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Significats de germline variant en anglès
Inherited genetic variation.
Sinònims
Examples for "germline mutation"
Examples for "germline mutation"
1
Four cases showed a CTNNB1 mutation and one an APC germline mutation.
2
Testing for MEN1 germline mutation is possible in a research setting.
3
The confirmation of a germline mutation always requires a comparison with healthy tissue.
4
The secondary aim was to see association of germline mutation in histopathologically proven patients.
5
Heterozygous carriers of an ATM germline mutation have an increased susceptibility for breast cancer.
1
We report the first family with a dominantly inherited mutation of the nebulin gene (NEB).
2
Impact: Our finding is the first instance of a plausible candidate high penetrance inherited mutation predisposing to NPC.
3
We describe the genetic findings, phenotypic variability, and recessive inheritance of an often dominantly inherited mutation as notable elements in their case.
4
The secondary mutation may involve a substantial loss of chromosomal material and thus lead to identification of the site of the inherited mutation.
5
We have studied three families with congenital onset, each with a dominantly inherited mutation in a C-terminal exon of the ryanodine receptor 1.
1
The BC1 plants inherited variant extra R chromosomes or fragments from allotetraploid as revealed by GISH and AFLP analysis.
1
Twelve patients carrying BRCA1 germ-line mutation were included in the study.
2
The study includes 778 women carrying a BRCA1 germ-line mutation belonging to 403 families.
3
The present mutation is the 19th nucleotide substitution identified as a germ-line mutation at this locus and the second mutation generating a stop codon.
4
Options available for germ-line mutation carriers, in addition to cancer screening, include prophylactic colectomy as well as prophylactic total abdominal hysterectomy and bilateral salpingo-oophorectomy.
5
The germ-line mutation (G382D) of the human MUTYH gene is therefore likely to be responsible for the occurrence of a mutator phenotype in these patients.
Ús de germline variant en anglès
1
Non-tumoural tissue was sequenced to exclude germline variants in cases where available.
2
Hypothesis: Germline variants of double-strand break repair genes are markers of DTC risk.
3
Other possible AURKA germline variants were screened by sequencing 10 of the familial cases.
4
Background: During the process of tumor profiling, there is the potential to detect germline variants.
5
However, the putative contribution of common NOS3 germline variants to breast cancer risk remained unknown.
6
Objective: To determine the risks of breast cancer associated with germline variants in cancer predisposition genes.
7
Additionally, nine FAP-PTC patients had rare germline variants in genes that were previously associated with thyroid carcinoma.
8
Two ETV6 germline variants gave rise to both AML and ALL, with lineage-specific genetic lesions in the leukemia genomes.
9
However, the relevance of germline variants in other genes from multigene hereditary cancer testing panels is not well defined.
10
We identified two germline variants that are predictive of poor patient outcomes by Cox regression, controlling for eleven covariates.
11
Data were processed through an analytical pipeline to search for rare germline variants in known or novel CRC predisposing genes.
12
Second is a case illustrating the potential for tumor sequencing to suggest germline variants associated with a hereditary cancer syndrome.
13
In this study, we investigated the contribution of rare germline variants to risk of malignant pediatric astrocytoma on a population level.
14
Results: We discovered 72 rare deleterious germline variants in 56 genes shared by all three individuals.
15
Previous studies have mostly focused on the roles of somatic mutations in tumorigenesis, but how germline variants act is largely unknown.
16
Results: In total, 32 germline variants in 23 genes were identified and confirmed by Sanger sequencing.