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Melanoma, cervical, skin, colorectal and breast cancers as well as several ovarian and urothelial cancers showed moderate nuclear positivity in a fraction of cells. Other cancer cells were in general weakly stained or negative.
GENE INFORMATION
Gene name
FAM111B (HGNC Symbol)
Synonyms
CANP
Description
Family with sequence similarity 111, member B (HGNC Symbol)
Entrez gene summary
This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin‐like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014]