PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation?

ABSTRACT: Hereditary cancer syndromes represent ~10% of all incident cancers. It is important to identify individuals having these disorders because, unlike patients with sporadic cancer, these patients require specialised life-long care, with implications for their families. Importantly, the identification of alterations in cancer-predisposing genes facilitates gene-informed molecular diagnosis, cancer risk assessment and gene-specific clinical management. Moreover, knowledge about gene function in the inherited cancers offers insights towards biological processes pertinent to the more common sporadic cancers. Conversely, without a known gene, clinical management is less precise, and it is impossible to offer predictive testing of family members. PTEN hamartoma tumour syndrome (PHTS) is an umbrella

SUBMITTER: Yehia L 

PROVIDER: S-EPMC7574959 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature