Skip to main content
construction release_alert
Scholars@Duke will be undergoing maintenance April 11-15. Some features may be unavailable during this time.
cancel
Journal cover image

Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome.

Publication ,  Journal Article
Salo-Mullen, EE; Shia, J; Brownell, I; Allen, P; Girotra, M; Robson, ME; Offit, K; Guillem, JG; Markowitz, AJ; Stadler, ZK
Published in: Fam Cancer
September 2014

Cowden syndrome is an autosomal dominant condition caused by pathogenic mutations in the phosphatase and tensin homolog (PTEN) gene. Only a small proportion of identified pathogenic mutations have been reported to be large deletions and rearrangements. We report on a female patient with a previous history of breast ductal carcinoma in situ who presented to our institution for management of gastrointestinal hamartomatous polyposis. Although several neoplastic predisposition syndromes were considered, genetic evaluation determined that the patient met clinical diagnostic criteria for Cowden syndrome. Array-based comparative genomic hybridization was performed and revealed a mosaic partial deletion of the PTEN gene. Follow-up clinical history including bilateral thyroid nodules, dermatological findings, and a new primary "triple-negative" adenocarcinoma of the contralateral breast are discussed. We highlight the need for recognition and awareness of mosaicism as it may provide an explanation for variable phenotypic presentations and may alter the genetic counseling risk assessment of affected individuals and family members.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Fam Cancer

DOI

EISSN

1573-7292

Publication Date

September 2014

Volume

13

Issue

3

Start / End Page

459 / 467

Location

Netherlands

Related Subject Headings

  • Sequence Deletion
  • Pedigree
  • PTEN Phosphohydrolase
  • Oncology & Carcinogenesis
  • Mosaicism
  • Humans
  • Hamartoma Syndrome, Multiple
  • Gastrointestinal Neoplasms
  • Female
  • Comparative Genomic Hybridization
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Salo-Mullen, E. E., Shia, J., Brownell, I., Allen, P., Girotra, M., Robson, M. E., … Stadler, Z. K. (2014). Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome. Fam Cancer, 13(3), 459–467. https://doi.org/10.1007/s10689-014-9709-4
Salo-Mullen, Erin E., Jinru Shia, Isaac Brownell, Peter Allen, Monica Girotra, Mark E. Robson, Kenneth Offit, Jose G. Guillem, Arnold J. Markowitz, and Zsofia K. Stadler. “Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome.Fam Cancer 13, no. 3 (September 2014): 459–67. https://doi.org/10.1007/s10689-014-9709-4.
Salo-Mullen EE, Shia J, Brownell I, Allen P, Girotra M, Robson ME, et al. Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome. Fam Cancer. 2014 Sep;13(3):459–67.
Salo-Mullen, Erin E., et al. “Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome.Fam Cancer, vol. 13, no. 3, Sept. 2014, pp. 459–67. Pubmed, doi:10.1007/s10689-014-9709-4.
Salo-Mullen EE, Shia J, Brownell I, Allen P, Girotra M, Robson ME, Offit K, Guillem JG, Markowitz AJ, Stadler ZK. Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome. Fam Cancer. 2014 Sep;13(3):459–467.
Journal cover image

Published In

Fam Cancer

DOI

EISSN

1573-7292

Publication Date

September 2014

Volume

13

Issue

3

Start / End Page

459 / 467

Location

Netherlands

Related Subject Headings

  • Sequence Deletion
  • Pedigree
  • PTEN Phosphohydrolase
  • Oncology & Carcinogenesis
  • Mosaicism
  • Humans
  • Hamartoma Syndrome, Multiple
  • Gastrointestinal Neoplasms
  • Female
  • Comparative Genomic Hybridization