Oncogene. 2008 Sep 18;27(41):5387-97.

Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.

Source

Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.

Abstract

Germline PTEN (Phosphatase and TENsin homologue deleted on chromosome TEN) mutations predispose to phenotypically diverse disorders that share several overlapping clinical features: Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and Proteus-like syndrome, collectively classified as PTEN hamartoma tumour syndrome (PHTS). The meticulous acquisition and documentation of PHTS phenotypic data at different levels and the profiling of the plethora of genetic changes in PTEN and other genes within the same or related pathways are important in resolving the challenge of discriminating heritable cancers from sporadic PHTS-mimicking clinical features. The characterization of PTEN and PTEN-related pathways from a multidisciplinary perspective underscores the importance of incorporating data from different -omics, which is crucial for the advancement of personalized medicine.

PMID:: 18794875; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

Review

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Medical

Miscellaneous

Mouse Genome Informatics (MGI)

Supplemental Content

Save items

Related citations in PubMed

Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. [Am J Hum Genet. 2006]
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes.
Pezzolesi MG, Li Y, Zhou XP, Pilarski R, Shen L, Eng C. Am J Hum Genet. 2006 Nov; 79(5):923-34. Epub 2006 Sep 29.
Review Cowden syndrome. [Semin Oncol. 2007]
Review Cowden syndrome.
Gustafson S, Zbuk KM, Scacheri C, Eng C. Semin Oncol. 2007 Oct; 34(5):428-34.
PTEN autoregulates its expression by stabilization of p53 in a phosphatase-independent manner. [Cancer Res. 2006]
PTEN autoregulates its expression by stabilization of p53 in a phosphatase-independent manner.
Tang Y, Eng C. Cancer Res. 2006 Jan 15; 66(2):736-42.
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. [Hum Mol Genet. 1999]
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, et al. Hum Mol Genet. 1999 Aug; 8(8):1461-72.
Review PTEN hamartoma tumor syndrome: an overview. [Genet Med. 2009]
Review PTEN hamartoma tumor syndrome: an overview.
Hobert JA, Eng C. Genet Med. 2009 Oct; 11(10):687-94.

See reviews... See all...

Cited by 8 PubMed Central articles

Determining PTEN functional status by network component deduced transcription factor activities. [PLoS One. 2012]
Determining PTEN functional status by network component deduced transcription factor activities.
Tran LM, Chang CJ, Plaisier S, Wu S, Dang J, Mischel PS, Liao JC, Graeber TG, Wu H. PLoS One. 2012; 7(2):e31053. Epub 2012 Feb 8.
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. [Am J Hum Genet. 2011]
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, et al. Am J Hum Genet. 2011 Jan 7; 88(1):42-56. Epub 2010 Dec 30.
Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome. [J Am Acad Dermatol. 2010]
Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome.
Beachkofsky TM, Sapp JC, Biesecker LG, Darling TN. J Am Acad Dermatol. 2010 Nov; 63(5):799-804. Epub 2010 Aug 14.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (GeneRIF)
Gene records that have the current articles as Reference into Function citations (GeneRIFs). NLM staff reviewing the literature while indexing MEDLINE add GeneRIFs manually.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.
Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.
Oncogene. 2008 Sep 18 ;27(41):5387-97.

PubMed
Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese...
Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population.
Nat Genet. 2008 Oct ;40(10):1224-9. Epub 2008 Sep 14 .

PubMed
Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.
Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.
Nat Genet. 2008 Nov ;40(11):1307-12. Epub 2008 Sep 14 .

PubMed
MYH9 is associated with nondiabetic end-stage renal disease in African Americans...
MYH9 is associated with nondiabetic end-stage renal disease in African Americans.
Nat Genet. 2008 Oct ;40(10):1185-92. Epub 2008 Sep 14 .

PubMed
Lack of association between the promoter polymorphism of the MTNR1A gene and ado...
Lack of association between the promoter polymorphism of the MTNR1A gene and adolescent idiopathic scoliosis.
Spine (Phila Pa 1976). 2008 Sep 15 ;33(20):2204-7.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: