英语翻译Germline PTEN mutations are present in approximately 80%

英语翻译
Germline PTEN mutations are present in
approximately 80% of patients with Cowden syndrome
.This disease,which is also known as multiple
hamartoma syndrome,is a familial syndrome that includes
diverse types of cancer conditions including early onset
breast cancer.Mutations have been reported to occur at
PTEN in breast cancer in varying frequencies (5-21%)
.Loss of heterozygosity (LOH) is probably
more common (30%) .Mutations at certain residues
of PTEN,that are associated with Cowden’s disease,
affect the ubiquitination of PTEN and prevent nuclear
translocation.These mutations leave the phosphatase
activity intact .Inhibition of PTEN activity leads to
centromere breakage and chromosome instability.
Thus PTEN has diverse activities.