<unk>  is inherited in an autosomal dominant fashion. Germline mutations in PTEN (phosphatase and tensin homolog), a tumor suppressor gene, are found in up to 80% of<unk> 's patients. Several other hereditary cancer syndromes, such as Bannayan-Riley-Ruvalcaba syndrome, have been associated with mutations in the PTEN gene as well. PTEN negatively regulates the cytoplasmic receptor tyrosine kinase pathway, which is responsible for cell growth and survival, and also functions to repair errors in DNA. Thus, in the absence of this protein, cancerous cells are more likely to develop, survive, and proliferate. Recently, it was discovered that germline heterozygous mutations in SEC23B, a component of coat protein complex II vesicles secreted from the endoplasmic reticulum, are associated with<unk> . A possible interplay between PTEN and SEC23B has recently been suggested, given emerging evidence of each having a role in ribosome biogenesis, but this has not been conclusively determined.
Cowden syndrome
Juvenile polyp
Laron syndrome
Fox–Fordyce disease
Jervell and Lange-Nielsen syndrome
Danon disease
Pott disease
Scott syndrome