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Genomic DNAs for germ line mutation analyses were obtained from the buffy coat and resected tumor.
About 80% of patients with CS have an identifiable germ line mutation in the phosphatase and tensin homolog (PTEN) gene.
The hereditary group present at a younger age, usually have bilateral disease, and have an underlying germ line mutation of the RB1 gene.
PTEN sequencing demonstrated that a germ line mutation c. 288 insertion A was found in exon 8, which caused a frameshift mutation (p.V290fs*8).
Hence germ line mutation rates provide evolutionary estimates for haplogroups biased toward much younger age [26].
The patients' germ line mutation is a single nucleotide deletion in exon 10 (1305delG) [25].
Similar(16)
In 20 of 92 patients a germ-line mutation (GLM) was detected.
Germ-line mutation of either TSC gene leads to the development of the heritable disorder TSC.
To evaluate the accuracy of algorithms for predicting BRCA1/2 germ-line mutation carrier probability, and to identify factors that could improve their performance among Brazilian women with ovarian cancer (OC).
On-line mutation prediction tools have been available for many years.
In conclusion, our data establish the occurrence of a Warburg effect specifically in PH/PGL harboring a VHL germ-line mutation.
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