Linked Life Data

10232408

Source:http://linkedlifedata.com/resource/pubmed/id/10232408

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1999-6-22
pubmed:abstractText
Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study Squamous cell carcinoma (SCC) is a frequent complication in the severe, recessively inherited forms of dystrophic epidermolysis bullosa (RDEB), however, only rarely reported in dominant DEB. Although the SCCs in RDEB are frequently well-differentiated by histopathology, they often have a poor prognosis due to multicentricity, rapid invasiveness, and development of distant metastases. In this study, we sought to determine the molecular basis of DDEB in a family with the unusual occurrence of SCCs. Specifically, a large DDEB family with 2 individuals being affected with SCC was analyzed for potential mutations in the type VII collagen gene (COL7A1) by heteroduplex scanning and direct nucleotide sequencing of PCR amplified segments of the gene. This mutation detection strategy disclosed a G-->A transition at nucleotide position 6,235 which resulted in substitution of a glycine by arginine within the collagenous region of COL7A1. This study establishes, for the first time, the molecular basis in a family with DDEB/SCC. Clinically, this study reemphasizes the importance of vigilance in surveying DEB patients, not only those with recessive but also with dominant inheritance, for SCC.
pubmed:grant
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0906-6705
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
146-52
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study.
pubmed:affiliation
Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107-5541, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't