POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of...
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance
About this item
Full title
Author / Creator
Bellido, Fernando , Pineda, Marta , Aiza, Gemma , Valdés-Mas, Rafael , Navarro, Matilde , Puente, Diana A. , Pons, Tirso , González, Sara , Iglesias, Silvia , Darder, Esther , Piñol, Virginia , Soto, José Luís , Valencia, Alfonso , Blanco, Ignacio , Urioste, Miguel , Brunet, Joan , Lázaro, Conxi , Capellá, Gabriel , Puente, Xose S. and Valle, Laura
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
Germ-line mutations in the exonuclease domains of POLE and POLD1 have been recently associated with polyposis and colorectal cancer (CRC) predisposition. Here, we aimed to gain a better understanding of the phenotypic characteristics of this syndrome to establish specific criteria for POLE and POLD1 mutation screening and to help define the clinica...
Alternative Titles
Full title
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance
Authors, Artists and Contributors
Author / Creator
Pineda, Marta
Aiza, Gemma
Valdés-Mas, Rafael
Navarro, Matilde
Puente, Diana A.
Pons, Tirso
González, Sara
Iglesias, Silvia
Darder, Esther
Piñol, Virginia
Soto, José Luís
Valencia, Alfonso
Blanco, Ignacio
Urioste, Miguel
Brunet, Joan
Lázaro, Conxi
Capellá, Gabriel
Puente, Xose S.
Valle, Laura
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4823640
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4823640
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2015.75
