RGD Reference Report - PTEN/MMAC1 mutations in endometrial cancers. - Rat Genome Database

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PTEN/MMAC1 mutations in endometrial cancers.

Authors: Risinger, J I  Hayes, A K  Berchuck, A  Barrett, J C 
Citation: Risinger JI, etal., Cancer Res. 1997 Nov 1;57(21):4736-8.
RGD ID: 12832753
Pubmed: PMID:9354433   (View Abstract at PubMed)

Endometrial carcinomas represent the most common gynecological cancer in the United States, yet the molecular genetic events that underlie the development of these tumors remain obscure. Chromosome 10 is implicated in the pathogenesis of endometrial carcinoma based on loss of heterozygosity (LOH), comparative genomic hybridization, and cytogenetics. Recently, a potential tumor suppressor gene, PTEN/MMAC1, with homology to dual-specificity phosphatases and to the cytoskeletal proteins tensin and auxillin was identified on chromosome 10. This gene is mutated in several types of advanced tumors that display frequent LOH on chromosome 10, most notably glioblastomas. Additionally, germ-line mutations of PTEN/MMAC1 are responsible for several familial neoplastic disorders, including Cowden disease and Bannayan-Zonana syndrome. Because this locus is included in the region of LOH in many endometrial carcinomas, we examined 70 endometrial carcinomas for alterations in PTEN/MMAC1. Somatic mutations were detected in 24 cases (34%) including 21 cases that resulted in premature truncation of the protein, 2 tumors with missense alterations in the conserved phosphatase domain, and 1 tumor with a large insertion. These data indicate that PTEN/MMAC1 is more commonly mutated than any other known gene in endometrial cancers.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PTENHumanEndometrial Neoplasms  IAGP DNA:mutations:multiple (human)RGD 
PtenRatEndometrial Neoplasms  ISOPTEN (Homo sapiens)DNA:mutations:multiple (human)RGD 
PtenMouseEndometrial Neoplasms  ISOPTEN (Homo sapiens)DNA:mutations:multiple (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PTENHumanAbnormal endometrium morphology  IAGP DNA:mutations:multipleRGD 
Objects Annotated

Genes (Rattus norvegicus)
Pten  (phosphatase and tensin homolog)

Genes (Mus musculus)
Pten  (phosphatase and tensin homolog)

Genes (Homo sapiens)
PTEN  (phosphatase and tensin homolog)


Additional Information