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Most cancers showed moderate cytoplasmic positivity with a granular pattern. Several colorectal cancers and cervical squamous cell carcinomas along with a few ovarian cancers and carcinoids were strongly stained. Several lymphomas and renal cancers were weakly stained or negative.
Most cancer tissues showed weak to moderate cytoplasmic staining. Several gastric cancers as well as cases of cervical, prostate and ovarian cancers showed strong immunoreactivity. A majority of cancer lymphomas, lung, skin, pancreatic and liver cancers were negative.
GENE INFORMATION
Gene name
PSEN1 (HGNC Symbol)
Synonyms
AD3, FAD, PS1, S182
Description
Presenilin 1 (HGNC Symbol)
Entrez gene summary
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]