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2,377 results

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Page 1
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L, Ni Y, Sesock K, Niazi F, Fletcher B, Chen HJL, LaFramboise T, Eng C. Yehia L, et al. PLoS Genet. 2018 Apr 23;14(4):e1007352. doi: 10.1371/journal.pgen.1007352. eCollection 2018 Apr. PLoS Genet. 2018. PMID: 29684080 Free PMC article.
Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management. ...We conducted a 4-year multicenter prospective study of inciden …
Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) …
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.
Ghusayni R, Sachdev M, Gallentine W, Mikati MA, McDonald MT. Ghusayni R, et al. Epileptic Disord. 2018 Feb 1;20(1):30-34. doi: 10.1684/epd.2018.0954. Epileptic Disord. 2018. PMID: 29444762
Here, we report a patient with Bannayan-Riley-Ruvalcaba syndrome who also had hemimegalencephaly and in whom the hemimegalencephaly was evident well before presentation of the characteristic manifestations of Bannayan-Riley-Ruvalcaba …
Here, we report a patient with Bannayan-Riley-Ruvalcaba syndrome who also had hemimegalencephaly and in whom the …
A systematic review of Bannayan - Riley - Ruvalcaba syndrome.
Kapačinskaitė M, Stratica N, Adomaitienė I, Rascon J, Vaišnytė B. Kapačinskaitė M, et al. Sci Rep. 2024 Sep 10;14(1):21119. doi: 10.1038/s41598-024-71991-2. Sci Rep. 2024. PMID: 39256443 Free PMC article.
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare overgrowth condition caused by a pathogenic variant in the phosphatase and tensin homolog (PTEN) gene and belongs to a group of disorders called PTEN hamartoma tumor syndrome (PHTS). ...
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare overgrowth condition caused by a pathogenic variant in the ph …
Bannayan-Riley-Ruvalcaba syndrome with gingival hyperpigmentation and facial papules.
Niklinska EB, Lyons EM, Hicks A, Zwerner JP, Albers SE. Niklinska EB, et al. Pediatr Dermatol. 2021 Sep;38(5):1351-1353. doi: 10.1111/pde.14691. Epub 2021 Jul 14. Pediatr Dermatol. 2021. PMID: 34259361
One of the distinctive cutaneous manifestations of Bannayan-Riley-Ruvalcaba syndrome (BRRS), a PTEN hamartoma tumor syndrome, is penile pigmented macules. We present a 13-year-old boy with gingival hyperpigmentation along with facial and …
One of the distinctive cutaneous manifestations of Bannayan-Riley-Ruvalcaba syndrome (BRRS), a PTEN hamartoma …
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C. Tan MH, et al. Am J Hum Genet. 2011 Jan 7;88(1):42-56. doi: 10.1016/j.ajhg.2010.11.013. Epub 2010 Dec 30. Am J Hum Genet. 2011. PMID: 21194675 Free PMC article.
Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome are allelic, defined by germline PTEN mutations, and collectively referred to as PTEN hamartoma tumor syndrome. ...
Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome are allelic, defined by germline PTEN mutation …
[Bannayan-Riley-Rubalcaba syndrome in pediatrics].
Sainz de la Peña-Hernández B, Guillén-Palacios BE. Sainz de la Peña-Hernández B, et al. Bol Med Hosp Infant Mex. 2021 Apr 27;78(3):245-250. doi: 10.24875/BMHIM.20000172. Bol Med Hosp Infant Mex. 2021. PMID: 33906215 Free article. Spanish.
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family.
Perriard J, Saurat JH, Harms M. Perriard J, et al. J Am Acad Dermatol. 2000 Feb;42(2 Pt 2):348-50. doi: 10.1016/s0190-9622(00)90109-9. J Am Acad Dermatol. 2000. PMID: 10640930 Review.
We describe a family with the unusual association of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome. The father has characteristic mucocutaneous features that are palmoplantar keratoses, multiple facial papules, oral papillomatoses, lipo …
We describe a family with the unusual association of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome. The …
Dysmorphology.
Kim AY, Bodurtha JN. Kim AY, et al. Pediatr Rev. 2019 Dec;40(12):609-618. doi: 10.1542/pir.2018-0331. Pediatr Rev. 2019. PMID: 31792044 Review. No abstract available.
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
Chen HJ, Romigh T, Sesock K, Eng C. Chen HJ, et al. Hum Mutat. 2017 Oct;38(10):1372-1377. doi: 10.1002/humu.23288. Epub 2017 Jul 17. Hum Mutat. 2017. PMID: 28677221 Free PMC article.
Germline mutations in the tumor-suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, and autism. Evidence-based classification of PTEN variants as either deleterious or benign is urgently needed …
Germline mutations in the tumor-suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), Bannayan-Riley-R …
2,377 results