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PTEN/MMAC1 mutations in endometrial cancers.

Publication ,  Journal Article
Risinger, JI; Hayes, AK; Berchuck, A; Barrett, JC
Published in: Cancer Res
November 1, 1997

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.

Duke Scholars

Published In

Cancer Res

ISSN

0008-5472

Publication Date

November 1, 1997

Volume

57

Issue

21

Start / End Page

4736 / 4738

Location

United States

Related Subject Headings

  • Oncology & Carcinogenesis
  • Mutation
  • Microsatellite Repeats
  • Humans
  • Genes, Tumor Suppressor
  • Gene Deletion
  • Female
  • Endometrial Neoplasms
  • Chromosomes, Human, Pair 10
  • Adenocarcinoma
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Risinger, J. I., Hayes, A. K., Berchuck, A., & Barrett, J. C. (1997). PTEN/MMAC1 mutations in endometrial cancers. Cancer Res, 57(21), 4736–4738.
Risinger, J. I., A. K. Hayes, A. Berchuck, and J. C. Barrett. “PTEN/MMAC1 mutations in endometrial cancers.Cancer Res 57, no. 21 (November 1, 1997): 4736–38.
Risinger JI, Hayes AK, Berchuck A, Barrett JC. PTEN/MMAC1 mutations in endometrial cancers. Cancer Res. 1997 Nov 1;57(21):4736–8.
Risinger, J. I., et al. “PTEN/MMAC1 mutations in endometrial cancers.Cancer Res, vol. 57, no. 21, Nov. 1997, pp. 4736–38.
Risinger JI, Hayes AK, Berchuck A, Barrett JC. PTEN/MMAC1 mutations in endometrial cancers. Cancer Res. 1997 Nov 1;57(21):4736–4738.

Published In

Cancer Res

ISSN

0008-5472

Publication Date

November 1, 1997

Volume

57

Issue

21

Start / End Page

4736 / 4738

Location

United States

Related Subject Headings

  • Oncology & Carcinogenesis
  • Mutation
  • Microsatellite Repeats
  • Humans
  • Genes, Tumor Suppressor
  • Gene Deletion
  • Female
  • Endometrial Neoplasms
  • Chromosomes, Human, Pair 10
  • Adenocarcinoma