Imperial College London
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Professor Mark Layton

Faculty of Medicine, Department of Immunology and Inflammation

Professor of Practice (Haematology)
 
 
 
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Contact

 

+44 (0)20 3313 2173m.layton

 
 
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Assistant

 

Mrs Lisa Pape +44 (0)20 3313 1320

 
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Location

 

4N3ACommonwealth BuildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Chaudhry:2016:10.1080/2162402X.2016.1179415,
author = {Chaudhry, MS and Gilmour, KC and House, IG and Layton, M and Panoskaltsis, N and Sohal, M and Trapani, JA and Voskoboinik, I},
doi = {10.1080/2162402X.2016.1179415},
journal = {OncoImmunology},
title = {Missense mutations in the perforin (PRF1) gene as a cause of hereditary cancer predisposition},
url = {http://dx.doi.org/10.1080/2162402X.2016.1179415},
volume = {5},
year = {2016}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Perforin, a pore-forming toxin released from secretory granules of NK cells andCTLs, is essential for their cytotoxic activity against infected or cancerous targetcells. Bi-allelic loss-of-function mutations in the perforin gene are invariablyassociated with a fatal immunoregulatory disorder, familial haemophagocyticlymphohistiocytosis type 2 (FHL2), in infants. More recently, it has also beenrecognized that partial loss of perforin function can cause disease in later life,including delayed onset FHL2 and haematological malignancies. Herein wereport a family in which a wide range of systemic inflammatory and neoplasticmanifestations have occurred across three generations. We found that diseasewas linked to two missense perforin gene mutations (encoding A91V, R410W)that cause protein misfolding and partial loss of activity. These cases link thepartial loss of perforin function with some solid tumours that are known to becontrolled by the immune system, as well as haematological cancers. Ourfindings also demonstrate that perforin gene mutations can contribute tohereditary cancer predisposition.
AU  - Chaudhry,MS
AU  - Gilmour,KC
AU  - House,IG
AU  - Layton,M
AU  - Panoskaltsis,N
AU  - Sohal,M
AU  - Trapani,JA
AU  - Voskoboinik,I
DO  - 10.1080/2162402X.2016.1179415
PY  - 2016///
SN  - 2162-402X
TI  - Missense mutations in the perforin (PRF1) gene as a cause of hereditary cancer predisposition
T2  - OncoImmunology
UR  - http://dx.doi.org/10.1080/2162402X.2016.1179415
UR  - http://hdl.handle.net/10044/1/32248
VL  - 5
ER  -
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