英语翻译Germline PTEN mutations are present in approximately 80%
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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.
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.
种系PTEN基因突变存在于约80%的错构瘤综合征病人身上.这种病也是一种多元化的综合病,是一种遗传综合病,它能诱发多种恶性肿瘤,例如早期病发的乳腺癌,.这种基因突变发生导致的乳腺癌发生概率有不同程度的变化(5-21%).诱发的杂合性缺失(LOH)也较为普遍.PTEN剩余物的基因突变与考登氏病有关联,它影响PTEN的蛋白化作用并且阻止细胞核的运输作用.这种突变影响不了磷酸酶的活动.抑制PTEN活动课导致着丝点的破损,和染色体的不稳定.所以PTEN有各种各样的不稳定性.
英语翻译Germline PTEN mutations are present in approximately 80%
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