PTEN: One Gene, Many Syndromes

C Eng - Human mutation, 2003 - Wiley Online Library
Abstract PTEN, on 10q23. 3, encodes a major lipid phosphatase which signals down the
phosphoinositol‐3‐kinase/Akt pathway and effects G1 cell cycle arrest and apoptosis …

Protean PTEN: form and function

KA Waite, C Eng - The American Journal of Human Genetics, 2002 - cell.com
Germline mutations distributed across the PTEN tumor-suppressor gene have been found to
result in a wide spectrum of phenotypic features. Originally shown to be a major …

Altered PTEN expression as a diagnostic marker for the earliest endometrial precancers

GL Mutter, MC Lin, JT Fitzgerald, JB Kum… - Journal of the …, 2000 - academic.oup.com
Background: PTEN tumor suppressor gene mutations are the most frequent genetic lesions
in endometrial adenocarcinomas of the endometrioid subtype. Testing the hypothesis that …

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

DJ Marsh, JB Kum, KL Lunetta… - Human molecular …, 1999 - academic.oup.com
Germline mutations in the tumour suppressor gene PTEN have been implicated in two
hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and …

Will the real Cowden syndrome please stand up: revised diagnostic criteria

C Eng - Journal of medical genetics, 2000 - jmg.bmj.com
Cowden syndrome (CS, MIM 158350) is an autosomal dominant disorder with age related
penetrance characterised by multiple hamartomas and a high risk of breast, thyroid, and …

Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease

SA Backman, V Stambolic, A Suzuki, J Haight, A Elia… - Nature …, 2001 - nature.com
Initially identified in high-grade gliomas, mutations in the PTEN tumor-suppressor are also
found in many sporadic cancers and a few related autosomal dominant hamartoma …

Thyroid carcinoma

RM Tuttle, DW Ball, D Byrd, RA Dilawari… - Journal of the National …, 2010 - jnccn.org
Thyroid nodules are approximately 4 times more common in women than in men. Palpable
nodules increase in frequency throughout life, reaching a prevalence of approximately 5% in …

Impaired Fas Response and Autoimmunity in Pten+/− Mice

AD Cristofano, P Kotsi, YF Peng, C Cordon-Cardo… - Science, 1999 - science.org
Inactivating mutations in the PTEN tumor suppressor gene, encoding a phosphatase, occur
in three related human autosomal dominant disorders characterized by tumor susceptibility …

Mutations of the human PTEN gene

D Bonneau, M Longy - Human mutation, 2000 - Wiley Online Library
PTEN (phosphatase and tensin homolog deleted on chromosome ten), a recently
discovered tumor suppressor gene, appears to negatively control the phosphoinositide 3 …

Cowden syndrome: a critical review of the clinical literature

R Pilarski - Journal of genetic counseling, 2009 - Springer
Cowden syndrome (CS) is a multi-system disease involving hamartomatous overgrowth of
tissues of all three embryonic origins and increased risks for thyroid, breast and possibly …