| pubmed-article:19965908 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19965908 | lifeskim:mentions | umls-concept:C0439660 | lld:lifeskim |
| pubmed-article:19965908 | lifeskim:mentions | umls-concept:C0024623 | lld:lifeskim |
| pubmed-article:19965908 | lifeskim:mentions | umls-concept:C0013081 | lld:lifeskim |
| pubmed-article:19965908 | lifeskim:mentions | umls-concept:C0694872 | lld:lifeskim |
| pubmed-article:19965908 | lifeskim:mentions | umls-concept:C0205219 | lld:lifeskim |
| pubmed-article:19965908 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:19965908 | pubmed:dateCreated | 2010-2-5 | lld:pubmed |
| pubmed-article:19965908 | pubmed:abstractText | Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer susceptibility syndrome characterized by early-onset diffuse gastric cancer (DGC) and lobular breast cancer. E-cadherin (CDH1) heterozygous germline mutations and deletions are found in 40% of families. Independent of CDH1 alterations, most HDGC tumours display mislocalized or absent E-cadherin immunoexpression, therefore undetected defects at the CDH1 locus may still be involved. We aimed at determining whether CDH1 mutation-negative probands display germline CDH1 allele-specific expression (ASE) imbalance, using a single-nucleotide primer extension-based procedure and tried to uncover the underlying molecular defect. CDH1 ASE analysis was performed using three intragenic SNPs in RNA extracted from the blood of 21 cancer-free individuals and 22 HDGC probands (5 CDH1 mutation carriers and 17 CDH1 negative). Germline promoter methylation, deletions and haplotype-related susceptibility at the CDH1 locus were analysed. Both CDH1 alleles from cancer-free individuals displayed equivalent expression levels, whereas monoallelic CDH1 expression or high allelic expression imbalance (AI) was present in 80% of CDH1 mutant and 70.6% (n = 12) of CDH1-negative HDGC probands. Germline deletions and promoter hypermethylation were found in 25% of probands displaying high CDH1 AI. No particular haplotype was found to be associated with CDH1 high AI. Germline CDH1 AI is highly frequent among CDH1 mutation-negative probands but was not seen in cancer-free individuals. This implicates the CDH1 locus in the majority of mutation-negative HDGC families. | lld:pubmed |
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| pubmed-article:19965908 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19965908 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19965908 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:19965908 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19965908 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:19965908 | pubmed:issn | 1460-2083 | lld:pubmed |
| pubmed-article:19965908 | pubmed:author | pubmed-author:SerucaRaquelR | lld:pubmed |
| pubmed-article:19965908 | pubmed:author | pubmed-author:OliveiraCarla... | lld:pubmed |
| pubmed-article:19965908 | pubmed:author | pubmed-author:HuntsmanDavid... | lld:pubmed |
| pubmed-article:19965908 | pubmed:author | pubmed-author:GusmãoLeonorL | lld:pubmed |
| pubmed-article:19965908 | pubmed:author | pubmed-author:SeixasSusanaS | lld:pubmed |
| pubmed-article:19965908 | pubmed:author | pubmed-author:RochaJorgeJ | lld:pubmed |
| pubmed-article:19965908 | pubmed:author | pubmed-author:SenzJanineJ | lld:pubmed |
| pubmed-article:19965908 | pubmed:author | pubmed-author:CarvalhoJoana... | lld:pubmed |
| pubmed-article:19965908 | pubmed:author | pubmed-author:OliveiraPatrí... | lld:pubmed |
| pubmed-article:19965908 | pubmed:author | pubmed-author:PinheiroHugoH | lld:pubmed |
| pubmed-article:19965908 | pubmed:author | pubmed-author:Bordeira-Carr... | lld:pubmed |
| pubmed-article:19965908 | pubmed:author | pubmed-author:InácioPatríci... | lld:pubmed |
| pubmed-article:19965908 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19965908 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:19965908 | pubmed:volume | 19 | lld:pubmed |
| pubmed-article:19965908 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19965908 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19965908 | pubmed:pagination | 943-52 | lld:pubmed |
| pubmed-article:19965908 | pubmed:dateRevised | 2011-7-25 | lld:pubmed |
| pubmed-article:19965908 | pubmed:meshHeading | pubmed-meshheading:19965908... | lld:pubmed |
| pubmed-article:19965908 | pubmed:meshHeading | pubmed-meshheading:19965908... | lld:pubmed |
| pubmed-article:19965908 | pubmed:meshHeading | pubmed-meshheading:19965908... | lld:pubmed |
| pubmed-article:19965908 | pubmed:meshHeading | pubmed-meshheading:19965908... | lld:pubmed |
| pubmed-article:19965908 | pubmed:meshHeading | pubmed-meshheading:19965908... | lld:pubmed |
| pubmed-article:19965908 | pubmed:meshHeading | pubmed-meshheading:19965908... | lld:pubmed |
| pubmed-article:19965908 | pubmed:meshHeading | pubmed-meshheading:19965908... | lld:pubmed |
| pubmed-article:19965908 | pubmed:meshHeading | pubmed-meshheading:19965908... | lld:pubmed |
| pubmed-article:19965908 | pubmed:meshHeading | pubmed-meshheading:19965908... | lld:pubmed |
| pubmed-article:19965908 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:19965908 | pubmed:articleTitle | Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer. | lld:pubmed |
| pubmed-article:19965908 | pubmed:affiliation | Institute of Molecular Pathology and Immunology, University of Porto (IPATIMUP), Porto 4200-465, Portugal. | lld:pubmed |
| pubmed-article:19965908 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19965908 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:999 | entrezgene:pubmed | pubmed-article:19965908 | lld:entrezgene |
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