| Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome. | |
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MedLine Citation:
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PMID: 20735442 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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BRAF, the protein product of BRAF, is a serine/threonine protein kinase and one of the direct downstream effectors of Ras. Somatic mutations in BRAF occur in numerous human cancers, whereas germline BRAF mutations cause cardio-facio-cutaneous (CFC) syndrome. One recurrent somatic mutation, p.V600E, is frequently found in several tumor types, such as melanoma, papillary thyroid carcinoma, colon cancer, and ovarian cancer. However, a germline mutation affecting codon 600 has never been described. Here, we present a patient with CFC syndrome and a de novo germline mutation involving codon 600 of BRAF, thus providing the first evidence that a pathogenic germline mutation involving this critical codon is not only compatible with development but can also cause the CFC phenotype. In vitro functional analysis shows that this mutation, which replaces a valine with a glycine at codon 600 (p.V600G), leads to increased ERK and ELK phosphorylation compared to wild-type BRAF but is less strongly activating than the cancer-associated p.V600E mutation. |
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Authors:
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K J Champion; C Bunag; A L Estep; J R Jones; C H Bolt; R C Rogers; K A Rauen; D B Everman |
Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Clinical genetics Volume: 79 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-04-07 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
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Languages: eng Pagination: 468-74 Citation Subset: IM |
Copyright Information:
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© 2010 John Wiley & Sons A/S. |
Affiliation:
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Greenwood Genetic Center, Greenwood, SC 29646, USA. |
Export Citation:
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Descriptor/Qualifier:
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| Grant Support | |
ID/Acronym/Agency:
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HD048502/HD/NICHD NIH HHS; UL1 RR024131/RR/NCRR NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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