Gene-gene interactions in breast cancer susceptibility
There have been few definitive examples of gene-gene interactions in humans. Through mutational analyses in 7325 individuals, we report four interactions (defined as departures from a multiplicative model) between mutations in the breast cancer susceptibility genes ATM and CHEK2 with BRCA1 and BRCA2...
| Автори: | , , , , , , , , , , , , , , , , , , , , , , , , |
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| Формат: | Journal article |
| Мова: | English |
| Опубліковано: |
2012
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| _version_ | 1826263142231965696 |
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| author | Turnbull, C Seal, S Renwick, A Warren-perry, M Hughes, D Elliott, A Pernet, D Peock, S Adlard, J Barwell, J Berg, J Brady, A Brewer, C Brice, G Chapman, C Cook, J Davidson, R Donaldson, A Douglas, F Greenhalgh, L Henderson, A Izatt, L Kumar, A Lalloo, F Miedzybrodzka, Z |
| author_facet | Turnbull, C Seal, S Renwick, A Warren-perry, M Hughes, D Elliott, A Pernet, D Peock, S Adlard, J Barwell, J Berg, J Brady, A Brewer, C Brice, G Chapman, C Cook, J Davidson, R Donaldson, A Douglas, F Greenhalgh, L Henderson, A Izatt, L Kumar, A Lalloo, F Miedzybrodzka, Z |
| author_sort | Turnbull, C |
| collection | OXFORD |
| description | There have been few definitive examples of gene-gene interactions in humans. Through mutational analyses in 7325 individuals, we report four interactions (defined as departures from a multiplicative model) between mutations in the breast cancer susceptibility genes ATM and CHEK2 with BRCA1 and BRCA2 (case-only interaction between ATM and BRCA1/BRCA2 combined, P = 5.9 × 10 -4; ATM and BRCA1, P= 0.01; ATM and BRCA2, P= 0.02; CHEK2 and BRCA1/BRCA2 combined, P = 2.1 × 10 =4; CHEK2 and BRCA1, P= 0.01; CHEK2 and BRCA2, P= 0.01). The interactions are such that the resultant risk of breast cancer is lower than the multiplicative product of the constituent risks, and plausibly reflect the functional relationships of the encoded proteins in DNA repair. These findings have important implications for models of disease predisposition and clinical translation. © The Author 2011. Published by Oxford University Press. All rights reserved. |
| first_indexed | 2024-03-06T19:47:00Z |
| format | Journal article |
| id | oxford-uuid:22a6316f-b029-42f3-975f-2a4dda5f7b3a |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T19:47:00Z |
| publishDate | 2012 |
| record_format | dspace |
| spelling | oxford-uuid:22a6316f-b029-42f3-975f-2a4dda5f7b3a2022-03-26T11:39:58ZGene-gene interactions in breast cancer susceptibilityJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:22a6316f-b029-42f3-975f-2a4dda5f7b3aEnglishSymplectic Elements at Oxford2012Turnbull, CSeal, SRenwick, AWarren-perry, MHughes, DElliott, APernet, DPeock, SAdlard, JBarwell, JBerg, JBrady, ABrewer, CBrice, GChapman, CCook, JDavidson, RDonaldson, ADouglas, FGreenhalgh, LHenderson, AIzatt, LKumar, ALalloo, FMiedzybrodzka, ZThere have been few definitive examples of gene-gene interactions in humans. Through mutational analyses in 7325 individuals, we report four interactions (defined as departures from a multiplicative model) between mutations in the breast cancer susceptibility genes ATM and CHEK2 with BRCA1 and BRCA2 (case-only interaction between ATM and BRCA1/BRCA2 combined, P = 5.9 × 10 -4; ATM and BRCA1, P= 0.01; ATM and BRCA2, P= 0.02; CHEK2 and BRCA1/BRCA2 combined, P = 2.1 × 10 =4; CHEK2 and BRCA1, P= 0.01; CHEK2 and BRCA2, P= 0.01). The interactions are such that the resultant risk of breast cancer is lower than the multiplicative product of the constituent risks, and plausibly reflect the functional relationships of the encoded proteins in DNA repair. These findings have important implications for models of disease predisposition and clinical translation. © The Author 2011. Published by Oxford University Press. All rights reserved. |
| spellingShingle | Turnbull, C Seal, S Renwick, A Warren-perry, M Hughes, D Elliott, A Pernet, D Peock, S Adlard, J Barwell, J Berg, J Brady, A Brewer, C Brice, G Chapman, C Cook, J Davidson, R Donaldson, A Douglas, F Greenhalgh, L Henderson, A Izatt, L Kumar, A Lalloo, F Miedzybrodzka, Z Gene-gene interactions in breast cancer susceptibility |
| title | Gene-gene interactions in breast cancer susceptibility |
| title_full | Gene-gene interactions in breast cancer susceptibility |
| title_fullStr | Gene-gene interactions in breast cancer susceptibility |
| title_full_unstemmed | Gene-gene interactions in breast cancer susceptibility |
| title_short | Gene-gene interactions in breast cancer susceptibility |
| title_sort | gene gene interactions in breast cancer susceptibility |
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