolein J Kagie, Els JM Ahsmann, Annemieke H van der Hout, Nienke van der Stoep, Cor D de Kroon, Katja N Gaarenstroom, Tom van Wezel, Lieke PV Berger, Vincent THBM Smit, Truuske H de Bock, Christi J van Asperen, Marian JE Mourits, Maaike PG Vreeswijk, Joost Bart, Tjalling Bosse
Publikováno v:
Ovarian cancer.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a4b7d1bc3f3939fd14990dd4e0c103c4
https://doi.org/10.1136/ijgc-2022-esgo.532
https://doi.org/10.1136/ijgc-2022-esgo.532
Autor:
Elena Bueno‐Martínez, Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Ada Esteban‐Sánchez, Víctor Lorca, Inés Llinares‐Burguet, Jamie Allen, Alicia García‐Álvarez, Pedro Pérez‐Segura, Mercedes Durán, Douglas F Easton, Peter Devilee, Maaike PG Vreeswijk, Miguel de la Hoya, Eladio A Velasco‐Sampedro
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
The Journal of Pathology, 258(1), 83-101. WILEY
instname
The Journal of Pathology, 258(1), 83-101. WILEY
The ataxia telangiectasia-mutated (ATM) protein is a major coordinator of the DNA damage response pathway. ATM loss-of-function variants are associated with 2-fold increased breast cancer risk. We aimed at identifying and classifying spliceogenic ATM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14fbed054193fc8de9b8884d6a963382
Autor:
Alberto, Valenzuela-Palomo, Elena, Bueno-Martínez, Lara, Sanoguera-Miralles, Víctor, Lorca, Eugenia, Fraile-Bethencourt, Ada, Esteban-Sánchez, Susana, Gómez-Barrero, Sara, Carvalho, Jamie, Allen, Alicia, García-Álvarez, Pedro, Pérez-Segura, Leila, Dorling, Douglas F, Easton, Peter, Devilee, Maaike Pg, Vreeswijk, Miguel, de la Hoya, Eladio A, Velasco
Publikováno v:
The Journal of pathology. 256(3)
PALB2 loss-of-function variants confer high risk of developing breast cancer. Here we present a systematic functional analysis of PALB2 splice-site variants detected in approximately 113,000 women in the large-scale sequencing project Breast Cancer A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::85c78dad97429e2e623c8c41513d4ed1
https://pubmed.ncbi.nlm.nih.gov/34846068
https://pubmed.ncbi.nlm.nih.gov/34846068
Autor:
Setareh, Moghadasi, Huong D, Meeks, Maaike Pg, Vreeswijk, Linda Am, Janssen, Åke, Borg, Hans, Ehrencrona, Ylva, Paulsson-Karlsson, Barbara, Wappenschmidt, Christoph, Engel, Andrea, Gehrig, Norbert, Arnold, Thomas Van Overeem, Hansen, Mads, Thomassen, Uffe Birk, Jensen, Torben A, Kruse, Bent, Ejlertsen, Anne-Marie, Gerdes, Inge Søkilde, Pedersen, Sandrine M, Caputo, Fergus, Couch, Emily J, Hallberg, Ans Mw, van den Ouweland, Margriet J, Collée, Erik, Teugels, Muriel A, Adank, Rob B, van der Luijt, Arjen R, Mensenkamp, Jan C, Oosterwijk, Marinus J, Blok, Nicolas, Janin, Kathleen Bm, Claes, Kathy, Tucker, Valeria, Viassolo, Amanda Ewart, Toland, Diana E, Eccles, Peter, Devilee, Christie J, Van Asperen, Amanda B, Spurdle, David E, Goldgar, Encarna Gómez, García
Publikováno v:
Journal of medical genetics. 55(1)
We previously showed that theData were collected from 129In this cohort the cumulative risk of BC and OC by age 70 years was 20% and 6%, respectively. The relative risk for developing cancer was higher when using a model that included the effects of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0b6eb635c4d4615d0efd7944894f70ae
https://pubmed.ncbi.nlm.nih.gov/28490613
https://pubmed.ncbi.nlm.nih.gov/28490613