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Conference Paper: The genetic susceptibility and prognostic role of TERT-CLPTM1L and genes in DNA damage pathways in NPC
Title | The genetic susceptibility and prognostic role of TERT-CLPTM1L and genes in DNA damage pathways in NPC |
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Authors | |
Issue Date | 2015 |
Citation | The 7th International Biannual Symposium on Nasopharyngeal Carcinoma (NPC 2015), Yogyakarta, Indonesia, 3-6 June 2015. In BMC Proceedings, 2016, v. 10 suppl. 1, article no. 1, abstract no. O3 How to Cite? |
Abstract | Introduction The genetic etiology of nasopharyngeal carcinoma
(NPC) remains unclear. We hypothesized that heritable NPC risk was
attributable to the cumulative effects of multiple common low-risk
variants. A multigenic pathway-based approach was used to systematically score the cumulative effects with SNPs in genes in DNA repair
pathways for NPC risk. Although the radiotherapy is very effective in
curing NPC patients with early- stage tumors, local failure and distant
metastasis remain major challenges for treatment and it is necessary
to identify prognostic biomarkers that predict poor clinical outcomes
of advanced-stage NPC patients.
Aims We aimed to identify genetic susceptibility genes involved in
NPC development and prognostic biomarkers for NPC patients.
Methods A case-control association study was performed with Mass
ARRAY genotyping of about 300 SNPs covering 161 genes/loci in
2,349 Hong Kong individuals including 1,177 NPC patients and 1,172
Red Cross individuals. Both single SNP and pathway based analysis
were performed for NPC risk. Patients were also stratified according
to their familial status for meaningful association analysis. For identification of the prognostic biomarkers of NPC, the clinical pathological
information of 1,177 NPC was collected for univariate and multivariate statistical analysis for survival.
Results and discussions Single SNP association identified three
SNPs (rs401681, rs6774494, and rs3757318) corresponding to TERT/
CLPTM1L, MDS1-EVI1, and CCDC170 conferring modest protective
effects individually for NPC risk by the logistic regression analysis.
Stratification of NPC cases according to familial status identified
rs2380165 in BLM with an association with family history-positive
(FH+) NPC patients. Multiple SNP pathway-based analysis observed
cumulative effects for increasing numbers of unfavorable genotypes
in TERT- CLPTM1L and double-strand break repair (DSBR) conferred
elevated risk in FH+ and sporadic NPC patients. Our preliminary data
suggested a SNP in p53 with prognostic value for survival of NPC
patients. The prognostic role of p53 in NPC should be further validated in a larger cohort. |
Persistent Identifier | http://hdl.handle.net/10722/211484 |
DC Field | Value | Language |
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dc.contributor.author | Ko, JMY | - |
dc.contributor.author | Dai, W | - |
dc.contributor.author | Kwong, DLW | - |
dc.contributor.author | Ng, WT | - |
dc.contributor.author | Lee, AWM | - |
dc.contributor.author | Ngan, RKC | - |
dc.contributor.author | Yau, CC | - |
dc.contributor.author | Tung, S | - |
dc.contributor.author | Lung, ML | - |
dc.date.accessioned | 2015-07-15T07:23:54Z | - |
dc.date.available | 2015-07-15T07:23:54Z | - |
dc.date.issued | 2015 | - |
dc.identifier.citation | The 7th International Biannual Symposium on Nasopharyngeal Carcinoma (NPC 2015), Yogyakarta, Indonesia, 3-6 June 2015. In BMC Proceedings, 2016, v. 10 suppl. 1, article no. 1, abstract no. O3 | - |
dc.identifier.uri | http://hdl.handle.net/10722/211484 | - |
dc.description.abstract | Introduction The genetic etiology of nasopharyngeal carcinoma (NPC) remains unclear. We hypothesized that heritable NPC risk was attributable to the cumulative effects of multiple common low-risk variants. A multigenic pathway-based approach was used to systematically score the cumulative effects with SNPs in genes in DNA repair pathways for NPC risk. Although the radiotherapy is very effective in curing NPC patients with early- stage tumors, local failure and distant metastasis remain major challenges for treatment and it is necessary to identify prognostic biomarkers that predict poor clinical outcomes of advanced-stage NPC patients. Aims We aimed to identify genetic susceptibility genes involved in NPC development and prognostic biomarkers for NPC patients. Methods A case-control association study was performed with Mass ARRAY genotyping of about 300 SNPs covering 161 genes/loci in 2,349 Hong Kong individuals including 1,177 NPC patients and 1,172 Red Cross individuals. Both single SNP and pathway based analysis were performed for NPC risk. Patients were also stratified according to their familial status for meaningful association analysis. For identification of the prognostic biomarkers of NPC, the clinical pathological information of 1,177 NPC was collected for univariate and multivariate statistical analysis for survival. Results and discussions Single SNP association identified three SNPs (rs401681, rs6774494, and rs3757318) corresponding to TERT/ CLPTM1L, MDS1-EVI1, and CCDC170 conferring modest protective effects individually for NPC risk by the logistic regression analysis. Stratification of NPC cases according to familial status identified rs2380165 in BLM with an association with family history-positive (FH+) NPC patients. Multiple SNP pathway-based analysis observed cumulative effects for increasing numbers of unfavorable genotypes in TERT- CLPTM1L and double-strand break repair (DSBR) conferred elevated risk in FH+ and sporadic NPC patients. Our preliminary data suggested a SNP in p53 with prognostic value for survival of NPC patients. The prognostic role of p53 in NPC should be further validated in a larger cohort. | - |
dc.language | eng | - |
dc.relation.ispartof | BMC Proceedings | - |
dc.title | The genetic susceptibility and prognostic role of TERT-CLPTM1L and genes in DNA damage pathways in NPC | - |
dc.type | Conference_Paper | - |
dc.identifier.email | Ko, JMY: joko@hku.hk | - |
dc.identifier.email | Dai, W: weidai2@hku.hk | - |
dc.identifier.email | Kwong, DLW: dlwkwong@hku.hk | - |
dc.identifier.email | Ng, WT: ngwt1@hkucc.hku.hk | - |
dc.identifier.email | Lee, AWM: awmlee@hkucc.hku.hk | - |
dc.identifier.email | Yau, CC: yaucc@hkucc.hku.hk | - |
dc.identifier.email | Lung, ML: mlilung@hku.hk | - |
dc.identifier.authority | Ko, JMY=rp02011 | - |
dc.identifier.authority | Kwong, DLW=rp00414 | - |
dc.identifier.authority | Lung, ML=rp00300 | - |
dc.description.nature | link_to_OA_fulltext | - |
dc.identifier.doi | 10.1186/s12919-016-0001-5 | - |
dc.identifier.hkuros | 244858 | - |
dc.identifier.volume | 10 | - |
dc.identifier.issue | suppl. 1 | - |
dc.identifier.spage | article no. 1, abstract no. O3 | - |
dc.identifier.epage | article no. 1, abstract no. O3 | - |
dc.identifier.eissn | 1753-6561 | - |
dc.identifier.issnl | 1753-6561 | - |