Journal article
Perturbation of PALB2 function by the T413S mutation found in small cell lung cancer
- Abstract:
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Background: Germline mutations in the PALB2 gene are associated with the genetic disorder Fanconi anaemia and increased predisposition to cancer. Disease-associated variants are mainly protein-truncating mutations, whereas a few missense substitutions are reported to perturb its interaction with breast cancer susceptibility proteins BRCA1 and BRCA2, which play essential roles in homology-directed repair (HDR). More recently, PALB2 was shown to associate with active genes independently of B...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Accepted manuscript, pdf, 4.1MB)
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- Publisher copy:
- 10.12688/wellcomeopenres.13113.1
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Authors
Funding
Bibliographic Details
- Publisher:
- F1000Research Publisher's website
- Journal:
- Wellcome Open Research Journal website
- Volume:
- 2
- Issue:
- 110
- Publication date:
- 2017-11-14
- Acceptance date:
- 2017-11-10
- DOI:
- ISSN:
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2398-502X
- Source identifiers:
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744816
Item Description
Terms of use
- Copyright holder:
- © 2017 Bleuyard JY et al
- Copyright date:
- 2017
- Notes:
- This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- Licence:
- CC Attribution (CC BY)
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