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Significados de germline mutation em inglês
russo
зародышевая мутация 
Inherited genetic variation.
Sinônimos
Examples for "inherited mutation"
Examples for "inherited mutation"
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
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.
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.
Uso de germline mutation em inglês
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.
6
These data implicate this PARK2 germline mutation as a genetic susceptibility factor for lung cancer.
7
Conclusion: Preoperative knowledge of the germline mutation status affects the surgical approach and extent of adrenalectomy.
8
We sought to determine whether morphological features of breast tumours can predict PALB2 germline mutation status.
9
Various clinical manifestations are presented by description of three patients harbouring a MEN1 gene germline mutation.
10
In one of them the most common biallelic germline mutation in the MYH gene was detected.
11
Molecular studies showed a silent germline mutation in exon 9 of the KIT gene of both tumours.
12
Nevertheless, the risk of primary osteosarcoma developing without prior Rb has not been reported in RB1 germline mutation carriers.
13
The present study describes the first AR germline mutation in an African-American family with a history of familial PCa.
14
Mutations at expanded simple tandem repeat (ESTR) DNA sequences provide a useful tool for screening germline mutation.
15
These tumours are often multicentric or bilateral, and manifest at a younger age than in situations without a VHL germline mutation.
16
Direct sequencing of variants revealed only one germline mutation in MLH1 and a single somatic mutation in MSH2.