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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2007-11-2
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pubmed:abstractText |
Hereditary diffuse gastric cancer (HDGC) is a cancer susceptibility syndrome caused by E-cadherin germline mutations. One-third of these mutations are of the missense type, representing a burden in genetic counselling. A new germline missense mutation (P373L) was recently identified in a HDGC Italian family. The present work aimed at addressing the disease-causative nature of the P373L mutant.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1532-2157
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pubmed:author |
pubmed-author:CirnesLL,
pubmed-author:CorreiaJJ,
pubmed-author:CorsoGG,
pubmed-author:MarrelliDD,
pubmed-author:NovaisMM,
pubmed-author:OliveiraCC,
pubmed-author:ParedesJJ,
pubmed-author:PedrazzaniCC,
pubmed-author:RovielloFF,
pubmed-author:SerucaRR,
pubmed-author:SurianoGG
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pubmed:issnType |
Electronic
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pubmed:volume |
33
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1061-7
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pubmed:meshHeading |
pubmed-meshheading:17434710-Amino Acid Substitution,
pubmed-meshheading:17434710-Cadherins,
pubmed-meshheading:17434710-Carrier State,
pubmed-meshheading:17434710-Cell Adhesion,
pubmed-meshheading:17434710-Cell Line, Tumor,
pubmed-meshheading:17434710-DNA Methylation,
pubmed-meshheading:17434710-Germ-Line Mutation,
pubmed-meshheading:17434710-Humans,
pubmed-meshheading:17434710-Mutation, Missense,
pubmed-meshheading:17434710-Neoplasm Invasiveness,
pubmed-meshheading:17434710-Polymorphism, Single Nucleotide,
pubmed-meshheading:17434710-Stomach Neoplasms
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pubmed:year |
2007
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pubmed:articleTitle |
Characterization of the P373L E-cadherin germline missense mutation and implication for clinical management.
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pubmed:affiliation |
Department of Human Pathology and Oncology, Division of Surgical Oncology, University of Siena, Siena, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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