9 Matching Annotations
- May 2022
-
www-ncbi-nlm-nih-gov.proxy-bloomu.klnpa.org www-ncbi-nlm-nih-gov.proxy-bloomu.klnpa.org
-
ICER1 gen
location
-
DICER1 syndrome
genename
-
disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene
effects miRNA
-
ers included, comparedto the control population: 8% and 0% for women and men, respectively [ 23 ]. Specifically, a recent studyindicated a correlation between truncating germline DICER1 mutations and familial multinodulargoiter, among other cancers [24]. Women are more likely to develop thyroid cancer than men, regardlessof DICER1 variant status [25 ]. Frequent malignant neoplasms of the endocrine system [26 ] such as
family history
-
Another study confirmed this, indicating that more than 60% of ovarianSertoli–Leydig cell tumors diagnosed harbored DICER1 mutations within the RNase III domain
the same mutation
-
History: Sertoli–Leydig cell tumor.
the case study I referenced in the paper
-
e mutation was found to be heterozygous forgermline but hemizygous in the tumor itself
zygosity
-
tumorigenesi
second mutation
-
, located on chromosome 14, position q32.1
location
-