Variation germ line mutation. Medical search. Frequent questions

Whole genome sequencing makes it possible to comprehensively discover the mutations, and the mutated genes, that are responsible for tumour formation. (nature.com)
Its goal is to generate an informed and current understanding of the impact of genetic variation on cancer risk across the iconic cancer predisposition genes, BRCA1 and BRCA2 . (plos.org)
Commonly these markers are individual genetic changes, such as driver mutations affecting oncogenes or tumor suppressor genes, or copy-number alterations thereof. (nature.com)
However, while DNA repair is often deficient in tumors, many DNA repair genes such as MLH1 , MGMT , BRCA1, or ATM do not commonly bear somatic mutations. (nature.com)
Eighteen percent of patients carried germline variations in one of 156 known, cancer-predisposition genes. (stjude.org)
About three-quarters of individuals with CHIP had mutations in just three genes: DNMT3A, TET2, and ASXL1. (genomeweb.com)
Mutation rates were significantly lower in genomic regions marked by H3K4me1, a histone modification found in the gene bodies of actively expressed and evolutionarily conserved genes in plants. (biorxiv.org)
We observed conservation in rice for PDS5C, a cohesion cofactor involved in the homology-directed repair pathway that in A. thaliana binds to H3K4me1 via its Tudor domain and localizes to regions exhibiting reduced mutation rates: coding regions, essential genes, constitutively expressed genes, and genes under stronger purifying selection, mirroring mutation biases observed in rice as well. (biorxiv.org)
Cancers occur when a buildup of mutations in critical genes-those that control cell growth and division or repair damaged DNA-allow cells to grow and divide uncontrollably to form a tumor. (medlineplus.gov)
Somatic mutations in many other genes have also been found in ovarian cancer cells. (medlineplus.gov)
Therefore we investigated if mutations in other genes are involved in cancer development and whether TNBC is an additional indicator of mutational status besides family history and age of onset. (biomedcentral.com)
We performed a germline panel-based screening of 10 high and low-moderate penetrance breast cancer susceptibility genes ( BRCA1 , BRCA2 , ATM , CDH1 , CHEK2 , NBN , PALB2 , RAD51C , RAD51D and TP53) in 229 consecutive individuals affected with TNBC unselected for age, family history or bilateral disease. (biomedcentral.com)
While no mutations were found in CDH1 and TP53 , 10 mutations were detected in one of the six other predisposition genes. (biomedcentral.com)
In summary, our data confirm and expand previous studies of a high frequency of germline mutations in genes associated with ineffective repair of DNA damage in women with TNBCs. (biomedcentral.com)
Correction: Differential analysis between somatic mutation and germline variation profiles reveals cancer-related genes [Genome Med. (princeton.edu)

They relied on a pre-selected list of leukemogenic driver mutations to identify these CHIP carriers. (genomeweb.com)
Using a mass spectrometry-based immunopeptidomics approach, we characterized the antigenic landscape of patient LSCs and identified AML- and AML/LSC-associated HLA-presented antigens absent from normal tissues comprising nonmutated peptides, cryptic neoepitopes, and neoepitopes of common AML driver mutations of NPM1 and IDH2. (bvsalud.org)
We analyzed previously published AML relapse cohorts and found that 40% of relapses occur without changes in driver mutations, suggesting that non-genetic mechanisms drive relapse in a large proportion of cases. (bvsalud.org)

Ongoing work includes direct contact with national centers with access to BRCA1 and BRCA2 diagnostic data to encourage data sharing, development of methods suitable for extraction of genetic variation at the level of individual laboratory reports, and engagement with participant communities to enable a more comprehensive understanding of the clinical significance of genetic variation in BRCA1 and BRCA2 . (plos.org)
Overall, we observe that germline genetic variation shapes hematopoietic stem cell function, leading to CHIP through mechanisms that are specific to clonal hematopoiesis as well as shared mechanisms that lead to somatic mutations across tissues," co-senior authors Sekar Kathiresan and Pradeep Natarajan, both of the Broad, and their colleagues wrote in their paper. (genomeweb.com)
Their goal was to characterise and study heritable, or germline, genetic variation in genomes of cancer patients. (embl.org)
Mutations are the ultimate source of genetic variation. (biorxiv.org)
Individual Genetic Variation Might Predict Acute Skin Reactions in Women Undergoing Adjuvant Breast Cancer Radiotherapy. (cancerindex.org)
The aim of this study was to explore whether genetic variation might be linked to acute radiation skin reactions (ARSR). (cancerindex.org)
Mutation within the germline is the final word supply of genetic variation, however little is thought concerning the affect of germline chromatin construction on mutational processes. (aabioetica.org)
For example, a population with many different alleles at a locus may be said to have a lot of genetic variation at that locus. (berkeley.edu)
Genetic variation is essential for natural selection to operate since natural selection can only increase or decrease frequency of alleles already in the population. (berkeley.edu)
In general, genetic drift has the effect of decreasing genetic variation within a population. (berkeley.edu)
In 1995, faced with the compounding ef- netic analysis of panther FeLV, designated FeLV-Pco, de- fects of reduced genetic variation, probable depression of termined that the outbreak likely came from 1 cross-spe- numbers from inbreeding, and evidence of compromised cies transmission from a domestic cat. (cdc.gov)
The FeLV-Pco virus health, wildlife managers released 8 female Texas pumas was closely related to the domestic cat exogenous FeLV-A into southern Florida to increase genetic variation and ame- subgroup in lacking recombinant segments derived from liorate the physiologic effects of inbreeding. (cdc.gov)

Germline mutations of a second cancer susceptibility gene BRCA1 (ref. 5), are associated with a strong predisposition to ovarian cancer as well as female breast cancer. (nih.gov)
Recent studies have suggested that the phenotype in BRCA1 families with respect to the ratio of breast to ovarian cancer varies with the location of the BRCA1 mutation. (nih.gov)
The BRCA Challenge has brought together the existing international Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium expert panel, along with expert clinicians, diagnosticians, researchers, and database providers, all with a common goal of advancing our understanding of BRCA1 and BRCA2 variation. (plos.org)
So far, TNBC has been mainly associated with mutations in BRCA1. (biomedcentral.com)
Deleterious BRCA1 mutations occurred in 14.8% of TNBC patients. (biomedcentral.com)
Furthermore, patients with non- BRCA1/2 mutations were not significantly younger than mutation negative women ( p = 0.3341). (biomedcentral.com)
Most importantly, among the 57 mutation carriers, ten (17.5%) would be missed using current clinical testing criteria including five (8%) with BRCA1/2 mutations. (biomedcentral.com)
According to current guidelines, genetic testing in Germany is recommended in BC patients, who have at least a 10% prior probability of carrying a BRCA1/2 mutation based on clinical criteria as age of manifestation, family history and contralateral disease [ 5 ] and, only since end of 2016, considering receptor triple negativity before age 50. (biomedcentral.com)
In the years 2007 and 2008, when gene testing was restricted to BRCA1 and BRCA2 several studies have demonstrated that BRCA1 -mutation carriers are more likely to be diagnosed with TNBC than non-carriers [ 6 ]. (biomedcentral.com)

These mutations all lead to premature truncation of BRCA2 as a result of frameshift deletions/insertions or nonsense mutations. (nih.gov)
These mutations commonly include single base pair substitutions, deletions, and insertions. (wikipedia.org)
Other types of mutation signatures based on small insertions and deletions (indels) 9 and on structural variants 22 are also starting to be introduced. (nature.com)
Moreover, for research purposes we have adopted targeted DNA and RNA sequencing, as well as Whole Exome Sequencing and other innovative genomic platforms to identify somatic or germline mutations (SNV), copy number variations (CNV), small insertions/deletions, and gene fusions. (ifo.it)
Approximately 30% of new STR mutations occur within Alu elements, which compose only 11% of the genome, but only 10% are found in LINE-1 insertions, which compose 17% of the genome. (biomedcentral.com)

A mutation that arises later in zygote development will be present in a small subset of either somatic or germline cells, but not both. (wikipedia.org)

The types of mutations that occur also tend to vary between the sexes. (wikipedia.org)
Studies examining the relationship between mutation type, X-inactivation status, and severity of clinical presentation found significant differences in clinical presentation between different types of mutations. (neurology.org)

In mice and humans the spontaneous mutation rate in the male germ line is significantly lower than in somatic cells. (wikipedia.org)
G variants within regions affected by excess maternal mutations indicate that the underlying mutational process has persisted in humans for thousands of years. (ox.ac.uk)
G variation in humans is largely shared by chimpanzees, less by gorillas, and is almost absent from orangutans. (ox.ac.uk)
This demonstrates that sequence diversity in humans results from evolving interactions between age, sex, mutation type, and genomic location. (ox.ac.uk)

These cancers are described as hereditary and are associated with inherited gene mutations. (medlineplus.gov)
This patient series confirms the high frequency of MeCP2 gene mutations causative of RTT in females and provides data concerning the molecular basis for clinical variability (mutation type and position and X-inactivation patterns). (neurology.org)

Causative mutations in the MeCP2 gene were identified in 63% of patients, representing a total of 30 different mutations. (neurology.org)
Initially, six different mutations in the MeCP2 gene were described in both sporadic and familial cases of RTT. (neurology.org)
Eleven different mutations in the 22 families were detected by either restriction digest or allele-specific oligonucleotide hybridization of ARMS PCR products. (ox.ac.uk)
We molecularly proved the origin of these different mutations to be paternal for all informative cases analyzed (P=2. (ox.ac.uk)

The authors found 17 novel mutations, including a complex gene rearrangement found in one individual involving two deletions and a duplication. (neurology.org)

To determine whether genetic variations of IGF modify pancreatic cancer risk, we compared the frequency of six single nucleotide polymorphisms of IGF1 and IGF2 in a large-scale case control study. (aacrjournals.org)
We find 108,778 de novo mutations, both single nucleotide polymorphisms and indels, and determine the parent of origin of 42,961. (ox.ac.uk)
We estimate the average number of de novo genome-wide STR mutations per individual to be approximately 85, which is similar to the average number of observed de novo single nucleotide variants. (biomedcentral.com)

Another review identified missense mutations in 30 patients and mutations that lead to premature chain termination (truncation mutations) in 66 patients. (medscape.com)

Germline mutations can be caused by a variety of endogenous (internal) and exogenous (external) factors, and can occur throughout zygote development. (wikipedia.org)
Germline mutations can occur before fertilization and during various stages of zygote development. (wikipedia.org)
This damage is rarely repaired imperfectly, but due to the high rate of germ cell division, can occur frequently. (wikipedia.org)
A germline mutation can also occur due to exogenous factors. (wikipedia.org)
By contrast, somatic mutations occur in individual body cells during an organism's lifetime and only affect the tissue that is derived from that cell. (embl.org)
MBD4 influences a mutational process that occurs naturally during ageing and is described as clock-like, because of the rhythm with which somatic mutations occur during our lifetime. (embl.org)
Somatic mutations in the TP53 gene occur in almost half of all ovarian cancers. (medlineplus.gov)

By sequencing pairs of normal and tumour genomes from large patient cohorts, projects such as the ICGC (International Cancer Genome Consortium) and TCGA (The Cancer Genome Atlas) aim to create definitive driver mutation catalogues for all common cancers 1 , 2 . (nature.com)
The TGFBR1*6A allele was not significantly associated with breast cancer patients and only one somatic mutation was found in 71 breast cancers. (aacrjournals.org)
Screening applications that embody ladies of their 40s are related to considerably greater breast most cancers (BC) 10-year web survival (NS) for girls aged 40 to 49 years, based on a examine revealed on-line Aug. 4 within the Journal of Medical Oncology . (worldakkam.com)

The identification is vital and in the frame of this package based on the locations/ loci of somatic and germline mutations/ variations. (bioconductor.org)
As the researchers reported on Wednesday in Nature , they identified three germline genetic loci associated with CHIP, including one in the TET2 gene that appears to be specific to individuals of African ancestry. (genomeweb.com)
The analysis of a sequencing dataset (TOPMed) reveals nine processes that explain the variation in mutation properties between loci. (wustl.edu)
Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome. (biomedcentral.com)
Improving our understanding of these mutations would increase our knowledge of the mutational dynamics of the genome and may uncover additional loci that contribute to disease. (biomedcentral.com)
To estimate the genome-wide pattern of mutations at STR loci, we analyze blood-derived whole-genome sequencing data for 544 individuals from 29 three-generation CEPH pedigrees. (biomedcentral.com)
Analyzing approximately 1.6 million STR loci, we estimate the empirical de novo STR mutation rate to be 5.24 × 10 −5 mutations per locus per generation. (biomedcentral.com)
It is possible that each of these mechanisms contributes to the high mutation rate of STRs, but strand slippage is the mechanism proposed for generating most observed mutations in STR loci [ 19 ]. (biomedcentral.com)

Through the comprehensive genomic testing in this study, we were able to clearly identify tumor variations that could be treated with targeted agents, opening doors for how oncologists manage their patients," said co-corresponding author Kim Nichols, M.D. , St. Jude Cancer Predisposition Division director. (stjude.org)
The number of clustered mutations increases faster with the mother's age than with the father's, and the genomic span of maternal de novo mutation clusters is greater than that of paternal ones. (ox.ac.uk)

Breast Cancer Susceptibility Gene 1 (BRCA 1) and Breast Cancer Susceptibility Gene 2 (BRCA 2) germline mutations confer an estimated 20 to 40 times increased risk of OC when compared to the general population. (mdpi.com)

Structural variation (SV) influences genome organization and contributes to human disease. (biomedcentral.com)
Cancer is a genetic disease with incidence driven by inherited (germline) variation in the person and evolution driven by somatic events in the tumor. (dana-farber.org)
As people age, they can acquire somatic mutations that lead to clonal expansion within their population of regenerating hematopoietic stem cells, which in turn can lead to hematological cancer and coronary heart disease. (genomeweb.com)
Cancer is a disease of the somatic genome, caused by mutations that arise during our lifetime," says EMBL group leader Jan Korbel. (embl.org)
Neither age of onset, contralateral disease nor family history were able to discern all mutation positive individuals. (biomedcentral.com)

8 Subsequent studies have identified MeCP2 mutations in approximately 65% to 80% of patients with classic RTT, although familial cases and clinically atypical cases show a lower incidence of MeCP2 mutations. (neurology.org)
Based on the TBX5, GATA4, and HEY2, often simultaneously incidence of somatic mutations described in the within the same patient.9-13 The observation of two previously published reports, our study was adequately or more somatic sequence variants in the same powered to replicate the previous studies. (cdc.gov)

In 57 women (24.9%) we detected a pathogenic mutation, with a higher frequency (29.7%) in the group manifesting cancer before 60 years. (biomedcentral.com)

To study mechanisms determining intragenomic mutation rate variability, we reanalyzed 43,483 de novo germline single base substitutions in 1,504 fast neutron irradiated mutation accumulation lines in Kitaake rice. (biorxiv.org)
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. (ox.ac.uk)
To understand how the age and sex of transmitting parents affect de novo mutations, here we sequence 1,548 Icelanders, their parents, and, for a subset of 225, at least one child, to 35× genome-wide coverage. (ox.ac.uk)
The number of de novo mutations from mothers increases by 0.37 per year of age (95% CI 0.32-0.43), a quarter of the 1.51 per year from fathers (95% CI 1.45-1.57). (ox.ac.uk)
G de novo mutations per year, respectively. (ox.ac.uk)
We use HipSTR to identify de novo STR mutations in the 2nd generation of these pedigrees and require transmission to the third generation for validation. (biomedcentral.com)

Germline mutations of BRCA2 are predicted to account for approximately 35% of families with multiple case, early onset female breast cancer, and they are also associated with an increased risk of male breast cancer, ovarian cancer, prostate cancer and pancreatic cancer. (nih.gov)

In general, do germline variants induce specific somatic changes or modulate the impact of somatic variation on the tumor? (dana-farber.org)
NEW YORK - A handful of germline gene variants contribute to the risk of developing aging-related clonal hematopoiesis, a new study has found. (genomeweb.com)
Within a subset of this cohort, the researchers conducted a single-variant genome-wide association analysis to uncover germline variants linked to CHIP. (genomeweb.com)
Germline variants are present in every single cell of our body. (embl.org)
Finding germline variants that influence cancer development is key for future medical applications. (embl.org)
The SARS-CoV-2 variants (including alpha, beta, delta, and omicron) that have driven the COVID-19 pandemic all stem from mutations in the virus's genome which changed the virus's structure, making the virus more difficult for our immune systems to recognize and defend against. (learn-biology.com)
Two synonymous germline in a majority of these patients.10 13 The same sequence variants were identified in two separate investigators also found somatic sequence variants patients. (cdc.gov)
We are analysing alternative splicing and its association with germline variants and somatic mutations RNA and DNA sequencing data for thousands of women with sporadic or familial breast cancer. (lu.se)

Denys-Drash syndrome (DDS) is a rare disorder consisting of the triad of congenital nephropathy, Wilms tumor , and intersex disorders resulting from mutations in the Wilms tumor suppressor ( WT1 ) gene. (medscape.com)
Overall, 86% of patients had at least one clinically significant variation in tumor or germline DNA. (stjude.org)
Most of these mutations change single protein building blocks (amino acids) in the p53 protein, which reduces or eliminates the protein's tumor suppressor function. (medlineplus.gov)
Patients with truncation mutations had high frequency of bilateral Wilms tumor compared with patients with missense mutations (52% vs. 17%, respectively), with a higher percentage of bilateral tumors in patients with truncations that occurred in the 5' half of the WT1 gene. (medscape.com)

Biological mechanisms underlying human germline mutations remain largely unknown. (wustl.edu)

Analysis of these large elucidatinG the etioloGical role sites, and also patterns of genetic genome-wide studies also includes a of obeSity and related riSk factorS mutations that are observed in tumours. (who.int)

Analysis of the mutation distribution along the length of the gene indicates a significant genotype-phenotype correlation. (nih.gov)
The input format is vcf/ vcf.gz and the files have to contain a single cancer cell line sample (i.e. a single member/genotype/gt column in the vcf file). (bioconductor.org)

This, the researchers wrote, shows that "at this locus, both germline noncoding and somatic coding variation converge to affect TET2 and influence the development of CHIP. (genomeweb.com)

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. (ox.ac.uk)
01). Our data on advanced paternal age corroborates and extends previous clinical evidence based on statistical analyses as well as additional reports of advanced paternal age associated with paternal origin of three sporadic mutations causing Apert syndrome (FGFR2) and achondroplasia (FGFR3). (ox.ac.uk)

We detect mutational signatures in cancer cell line exomes (where matched healthy tissues are not available) by adjusting for the confounding germline mutation spectra across ancestries. (nature.com)
We statistically decompose variation in the rate and spectra of mutations along the genome using volume-regularized nonnegative matrix factorization. (wustl.edu)

Until recently, real-time quantitative PCR (qPCR) assays and microarray hybridization have been the main methods used to determine copy number variation (CNV) in the genome. (bio-rad.com)
What Is Copy Number Variation? (bio-rad.com)
Copy number variation is defined as the presence of variable numbers of copies of a particular DNA segment relative to a reference genome. (bio-rad.com)
DNA methylation and copy number variation profiling of T-cell lymphoblastic leukemia and lymphoma. (cancercentrum.se)

The data set is based on shared information from existing clinical databases-Breast Cancer Information Core (BIC), ClinVar, and the Leiden Open Variation Database (LOVD)-as well as population databases, all linked to a single point of access. (plos.org)
However, the relationships between these classes of variation are not well understood and require understanding that spans statistical genetics, epidemiology, and clinical oncology. (dana-farber.org)
This provides computational power and seamless knowledgebase searching abilities, including the possibility to match actionable mutations with ongoing clinical trials. (ifo.it)
Within this cohort we compared the number of mutation carriers fulfilling clinical selection criteria with the total number of carriers identified. (biomedcentral.com)
Mutations in the amino-terminus were significantly correlated with a more severe clinical presentation compared with mutations closer to the carboxyl-terminus of MeCP2. (neurology.org)
More than 96% of individuals with a clinical diagnosis of Denys-Drash syndrome have been found to carry a mutation in the WT1 gene. (medscape.com)

The absence of whole-genome maps of somatic mutations has meant that searches for new cancer-related lncRNAs have relied on conventional transcriptomic approaches that reveal changes in their expression levels that accompany cancer. (nature.com)
Whole genome and whole exome sequencing of germline DNA was offered to all 309 patients who enrolled in the study. (stjude.org)

The most common form of ovarian cancer begins in epithelial cells, which are the cells that line the surfaces and cavities of the body. (medlineplus.gov)
Cancer can also begin in epithelial cells that form the lining of the abdomen (the peritoneum). (medlineplus.gov)
In about 10 percent of cases, ovarian cancer develops not in epithelial cells but in germ cells, which are precursors to egg cells, or in hormone-producing ovarian cells called granulosa cells. (medlineplus.gov)

A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ova). (wikipedia.org)
Mutations in these cells are the only mutations that can be passed on to offspring, when either a mutated sperm or oocyte come together to form a zygote. (wikipedia.org)
A mutation that arises soon after fertilization, but before germline and somatic cells are determined, then the mutation will be present in a large proportion of the individual's cell with no bias towards germline or somatic cells, this is also called a gonosomal mutation. (wikipedia.org)
Similar to somatic mutations, germline mutations can be caused by exposure to harmful substances, which damage the DNA of germ cells. (wikipedia.org)
the major difference between germline mutations and somatic mutations is that germ cells are not exposed to UV radiation, and thus not often directly mutated in this manner. (wikipedia.org)
By simultaneously modeling signal variation across cells and conditions in both omics data types, MAGICAL achieved high accuracy on circuit inference. (simonsfoundation.org)
These changes, classified as germline mutations, are present in all the body's cells. (medlineplus.gov)
Mutation that occurs in reproductive cells and ends up being carried by gametes (e.g., eggs and sperm). (berkeley.edu)
Although good quality ES cells can provide chimeras, we do not guarantee germline transmission. (lu.se)

Scope includes mutations and abnormal protein expression. (cancerindex.org)
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 ( MeCP2 ) gene. (neurology.org)
Such mutations result in a WT1 protein that lacks a functional nuclear localization signal. (medscape.com)
Modern genomics methods produce vast amounts of genetic data, but we have limited ability to interpret the effects of sequence variation on gene expression, protein function and the individual's phenotype. (lu.se)

To determine whether germline mutations in BRCA2 are associated with a similar variation in phenotypic risk, we have analysed the distribution of mutations in 25 families with multiple cases of breast and/or ovarian cancer ascertained in the United Kingdom and Eire. (nih.gov)
Truncating mutations in families with the highest risk of ovarian cancer relative to breast cancer are clustered in a region of approximately 3.3 kb in exon 11 (P = 0.0004). (nih.gov)

Researchers estimated that 1 in 5 patients had clinically relevant mutations that would have gone undetected using standard sequencing methods. (stjude.org)

Published data on mutations in 45 other BRCA2-linked families provide support for this correlation. (nih.gov)
Deleterious BRCA2 mutations occurred in 5.7% of patients, all but one (c.1813dupA) being unique. (biomedcentral.com)

Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. (ox.ac.uk)

If the mutation arises in either the sperm or the oocyte before development, then the mutation will be present in every cell in the individual's body. (wikipedia.org)

For instance, JAK2 CHIP mutation carriers were generally younger than other carriers, and TET2 CHIP carriers tended to have increased IL-1 β levels, while JAK2 and SF3B1 carriers had increased circulating IL-18. (genomeweb.com)
Remarkably, neither of the ATM , RAD51D , CHEK2 and PALB2 mutation carriers had a family history. (biomedcentral.com)
Skewed X-inactivation patterns were found in two asymptomatic carriers of MeCP2 mutations and six girls diagnosed with either atypical or classical RTT. (neurology.org)

Denys-Drash syndrome is the result of mutations in the WT1 gene on chromosome band 11p13. (medscape.com)
A mechanism of mutation associated with recombination in which a cell's DNA repair systems "convert" the sequence on a section of one chromosome to a sequence that is found on the homologous chromosome. (berkeley.edu)
HPS-2 is caused by a mutation in the gene encoding the beta-3A subunit of the heterotetrameric AP3 complex ( ADTB3A ), which resides on chromosome 5. (medscape.com)

Despite these discoveries, the patterns, rates, and properties of cxSVs have primarily been the focus of cancer genomics and such rearrangements remain largely underappreciated in the human germline. (biomedcentral.com)
2) Understanding the relationship between heritable/germline and somatic variation in cancer. (dana-farber.org)
We seek to learn the interactions between germline and somatic events as well as their impact on cancer progression and response to treatment. (dana-farber.org)
We hypothesize that this germline variant may be involved in development and progression of breast cancer. (aacrjournals.org)
These data suggest that the germline Int7G24A variant may represent a risk factor for invasive breast cancer and a marker for breast cancer progression. (aacrjournals.org)
Uniquorn' enables users to identify cancer cell lines. (bioconductor.org)
Cancer cell line misidentification and cross-contamination reprents a significant challenge for cancer researchers. (bioconductor.org)
But in a certain number of patients, at least 5 to 10%, the reason for cancer is due to inherited mutations. (embl.org)
The group identified germline mutations in the gene MBD4 as a driver for an overabundance of somatic mutations in cancer genomes. (embl.org)
On the negative side, mutations cause damage that can lead to genetic defects and cancer. (learn-biology.com)

Results: One non-synonymous germline sequence variant iants as well as multiple haplotypes were observed was identified in one patient. (cdc.gov)

Another germline deletion ( TGFBR1*6A ) and somatic mutations in the TGFBR1 were also analyzed by PCR and single-strand conformational polymorphism. (aacrjournals.org)
Another advantage of ddPCR technology for quantifying both CNVs and point mutations is that single-color detection methods can be used. (bio-rad.com)
Mutation in a single allele of the WT1 gene is sufficient to produce nephropathy and intersex disorder. (medscape.com)
variation in a single at the historical boundaries of the Occupational that did not cause an adverse effect. (cdc.gov)

Phasing these mutations to the parent of origin shows that parental transmission biases vary among families. (biomedcentral.com)
To determine the parental origin of these FGFR2 mutations, the amplification refractory mutation system (ARMS) was used. (ox.ac.uk)

We also identify multiple cases of catastrophic chromosomal rearrangements known as chromoanagenesis, including somatic chromoanasynthesis, and extreme balanced germline chromothripsis events involving up to 65 breakpoints and 60.6 Mb across four chromosomes, further defining rare categories of extreme cxSV. (biomedcentral.com)
Can molecular data help us efficiently identify the specific causal mutations? (dana-farber.org)
Can we identify germline modifiers of somatic events? (dana-farber.org)
Our methodology can be used to identify genetic factors that increase the pace at which somatic mutations are acquired," says Sebastian Waszak. (embl.org)

Furthermore, although the spontaneous mutation rate in the male germ line increases with age, the rate of increase is lower than in somatic tissues. (wikipedia.org)

No evidence of patients and even within the same gene is expected somatic mutations was found in this study. (cdc.gov)

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