Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.
The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2009
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| _version_ | 1826296047124611072 |
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| author | Rafnar, T Sulem, P Stacey, SN Geller, F Gudmundsson, J Sigurdsson, A Jakobsdottir, M Helgadottir, H Thorlacius, S Aben, K Blöndal, T Thorgeirsson, T Thorleifsson, G Kristjansson, K Thorisdottir, K Ragnarsson, R Sigurgeirsson, B Skuladottir, H Gudbjartsson, T Isaksson, H Einarsson, G Benediktsdottir, K Agnarsson, B Olafsson, K Salvarsdottir, A |
| author_facet | Rafnar, T Sulem, P Stacey, SN Geller, F Gudmundsson, J Sigurdsson, A Jakobsdottir, M Helgadottir, H Thorlacius, S Aben, K Blöndal, T Thorgeirsson, T Thorleifsson, G Kristjansson, K Thorisdottir, K Ragnarsson, R Sigurgeirsson, B Skuladottir, H Gudbjartsson, T Isaksson, H Einarsson, G Benediktsdottir, K Agnarsson, B Olafsson, K Salvarsdottir, A |
| author_sort | Rafnar, T |
| collection | OXFORD |
| description | The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR = 1.25, P = 3.7 x 10(-12)). We tested rs401681 for association with 16 additional cancer types in over 30,000 cancer cases and 45,000 controls and found association with lung cancer (OR = 1.15, P = 7.2 x 10(-8)) and urinary bladder, prostate and cervix cancer (ORs = 1.07-1.31, all P < 4 x 10(-4)). However, rs401681[C] seems to confer protection against cutaneous melanoma (OR = 0.88, P = 8.0 x 10(-4)). Notably, most of these cancer types have a strong environmental component to their risk. Investigation of the region led us to rs2736098[A], which showed stronger association with some cancer types. However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene. |
| first_indexed | 2024-03-07T04:10:20Z |
| format | Journal article |
| id | oxford-uuid:c79d0d5d-5807-47d3-86f9-5bd5622d65c9 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T04:10:20Z |
| publishDate | 2009 |
| record_format | dspace |
| spelling | oxford-uuid:c79d0d5d-5807-47d3-86f9-5bd5622d65c92022-03-27T06:46:22ZSequence variants at the TERT-CLPTM1L locus associate with many cancer types.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:c79d0d5d-5807-47d3-86f9-5bd5622d65c9EnglishSymplectic Elements at Oxford2009Rafnar, TSulem, PStacey, SNGeller, FGudmundsson, JSigurdsson, AJakobsdottir, MHelgadottir, HThorlacius, SAben, KBlöndal, TThorgeirsson, TThorleifsson, GKristjansson, KThorisdottir, KRagnarsson, RSigurgeirsson, BSkuladottir, HGudbjartsson, TIsaksson, HEinarsson, GBenediktsdottir, KAgnarsson, BOlafsson, KSalvarsdottir, AThe common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR = 1.25, P = 3.7 x 10(-12)). We tested rs401681 for association with 16 additional cancer types in over 30,000 cancer cases and 45,000 controls and found association with lung cancer (OR = 1.15, P = 7.2 x 10(-8)) and urinary bladder, prostate and cervix cancer (ORs = 1.07-1.31, all P < 4 x 10(-4)). However, rs401681[C] seems to confer protection against cutaneous melanoma (OR = 0.88, P = 8.0 x 10(-4)). Notably, most of these cancer types have a strong environmental component to their risk. Investigation of the region led us to rs2736098[A], which showed stronger association with some cancer types. However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene. |
| spellingShingle | Rafnar, T Sulem, P Stacey, SN Geller, F Gudmundsson, J Sigurdsson, A Jakobsdottir, M Helgadottir, H Thorlacius, S Aben, K Blöndal, T Thorgeirsson, T Thorleifsson, G Kristjansson, K Thorisdottir, K Ragnarsson, R Sigurgeirsson, B Skuladottir, H Gudbjartsson, T Isaksson, H Einarsson, G Benediktsdottir, K Agnarsson, B Olafsson, K Salvarsdottir, A Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. |
| title | Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. |
| title_full | Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. |
| title_fullStr | Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. |
| title_full_unstemmed | Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. |
| title_short | Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. |
| title_sort | sequence variants at the tert clptm1l locus associate with many cancer types |
| work_keys_str_mv | AT rafnart sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT sulemp sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT staceysn sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT gellerf sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT gudmundssonj sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT sigurdssona sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT jakobsdottirm sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT helgadottirh sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT thorlaciuss sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT abenk sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT blondalt sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT thorgeirssont sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT thorleifssong sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT kristjanssonk sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT thorisdottirk sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT ragnarssonr sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT sigurgeirssonb sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT skuladottirh sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT gudbjartssont sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT isakssonh sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT einarssong sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT benediktsdottirk sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT agnarssonb sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT olafssonk sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes AT salvarsdottira sequencevariantsatthetertclptm1llocusassociatewithmanycancertypes |