The genetic basis of Cowden’s syndrome: three novel mutations in PTEN/MMAC1/TEP1 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1998-04

AUTHORS

H. C. Tsou, Xiao Li Ping, Xiao Xun Xie, Alexandra C. Gruener, Hong Zhang, R. Nini, Karen Swisshelm, Virginia Sybert, Terry M. Diamond, Rebecca Sutphen, M. Peacocke

ABSTRACT

Cowden's syndrome (CS) is an autosomal dominant disorder associated with an increased risk of developing benign and malignant tumors in a variety of tissues, including the skin, thyroid, breast and brain. Women with CS are felt to have an increased risk of developing breast cancer, and virtually all women with CS develop bilateral fibrocystic disease of the breast. Recently, a series of germline mutations have been identified from CS families in a gene known as PTEN/MMAC1/TEP1. In this study, we used heteroduplex analysis and direct sequencing analysis and identified three novel germline mutations in the PTEN/MMAC1/TEP1 coding sequence from unrelated individuals with CS. We report a de novo transition (T-->C) at nucleotide 335 in exon 5. This missense mutation resulted in a leucine to proline (CTA to CCA) change at codon 112. We also describe a novel splice site mutation (801+2T-->G) in intron 7 that caused exon skipping in PTEN/MMAC1/TEP1 mRNA. The third mutation we report is a missense mutation, consisting of a transition (T-->C) at nucleotide 202 in exon 3, resulting in a tyrosine to histidine (TAC to CAC) change at codon 68. Finally, we also detected a rare polymorphism in exon 7 of the PTEN/MMAC1/TEP1 coding sequence. These data confirm the observation that mutations of the PTEN/MMAC1/TEP1 coding sequence are responsible for at least some cases of CS, and further define the spectrum of mutations in this autosomal dominant disorder. More... »

PAGES

467-473

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s004390050723

DOI

http://dx.doi.org/10.1007/s004390050723

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1022655456

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9600246


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