Germline variable. Medical search. Frequent questions

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment. (ox.ac.uk)
BACKGROUND: Given the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breast cancer patients. (ox.ac.uk)
Cox regression was used to assess associations of common germline variants with 15-year and 5-year breast cancer-specific survival. (ox.ac.uk)
These genetic changes, which are classified as germline variants, are usually inherited from a parent. (medlineplus.gov)
In people with germline variants, changes in other genes, together with environmental and lifestyle factors, also influence whether a person will develop prostate cancer. (medlineplus.gov)
It is now clear that IG germline variants influence the shape and content of the repertoire via effects on V(D)J recombination and amino acid changes that can directly influence Ab-antigen interactions. (mpg.de)
Studying 17,152 prospectively sequenced patients with cancer, we identified pathogenic germline variants in cancer predisposition genes, and assessed their zygosity and co-occurring somatic alterations in the concomitant tumors. (escholarship.org)
In carriers of pathogenic germline variants in high-penetrance genes (5.1% overall), lineage-dependent patterns of biallelic inactivation led to tumors exhibiting mechanism-specific somatic phenotypes and fewer additional somatic oncogenic drivers. (escholarship.org)
Nevertheless, 27% of cancers in these patients, and most tumors in patients with pathogenic germline variants in lower-penetrance genes, lacked particular hallmarks of tumorigenesis associated with the germline allele. (escholarship.org)
The dependence of tumors on pathogenic germline variants is variable and often dictated by both penetrance and lineage, a finding with implications for clinical management. (escholarship.org)
We sought to determine the prevalence of germline pathogenic variants (gPVs) in unselected patients with endometrial cancer (EC), define biallelic gPVs within tumors , and describe their associations with clinicopathologic features. (bvsalud.org)
Monoallelic germline pathogenic variants in RUNX1 cause autosomal dominant familial platelet disorder with predisposition to myeloid malignancy (FPDMM). (eviq.org.au)
Refer to the evidence section for information about the selection of appropriate samples for testing RUNX1 germline pathogenic variants. (eviq.org.au)
Monoallelic RUNX1 germline pathogenic variants cause autosomal dominant FPDMM which typically presents with mild-to-moderate thrombocytopenia with normal-sized platelets, a functional platelet defect leading to prolonged bleeding and an increased risk of MDS and AL (more commonly AML, followed by T-ALL). (eviq.org.au)
We assessed potential violations of the instrumental variable assumptions, particularly the exclusion restriction (i.e. variants affecting costs through alternative paths). (ox.ac.uk)
[ 4 ] In doing so, they noted that 1 in 5 patients with younger-onset colon cancer have pathogenic germline variants regardless of their family history. (medscape.com)

Finally, based on the outcomes of the analysis, we define a set of testable hypotheses with respect to the placement of particular alleles in complex IGHV locus haplotypes, and discuss the evolutionary relatedness of particular heavy chain variable genes based on sequences of their upstream regions. (lu.se)
the primary pair-rule genes even-skipped, hairy and runt , and the segment polarity genes wingless and engrailed were examined in embryos lacking germline and zygotic dri function. (sdbonline.org)
Recent advances in both germline inference and genomic long-read sequencing of immunoglobulins (IG) have revealed extensive variability of germline variable (V), diversity (D), joining (J), and constant (C) genes between individuals, populations and species. (mpg.de)
Germline V, D, and J genes serve as the foundation for the establishment of a diverse B cell receptor repertoire that is critical to the adaptive immune response. (mpg.de)
Until recently, the naïve repertoire generated from germline genes was seen to simply provide scaffolds on which SHM could operate to generate a successful immune response. (mpg.de)
Germline assessment of at least 76 cancer predisposition genes was performed in patients with EC undergoing clinical tumor -normal Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT) sequencing from January 1, 2015, to June 30, 2021. (bvsalud.org)
The heavy and light immunoglobulin genes are present as gene segments in the germline cells. (uchicago.edu)
The gene segments of the human light and heavy chain germline genes are symbolized V (variable), J (joining) and C (constant). (uchicago.edu)
The heavy chain germline genes have an additional segment D (diversity). (uchicago.edu)
[ 2 ] Therefore, blood was collected for germline testing of the SLCO2A1 and HPGD genes by next-generation sequencing and dosage analysis (Leeds Genetics Laboratory, Leeds, UK). (medscape.com)

Upstream sequences were also identified for a set of previously uncharacterized germline gene alleles. (lu.se)

However, germline SMAD4 mutation, especially a well-described 4-bp deletion, can be used to confirm a clinical diagnosis of JPS. (nih.gov)
Sensitivity and predictive value of criteria for p53 germline mutation screening. (medscape.com)
Trkova M, Prochazkova K, Krutilkova V, Sumerauer D, Sedlacek Z. Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age. (medscape.com)
Women harboring a germline mutation in the BRCA1 gene show a lifetime cumulative risk (LCR) between 44 and 68 % of developing breast cancer until 70 years of age. (biomedcentral.com)
if a germline cell have a mutation that mutation will end up in the cells of the baby and at least one type of the baby's cells will express the mutated gene and the mutation can have an impact on the baby. (physicsforums.com)
Mutations in germline cells may not kill the germline cells immediately, but could have negative effects on an offspring generated from a germline cell carrying a mutation. (physicsforums.com)
Generally, yes, because, as you said, a mutation in the germline would be passed on to every cell in the offspring. (physicsforums.com)
So a mutation that degrades ATP production would harm only a single somatic cell, whereas in germline cells it can cause systemic, chronic, and potentially lethal birth defects in offspring. (physicsforums.com)
[ 12 ] In one Bosnian family, five patients had the same recurrent mutation Y279C in the PTPN11 gene, but had different phenotypes and a variable expression of multiple lentigines. (medscape.com)
MLH1/PMS2-deficient Endometrial Carcinomas in a Universally Screened Population: MLH1 Hypermethylation and Germline Mutation Status. (cdc.gov)
Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome. (lu.se)
[ 2 , 3 , 4 ] A full list of the described mutations is available at the TBX5 Gene Mutation Database , an online locus-specific database that contains germline and somatic mutations of the TBX5 gene. (medscape.com)

Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. (medscape.com)
The aim of this study was to describe clinically relevant germline mutations in a cohort of young women with breast cancer. (preprints.org)

GWAS identified common germline. (studylib.net)

Individuals with a monoallelic RUNX1 germline pathogenic variant should be informed of the risk of platelet dysfunction, particularly during pregnancy and major surgery. (eviq.org.au)
When it comes to colorectal cancer before age 50, the guidelines suggest that all patients should be referred for a germline pathogenic variant evaluation. (medscape.com)

In 2006, Tartaglia et al reported that germline mutations in the PTPN11 gene cause LEOPARD and Noonan syndromes, whereas somatic mutations in the same gene contribute to leukemogenesis. (medscape.com)

We have previously reported that BRCA2 shows differential allelic expression and we hypothesize that the known variable penetrance of BRCA2 mutations might be associated with this mechanism. (ku.edu)

Abstract Introduction Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type allele. (ku.edu)
LEOPARD syndrome is a complex dysmorphogenetic disorder of variable penetrance and expressivity. (medscape.com)
Holt-Oram syndrome (HOS) (OMIM 142900) is a heart-upper limb malformation complex with an autosomal dominant inheritance and near-complete penetrance but variable expression. (medscape.com)

Germline diversity within the mouse Igk-V9 gene family. (jax.org)
Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. (genetex.com)
It will explore the macroevolution of the IG loci, by gene duplication and gene loss, in different lineages, whether positions critical for antigen-binding show evidence of balancing (maintains diversity) or directional (one allele is favoured) selection, and whether SHM complements or replicates germline diversity. (mpg.de)
this may be a variable to consider in the analysis of tumor diversity, and of the family history observed in families with hereditary breast cancer (even in those harboring the same type of genetic alteration). (biomedcentral.com)

Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry. (medscape.com)
Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel. (cdc.gov)

The presence of FeLV genetic sequences in the germline results in recombination between exogenous FeLV and FeLV-A during domestic cat infections and in emergence of more deleterious subgroups (i.e. (cdc.gov)
Mendelian Randomization, the use of random perturbations in germline genetic variation as instrumental variables, can avoid these limitations. (ox.ac.uk)

Recovery is also observed in most cases when double-stranded RNA is used to silence the same coding sequence in different regulatory contexts that drive germline expression. (nature.com)

The germline sequences are stored as ASN-aligned so that the resulting region alignments are also ASN-aligned. (labkey.org)
If, after the variable and constant regions have been detected, there remains an N-terminal portion of the query sequence that is unmatched, the N-terminal portion is aligned to germline leaders from the specified germline gene sets and also to user-specified SeqPart sequences which have been provided to the detector. (labkey.org)
It is the overall sequence of the variable region that is considered and then judged to more closely resemble human sequences (i.e., fully human and humanized mAbs) or non-human sequences (i.e., chimeric mAbs). (jcadonline.com)

The LCR for breast cancer in women harboring germline mutations in this gene is similar to the risk of carriers of germline mutations in BRCA1 (44 to 68 % until 70 years of age), whereas the risk of ovarian cancer ranges from 11 to 40 % [ 5 - 8 ]. (biomedcentral.com)

The first step in the classification process is the detection of antibody variable and constant regions specified in the detection settings. (labkey.org)
1. Identify antibody variable and constant regions (domains) a. (labkey.org)
Furthermore, an explanation for the observed restricted germline gene usage in certain antibody responses against protein epitopes is provided. (lu.se)

The variable disruption to abdominal segment formation correlates with a variable reduction in expression of engrailed and wingless ( wg ) in stripes 9-14. (sdbonline.org)
For heavy variable regions, the germine D-segments are aligned to the residues between the V-segment match and the J-segment match. (labkey.org)

FeLV prevalence in domestic cats is variable (prevalence range 3%-18%) ( 13 - 16 ). (cdc.gov)

Symbols for variable (V) immunoglobulin gene segments start with IGHV and include two or three numbers separated by dashes. (wikipedia.org)
Each local alignment is then refined by a more careful alignment comparison to the germline gene segments from species specified in the detection settings. (labkey.org)

This region represents the germline organization of the T cell receptor alpha and delta loci. (genetex.com)

Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. (medscape.com)

The objective of this pilot study is to evaluate, for the first time, the contribution of germline mutations in BRCA1/2 to breast cancer among Jordanian patients. (biomedcentral.com)

Update: variable implementation of the 2018 UKCGG/UKGTN guidelines for breast cancer gene panel tests offered by UK genetics services. (cdc.gov)

Comprehensive analysis of germline drivers in endometrial cancer. (bvsalud.org)

Ogur et al reported variable clinical expression of HOS in three generations. (medscape.com)

We report that the variable domains of recombinant HIV-1 Env immunogens activate a large number of B cell clones that give rise to many non-neutralizing antibodies, and that removing the variable domains from the immunogen reduces the number of activated B cell lineages and leads to the development of autologous neutralizing antibodies, a step towards bNAb-production. (plos.org)

If germline data for the query's species of origin does not exist or is incomplete in the resource files contained in CoreAb, other, more complete, germline gene data sets from other species can be used to identify homologous regions. (labkey.org)

The default regions for detection are kappa variable, lambda variable, heavy variable, light constant, heavy constant Ig (CH1), heavy constant Fc-N (CH2), and heavy constant Fc-C (CH3). (labkey.org)

Micro-Array measurement found similar SV's for:  Duplications  Deletions  Inversions Then, common SV's are now linked to: Autism Schizophrenia Nesthor Perez 2.1 Germline Structural Variation Human Genetics Study purpose: Identify a unique DNA sequencing. (studylib.net)

The context-specific role of germline pathogenicity in tumorigenesis. (escholarship.org)

Following recognition of TLR ligands, TLRs elicit innate immunity by activating multiple intracellular signaling cascades including variable adaptor proteins and transcriptional factors. (frontiersin.org)

Germline mutations are more harmful than mutations in somatic cells? (physicsforums.com)
And what about mutations in germline cells? (physicsforums.com)
Suggested for: Germline mutations are more harmful than mutations in somatic cells? (physicsforums.com)

Studying the males allows us to reduce the variables to a single nutrient and the sperm. (usu.edu)

This region represents the germline organization of the heavy chain locus. (wikipedia.org)
To generate an alignment for variable regions, the PSSM-matched sub-sequence is aligned to both germline V-segments and J-segments and these results are combined to synthesize an alignment for the entire variable region. (labkey.org)
As a final step in the variable region alignment refinement process, CDR regions are center-gapped to match the AHo/ASN numbering system. (labkey.org)
If variable region, refine the alignment and adjust CDR gapping iv. (labkey.org)
The default threshold is 80% identity for constant regions and 60% identity for variable region frameworks. (labkey.org)

P= 0.022) were the only epidemiological variables associated with mutational status. (preprints.org)
BACKGROUND Accurate measurement of the effects of disease status on healthcare cost is important in the pragmatic evaluation of interventions but is complicated by endogeneity biases due to omitted variables and reverse causality. (ox.ac.uk)

In addition, SHM-driven adaptation is now understood to be influenced and in some cases constrained by the germline gene set found within an individual. (mpg.de)

Anatomy17

Organisms11

Diseases31

Chemicals and Drugs53

Analytical, Diagnostic and Therapeutic Techniques and Equipment41

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Phenomena and Processes102

Disciplines and Occupations1

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