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- W3095124814 endingPage "790" @default.
- W3095124814 startingPage "775" @default.
- W3095124814 abstract "PTEN hamartoma tumor syndrome (PHTS) is an autosomal dominant disorder characterized by germline PTEN alterations leading to predisposition to hamartomas and an increased risk of breast, thyroid, and other neoplasias. Subsets of Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and autism with macrocephaly have germline PTEN mutations and are captured under the molecular umbrella of PHTS. Approximately 85% of classic CS and 25% of individuals with CS and CS-like phenotype have pathogenic germline PTEN mutations, which increase lifetime risks of breast, thyroid, uterine, renal, and other cancers. PTEN testing and routine enhanced cancer surveillance allow for early detection and treatment of these cancers for mutation positive patients and their relatives, as medically indicated." @default.
- W3095124814 created "2020-11-09" @default.
- W3095124814 creator A5038322204 @default.
- W3095124814 creator A5080120406 @default.
- W3095124814 date "2020-10-30" @default.
- W3095124814 modified "2023-10-12" @default.
- W3095124814 title "<i>PTEN</i> HAMARTOMA TUMOR SYNDROME" @default.
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- W3095124814 doi "https://doi.org/10.1002/9781119432692.ch48" @default.
- W3095124814 hasPublicationYear "2020" @default.