Sentences with phrase «germline variants»
"Germline variants" refer to differences or changes in the DNA that are inherited from our parents and can be passed down to future generations. These variants can occur in the reproductive cells (germline) and may affect our traits, characteristics, or predispositions to certain diseases. Full definition
You found it by looking for rare germline variants in a cohort of patients with a specific form of cancer.
massgenomics.org
Diagnostic Cancer Genome Sequencing and the Contribution of Germline Variants.
They identified several germline variants, among them three in ENG, two in BMPR1A, one in PTEN, and one in SMAD4.
Consistent with previous studies, the authors found pathogenic germline variants in 7.6 % of their pediatric cases.
This is the first evidence of a germline variant in TP53 associated with cancer predisposition beyond LFS and LFL.
Similarly, in cancer genomics, a candidate somatic mutation observed at the position of a known polymorphism typically indicated a germline variant that was under - called in the normal sample.
The authors identified 453 potentially druggable events (PDEs) in 59 genes, 3 % of which were germline variants.
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
In contrast to germline variants, somatic variants are not propagated to the whole individual but to a subpopulation of cells in the body, with the final consequence that adult human tissues are a mosaic of genetically different cells.