Significados de germline variant en inglés

Non-tumoural tissue was sequenced to exclude germline variants in cases where available.

Hypothesis: Germline variants of double-strand break repair genes are markers of DTC risk.

Other possible AURKA germline variants were screened by sequencing 10 of the familial cases.

Background: During the process of tumor profiling, there is the potential to detect germline variants.

However, the putative contribution of common NOS3 germline variants to breast cancer risk remained unknown.

Objective: To determine the risks of breast cancer associated with germline variants in cancer predisposition genes.

Additionally, nine FAP-PTC patients had rare germline variants in genes that were previously associated with thyroid carcinoma.

Two ETV6 germline variants gave rise to both AML and ALL, with lineage-specific genetic lesions in the leukemia genomes.

However, the relevance of germline variants in other genes from multigene hereditary cancer testing panels is not well defined.

We identified two germline variants that are predictive of poor patient outcomes by Cox regression, controlling for eleven covariates.

Data were processed through an analytical pipeline to search for rare germline variants in known or novel CRC predisposing genes.

Second is a case illustrating the potential for tumor sequencing to suggest germline variants associated with a hereditary cancer syndrome.

In this study, we investigated the contribution of rare germline variants to risk of malignant pediatric astrocytoma on a population level.

Results: We discovered 72 rare deleterious germline variants in 56 genes shared by all three individuals.

Previous studies have mostly focused on the roles of somatic mutations in tumorigenesis, but how germline variants act is largely unknown.

Results: In total, 32 germline variants in 23 genes were identified and confirmed by Sanger sequencing.