dc.contributor |
Universitat de Vic. Escola Politècnica Superior |
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dc.contributor |
Universitat de Vic. Grup de Recerca en Bioinformàtica i Estadística Mèdica |
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dc.contributor.author |
Guey, Lin T.
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dc.contributor.author |
García-Closas, Montserrat
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dc.contributor.author |
Murta-Nascimento, Cristiane
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dc.contributor.author |
Lloreta, Josep
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dc.contributor.author |
Palencia, Laia
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dc.contributor.author |
Kogevinas, Manolis
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dc.contributor.author |
Rothman, Nathaniel
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dc.contributor.author |
Vellalta, Gemma
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dc.contributor.author |
Calle, M. Luz
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dc.contributor.author |
Marenne, Gaëlle
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dc.contributor.author |
Tardón, Adonina
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dc.contributor.author |
Carrato, Alfredo
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dc.contributor.author |
García Closas, Reina
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dc.contributor.author |
Serra, Consol
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dc.contributor.author |
Silverman, Debra T.
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dc.contributor.author |
Chanock, Stephen
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dc.contributor.author |
Real, Francisco X.
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dc.contributor.author |
Malats i Riera, Núria
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dc.date.accessioned |
2014-05-26T07:54:26Z |
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dc.date.available |
2014-05-26T07:54:26Z |
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dc.date.created |
2010 |
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dc.date.issued |
2010 |
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dc.identifier.citation |
Guey, L. T., Garcia-Closas, M., Murta-Nascimento, C., Lloreta, J., Palencia, L., Kogevinas, M., . . . EPICURO Spanish Bladder Canc Study. (2010). Genetic Susceptibility to Distinct Bladder Cancer Subphenotypes. European urology, 57(2), 283-292. doi:10.1016/j.eururo.2009.08.001 |
ca_ES |
dc.identifier.issn |
0302-2838 |
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dc.identifier.uri |
http://hdl.handle.net/10854/3077 |
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dc.description.abstract |
Background: Clinical, pathologic, and molecular evidence indicate that bladder
cancer is heterogeneous with pathologic/molecular features that define distinct
subphenotypes with different prognoses. It is conceivable that specific patterns of
genetic susceptibility are associated with particular subphenotypes.
Objective: To examine evidence for the contribution of germline genetic variation
to bladder cancer heterogeneity.
Design, setting, and participants: The Spanish Bladder Cancer/EPICURO Study is a
case-control study based in 18 hospitals located in five areas in Spain. Cases were
patients with a newly diagnosed, histologically confirmed, urothelial cell carcinoma
of the bladder from 1998 to 2001. Case diagnoses were reviewed and
uniformly classified by pathologists following the World Health Organisation/
International Society of Urological Pathology 1999 criteria. Controls were hospital-
matched patients (n = 1149).
Measurements: A total of 1526 candidate variants in 423 candidate genes were
analysed. Three distinct subphenotypes were defined according to stage and
grade: low-grade nonmuscle invasive (n = 586), high-grade nonmuscle invasive
(n = 219), and muscle invasive (n = 246). The association between each variant and subphenotype was assessed by polytomous risk models adjusting for potential
confounders. Heterogeneity in genetic susceptibility among subphenotypes was also
tested.
Results and limitations: Two established bladder cancer susceptibility genotypes, NAT2
slow-acetylation and GSTM1-null, exhibited similar associations among the subphenotypes,
as did VEGF-rs25648, which was previously identified in our study. Other
variants conferred risks for specific tumour subphenotypes such as PMS2-rs6463524
and CD4-rs3213427 (respective heterogeneity p values of 0.006 and 0.004), which were
associated with muscle-invasive tumours (per-allele odds ratios [95% confidence
interval] of 0.56 [0.41–0.77] and 0.71 [0.57–0.88], respectively) but not with non–
muscle-invasive tumours. Heterogeneity p values were not robust in multiple testing
according to their false-discovery rate.
Conclusions: These exploratory analyses suggest that genetic susceptibility loci might
be related to the molecular/pathologic diversity of bladder cancer. Validation through
large-scale replication studies and the study of additional genes and single nucleotide
polymorphisms are required. |
ca_ES |
dc.format |
application/pdf |
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dc.format.extent |
10 p. |
ca_ES |
dc.language.iso |
eng |
ca_ES |
dc.publisher |
Elsevier |
ca_ES |
dc.rights |
(c) 2010 Elsevier. Published article is available at: http://dx.doi.org/10.1016/j.eururo.2009.08.001 |
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dc.subject.other |
Bufeta -- Càncer -- Aspectes genètics |
ca_ES |
dc.subject.other |
Polimorfisme genètic |
ca_ES |
dc.title |
Genetic Susceptibility to Distinct Bladder Cancer Subphenotypes |
ca_ES |
dc.type |
info:eu-repo/semantics/article |
ca_ES |
dc.identifier.doi |
https://doi.org/10.1016/j.eururo.2009.08.001 |
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dc.relation.publisherversion |
http://www.sciencedirect.com/science/article/pii/S0302283809008033 |
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dc.rights.accessRights |
info:eu-repo/semantics/closedAccess |
ca_ES |
dc.type.version |
info:eu-repo/publishedVersion |
ca_ES |
dc.indexacio |
Indexat a SCOPUS |
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dc.indexacio |
Indexat a WOS/JCR |
ca_ES |