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Significados de germ-line mutation em inglês
russo
зародышевая мутация 
Inherited genetic variation.
Sinônimos
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
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.
Uso de germ-line mutation em inglês
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.
6
DNA from probands of linked families was examined for germ-line mutations in PODXL.
7
PALB2 germ-line mutations contribute to a small fraction of cancer cases in Russia.
8
A 7-fold association between germ-line mutations and family history of breast-ovarian cancer emerged.
9
This disease is caused by germ-line mutations in the base excision repair MYH gene.
10
We demonstrate the first three germ-line mutations in ATM identified by screening of breast cancer patients.
11
A BRCA2 allele transcript imbalance was found in one of four heterozygotes tested, all of them negative for germ-line mutations.
12
Germ-line mutations in PTEN have also been described in Cowden disease and in a small number of patients with juvenile polyposis syndrome.
13
Germ-line mutations in BRCA1 and BRCA2 genes are associated with 5-10% of breast cancer incidence.
14
We wanted to examine which microsatellite markers currently used to detect MSI best predict early-onset colorectal cancer caused by germ-line mutations in MMR genes.
15
Germ-line mutations in the KIT receptor tyrosine kinase gene have been described in families with a propensity to develop gastrointestinal stromal tumor (GIST).
16
Carriers of germ-line mutations in the breast cancer susceptibility genes BRCA1 and BRCA2 are particularly prone to develop breast cancer.