Brioude F, Toutain A, Giabicani E, et al. Overgrowth syndromes — clinical and molecular aspects and tumor risk. Nat
Rev Endocrinol. 2019;15(5):299–311.
Janku F, Yap TA, Meric-Bernstam F. Targeting the PI3K
pathway in cancer: are we making headway? Nat Rev Clin
Oncol. 2018;15(5):273–291.
Macken WL, Tischkowitz M, Lachlan KL. PTEN Hamartoma
tumor syndrome in childhood: a review of the clinical
literature. Am J Med Genet Part...
Nelen MR, Kremer H, Konings IB, et al. Novel PTEN mutations
in patients with Cowden disease: absence of clear genotype–
phenotype correlations....
Mester JL, Zhou M, Prescott N, et al. Papillary renal cell
carcinoma is associated with PTEN hamartoma tumor
syndrome. Urology. 2012;79(5)...
Mester J, Eng C. PTEN hamartoma tumor syndrome. Handb Clin
Neurol. 2015;132:129–137.
Pilarski R. PTEN hamartoma tumor syndrome: a clinical
overview. Cancers (Basel). 2019 Jun 18;11(6):844. https://doi.org/
10.3390/cancers11060844.
Casado B, Gomez-Fernández C, Feito M, et al. Pápulas
verrugosas perianales en paciente con síndrome de
Bannayan-Riley-Ruvalcaba. Actas Dermosifiliogr....
Iskandarli M, Yaman B, Aslan A. A case of Bannayan–Riley–
Ruvalcaba syndrome. A new clinical finding and brief review.
Int J Dermatol. 2016;55:1040–1043....
Pilarski R, Burt R, Kohlman W, et al. Cowden syndrome and
the PTEN hamartoma tumor syndrome: Systematic review
and revised diagnostic criteria....
Halevy S, Sandbank M, Pick AI, et al. Cowden’s disease in three
siblings: electron-microscope and immunological studies.
Acta Derm Venereol....
Yehia L, Ngeow J, Eng C. PTEN-opathies: From biological
insights to evidence-based precision medicine. J Clin Invest.
2019 Feb;129(2):452–464.
Tan M-H, Mester JL, Ngeow J, et al. Lifetime cancer risks in
individuals with germline PTEN mutations. Clin Cancer Res an
Off J Am Assoc Cancer...
Manning M, Hudgins L. Array-based technology and
recommendations for utilization in medical genetics practice
for detection of chromosomal...
Tan M-H, Mester J, Peterson C, et al. A clinical scoring system
for selection of patients for PTEN mutation testing is proposed
on the basis...
