Role of POLE and POLD1 in familial cancer

Genetics in Medicine - Tập 22 - Trang 2089-2100 - 2020
Pilar Mur1,2,3, Sandra García-Mulero2,4, Jesús del Valle1,2,3, Lorena Magraner-Pardo5, August Vidal6, Marta Pineda1,2,3, Giacomo Cinnirella1,2, Edgar Martín-Ramos7, Tirso Pons8, Adriana López-Doriga2,4,9, Sami Belhadj1,2, Lidia Feliubadaló1,2,3, Pau M. Munoz-Torres1,2, Matilde Navarro1,2,3, Elia Grau1,2, Esther Darder10, Gemma Llort11,12, Judit Sanz13, Teresa Ramón y Cajal14, Judith Balmana15
1Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain
2Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain
3Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain
4Oncology Data Analytics Program (ODAP), Catalan Institute of Oncology, IDIBELL Hospitalet de Llobregat Barcelona Spain
5Prostate Cancer Clinical Research Unit, Spanish National Cancer Research Center (CNIO), Madrid, Spain
6Department of Pathology, Bellvitge University Hospital, IDIBELL Hospitalet de Llobregat Barcelona Spain
7Department of Biomedical Sciences, School of Medicine University of Barcelona, IDIBAPS Barcelona Spain
8Department of Immunology and Oncology National Center for Biotechnology (CNB-CSIC), Spanish National Research Council Madrid Spain
9Centro de Investigación Biomédica en Red de Epidemiologia y Salud Pública CIBERESP, Madrid, Spain
10Hereditary Cancer Program, Catalan Institute of Oncology, IDIBGi, Girona, Spain
11Department of Medical Oncology Parc Taulí, Hospital Universitari Parc Taulí Sabadell, Barcelona Spain
12Consorci Sanitari de Terrassa Terrasa, Barcelona Spain
13Genetic Counseling Unit, Medical Oncology Department Althaia Xarxa Assistencial Universitària de Manresa Manresa Spain
14Department of Medical Oncology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
15Department of Medical Oncology Vall d’Hebron University Hospital, Vall d’Hebron Institute of Oncology (VHIO) Barcelona Spain

Tài liệu tham khảo

Palles Valle Rohlin Elsayed Spier Chubb Bellido Hansen Rohlin Aoude Brannon Network, 2012, Comprehensive molecular characterization of human colon and rectal cancer, Nature, 487, 330, 10.1038/nature11252 Seshagiri Giannakis Barbari Kandoth Church Church Shinbrot Zou Erson-Omay Campbell Briggs Alexandrov Haradhvala Bourdais Feliubadaló Castellanos Ioannidis Ghosh Alexandrov Richards Heitzer Jansen Hamzaoui N, Alarcon F, Leulliot N, et al. Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction. Genet Med. 2020 May 19; https://doi.org/10.1038/s41436-020-0828-z [Epub ahead of print]. Shirts Couch Easton West Barbari Mur Li Bellido Shevelev