Pathogenic gene mutations. Medical search. Frequent questions

I would like to create a list (probably .vcf format would be good) of all known pathogenic missense mutations in a human gene of interest and then add other variants that could lead to the same pathogenic amino acid substitutions. (stackexchange.com)
Two novel missense mutations that have been found are R164C and L283P and the result is a decrease in co-clustering of AChR with raspyn. (wikipedia.org)
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. (medlineplus.gov)
T). Of the five mutations, three were truncated mutations, and the other two were missense mutations. (molvis.org)
Nonsense or missense mutations in the MEFV (Mediterranean fever) gene appear to cause the disease in many cases. (medscape.com)

If I have data from a full genome sequence, how can I search for a known pathogenic variant of a known gene? (stackexchange.com)
When determining if a gene variant is associated with a genetic disorder, the variant is evaluated using scientific research to date, such as information on how the variant affects the function or production of the protein that is made from the gene and previous variant classification data. (medlineplus.gov)
There is ample scientific research to support an association between the disease and the gene variant. (medlineplus.gov)
A variant that is pathogenic for one disease, is not necessarily pathogenic for a different disease. (medlineplus.gov)
For women older than 65, better estimates of the remaining lifetime risk of breast cancer linked with having a pathogenic variant in a predisposition gene are needed. (cancer.org)
A pathogenic variant was identified (c.6468_6469delTC in a BRCA2 gene mutation). (frontiersin.org)
Germline BRCA mutation analysis of the two daughters detected the same pathogenic variant in one of them. (frontiersin.org)
Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A). (nih.gov)
DNA testing did not identify a pathogenic variant (mutation) using a multi-gene neurology panel. (jax.org)
However, a variant of uncertain clinical significance (VUS) was identified in a gene associated with a condition that includes autism among the observed clinical features. (jax.org)
VUS, where the effect of the variant on gene function is unknown. (jax.org)
When looking solely at VUS that are classified as "variant, likely pathogenic," the proportion of splice site variants is much greater, at 55% (Karam 2019). (jax.org)
A pathogenic variant (mutation) is a change in a gene that causes it to stop working properly. (cooperhealth.org)
The presence of a pathogenic somatic TP53 mutation (at a variant allele fraction of at least 10%, with or without loss of the wild-type TP53 allele) defines the entity AML with mutated TP53 . (cancercentrum.se)

WIKIMEDIA, NHGRI Sequencing the whole genomes and exomes of more than 3,000 childhood cancer survivors, Zhaoming Wang of the St. Jude Children's Research Hospital in Memphis, Tennessee, and colleagues identified 365 pathogenic or likely pathogenic mutations in 84 genes. (the-scientist.com)
In both groups, carrying a pathogenic or likely pathogenic mutation increased the risk of developing two or more secondary neoplasms-by 24-fold for non-irradiated survivors, or two-fold for those who received radiation. (the-scientist.com)

To report potentially pathogenic mutations in the keratin 3 ( KRT3 ) and keratin 12 ( KRT12 ) genes in two individuals with clinically diagnosed Meesmann corneal dystrophy (MECD). (molvis.org)
He and his colleagues also hope to expand the study to screen a wider swath of genes for potentially pathogenic mutations. (the-scientist.com)

To identify novel pathogenic mutations of the feline GLB1 gene. (vin.com)
Two novel pathogenic mutations in the feline GLB1 gene were identified in the different pedigrees of Japanese domestic shorthair cats. (vin.com)
In this study, we successfully identified the two novel pathogenic mutations in feline GM1 gangliosidosis. (vin.com)
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. (medscape.com)

The HPAI (H5) influenza A virus by egg inoculation and matrix (M) viruses have evolved and continue to evolve into many gene real-time reverse transcription PCR performed as genetic lineages and multiple clades ( 1 ). (cdc.gov)
Although many efforts in cancer prevention and control have routinely focused on behavioral risk factors, such as tobacco use, or on the early detection of cancer, such as colorectal cancer screening, advances in genetic testing have created new opportunities for cancer prevention through evaluation of family history and identification of cancer-causing inherited mutations. (cdc.gov)
Genetic mutations of the proteins in the neuromuscular junction are associated with Congenital myasthenic syndrome (CMS). (wikipedia.org)
Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. (rarediseases.org)
Often, gene variants that could cause a genetic disorder are repaired by certain enzymes before the gene is expressed and an altered protein is produced. (medlineplus.gov)
[6] [13] About half of these genetic cases are due to disease-causing variants in one of four specific genes . (wikipedia.org)
From Genes to Genetic Diseases: What Kinds of Mutations Matter? (sciencebuddies.org)
Our genes are made up of hundreds to millions of building blocks, called DNA nucleotides, and if just a single nucleotide of DNA becomes mutated it might cause a devastating genetic disease. (sciencebuddies.org)
What kinds of mutations have to occur to cause a genetic disease? (sciencebuddies.org)
In this science project, you will explore online genetic databases to identify how a mutation in a gene can result in a dysfunctional protein, and how other mutations may have no effect at all. (sciencebuddies.org)
Determine why some gene mutations cause genetic diseases, but others do not. (sciencebuddies.org)
Sometimes only a single DNA mutation (change in the DNA sequence) can cause a person to have a devastating genetic disease , and researchers have been able to identify mutations responsible for causing thousands of different genetic diseases and conditions. (sciencebuddies.org)
FMF is a recessive genetic disease associated with missense and nonsense mutations in the MEFV gene, which is located on the short arm of chromosome 16. (medscape.com)
These pathogenic variants, called "founder" mutations, increase the risk for associated genetic conditions within that group. (cooperhealth.org)
Background Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series. (bmj.com)
Genetic variation in over 50 genes contributes to the risk of developing neurodegenerative diseases. (bmj.com)
The development of gene-specific therapies for IRDs is hampered by their wide genetic heterogeneity. (tigem.it)
At the time of Messing and Brenner's experiments - the late-1990s - it was suspected that AxD had a genetic cause but no one knew which gene was responsible. (wisc.edu)
But even before such a project leads to new discoveries, we already know that many people have genetic mutations that make them more likely to get cancer, heart disease, and other conditions. (cdc.gov)
The list of genes includes the ones for the three genetic conditions mentioned earlier, as well as several others. (cdc.gov)

However, research has revealed that there is a small population of patients who do not carry the N88K mutation on either of their alleles, but instead have different mutations of the RAPSN gene on both of their alleles. (wikipedia.org)
Although certain mutations are more common in particular ethnic groups, patients usually inherit different mutations from each parent. (medscape.com)
The two families who had approached Amiel and another family who had lost a baby at four months of age each had different mutations present in the gene, her team found. (the-scientist.com)

In fact, the use of cfDNA for sensitizing and resistance somatic mutation detection in oncodrivers for NSCLC was integrated into the European Medicines Agency (EMA) approval. (nature.com)
Somatic BRCA mutations have been reported in CCA, but they have yet to be utilized in a proband case to identify HBOC in families. (frontiersin.org)
Somatic BRCA1/2 mutation analysis was performed by next-generation sequencing on the DNA extracted from a formalin-fixed, paraffin-embedded CCA biopsy specimen of their mother. (frontiersin.org)
For the first time, a CCA somatic BRCA mutation has been used to identify a family with HBOC. (frontiersin.org)
Because germinal DNA from the index case was unavailable, somatic BRCA1/2 mutation analysis was performed on the DNA extracted from the formalin-fixed, paraffin-embedded CCA biopsy material. (frontiersin.org)
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma. (cdc.gov)

Pathogenic variants in the patients impair the TMEM53-mediated blocking effect, thus leading to overactivated BMP signaling that promotes bone formation and contributes to the SBD phenotype. (nature.com)
To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. (molvis.org)
Analysis of the genotype-phenotype correlation showed that the early onset of high myopia with vitreous abnormalities may serve as a key indicator of Stickler syndrome, while the existence of mandibular protrusion in pediatric patients may be an efficient indicator for the absence of mutations in COL2A1 and COL11A1 . (molvis.org)
COL2A1 and COL11A1 are common candidate genes for Stickler syndrome, and both are related to the form of Stickler syndrome with an obvious ocular phenotype. (molvis.org)
More than 310 sequence variants in the MEFV gene have been identified, although not all not associated with a disease phenotype. (medscape.com)
However, further investigation of a larger population of patients with nail-patella syndrome (ideally sporadic) is needed to determine if this genotype-phenotype correlation is valid outside large pedigrees of nail-patella syndrome, which may be simultaneously segregating nephropathy-related genes. (medscape.com)

Lynch syndrome involves pathogenic mutations in DNA mismatch repair genes ( 7 ). (cdc.gov)
LS is a dominantly inherited condition with mutations in several mismatch repair (MMR) genes. (cdc.gov)

Heterozygous loss-of-function mutations in LMX1B cause nail-patella syndrome. (medscape.com)

Patients with CMS-related mutations of the rapsyn protein typically are either homozygous for N88K or heterozygous for N88K and a second mutation. (wikipedia.org)

Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B. (nih.gov)
Salehi R, Fisher CA, Bignell PA, Eslami G, Old JM, Identification of three novel mutations [-41 (A>C), codon 24 (-G), and IVS-I-109 (-T)], in a study of beta-thalassemia alleles in the Isfahan region of Iran. (ithanet.eu)
Identification of a Btk mutation in a dysgammaglobulinemic patient with reduced B cells: XLA diagnosis or not? (lu.se)
Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing. (lu.se)

Due to broader coverage and high sensitivity for insertions and deletions, sequencing via MAPs afforded important detection of additional actionable mutations. (nature.com)
The American College of Medical Genetics and Genomics (ACMG) has published an updated panel of 59 genes with clinically actionable mutations that they recommend be returned to people undergoing genome sequencing studies. (cdc.gov)

For the first time, researchers estimate the prevalence of pathogenic variants of breast cancer predisposition genes beyond BRCA1/2 in older women. (cancer.org)
One of the reasons is because few studies have specifically looked at predisposition genes in women over age 65 - either those who have been diagnosed with breast cancer, or those who haven't. (cancer.org)
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes. (cdc.gov)

Next-generation DNA sequencing of large panels of candidate genes (ie, targeted sequencing) or of the whole exome can rapidly and economically identify pathogenic mutations in familial DCM. (nih.gov)
Screening an extended panel of 41 candidate genes allowed us to identify probable pathogenic mutations in 69% of families with DCM in our cohort of mostly French-Canadian patients. (nih.gov)
Screening of potential novel candidate genes in schwannomatosis patients. (cdc.gov)

Direct-sequence analysis and RT-PCR were performed to identify the causative mutation using genomic DNA and total RNA samples collected from affected, carrier and normal cats. (vin.com)
With Messing and Brenner's discovery of the causative gene behind AxD, several things happened on both the clinical and research fronts. (wisc.edu)

Putative pathogenic mutations of the COL11A1 gene were absent in this cohort of patients. (molvis.org)
Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations. (lu.se)

The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. (nih.gov)
Basic understanding of what genes, DNA, and proteins are. (sciencebuddies.org)

The investigators compared the frequency of pathogenic germline mutations in monoallelic cancer-predisposing genes between patients who had experienced progression and those who had not. (medscape.com)
Pathogenic germline mutations were identified in 9% of patients (59 of 640) with Barrett esophagus who had high-grade dysplasia or esophageal adenocarcinoma and in only 2.7% of those who did not experience progression. (medscape.com)
Five participants (0.8%) had germline mutations in TP53 , and two (0.3%) had distinct, splice-donor mutations in CDH1 at intron 10. (medscape.com)
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis. (cdc.gov)
Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. (cdc.gov)

Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. (nih.gov)
Rothmund-Thomson syndrome, or poikiloderma congenitale, is a rare autosomal recessive disorder attributed to mutations of the RECQL4 helicase gene on 8q24. (medscape.com)

We confirmed the prevalence of TTN nonsense mutations in DCM. (nih.gov)

Reporting in American Journal of Human Genetics today (August 11), the researchers independently pinpointed the cause of the kids' deaths to inherited mutations in a single gene, PPA2, which codes for a mitochondrial enzyme. (the-scientist.com)
We provide strong evidence that the identified mutations are extremely detrimental to mitochondrial maintenance and function," Amiel and her colleagues wrote in their paper. (the-scientist.com)
Mitochondrial diseases are caused by mutations to mitochondrial DNA (mtDNA) gene or a mutation in a nuclear gene (nDNA). (mdlinx.com)
There are many kinds of mitochondrial diseases, and more than 250 pathogenic mutations to mtDNA have been reported. (mdlinx.com)

It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. (amrita.edu)
Here, we discover a previously unknown type of SBD in four independent families caused by bi-allelic loss-of-function pathogenic variants in TMEM53 , which encodes a nuclear envelope transmembrane protein. (nature.com)
In this study, we discover a previously unknown type of SBD and identify its causal gene, TMEM53 , which encodes nuclear envelope transmembrane (NET) protein 53 (TMEM53, also known as NET4). (nature.com)
This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. (nih.gov)
For example, in cystic fibrosis there is a mutation in a gene, called the CFTR gene, that encodes for a channel that controls the flow of particles in cells. (sciencebuddies.org)
Cystic fibrosis is caused by a mutation in the CFTR gene, which encodes for a chloride channel that is important for regulating water flow into, and out of, the cells. (sciencebuddies.org)
Rothmund-Thomson syndrome (poikiloderma congenitale) has been attributed to mutations of the RECQL4 gene on 8q24, which encodes a RecQ DNA helicase. (medscape.com)

Types 1 and 2 are caused by mutations in the COL2A1 (OMIM 120140 ) and COL11A1 (OMIM 120280 ) genes, respectively. (molvis.org)

When this syndrome is suspected, investigation of germline BRCA mutations based on specific risk factors is required ( 2 ). (frontiersin.org)
BRCA mutations were detected in 3.6% of biliary tract malignancies examined in a recent study ( 4 ). (frontiersin.org)

In this study, three novel and two known mutations in the COL2A1 gene were identified in six of 16 Chinese patients with Stickler syndrome. (molvis.org)
One mutation, in exon 1 at amino acid 148, may represent as many as one quarter of the known mutations. (medscape.com)

Furthermore, to our knowledge, we are the first to present an association between nonsense mutations in BAG3 and early-onset DCM. (nih.gov)

Approximately one in every 500 women in the United States is estimated to carry a BRCA1 or BRCA2 mutation ( 2 ). (cdc.gov)
Each year, BRCA1 and BRCA2 mutations account for 3% of all breast cancers and 10% of all ovarian cancers ( 3 ). (cdc.gov)
Persons are more likely to have a BRCA1 or BRCA2 mutation if they or their close relatives on either their mother's or father's side of the family have had breast cancer before age 50 years, triple negative breast cancer,* ovarian cancer, cancer in both breasts, breast cancer in a male relative, or multiple relatives with breast, pancreatic, or high grade prostate cancer ( 2 ). (cdc.gov)
A BRCA2 mutation was detected, and one of the two daughters tested positive for the same mutation, thus confirming HBOC syndrome in the family. (frontiersin.org)

Index case No. 1, 4 and 7 showed homozygosity for splice mutations at nucleotide position 659, intron 2 with a sequence change of A to G, while the index case No. 2 and 6 showed heterozygosity for the same mutation. (aku.edu)
Two splice variants have been identified for this gene. (wikipedia.org)
For example, 11% of VUS in hereditary cancer genes are splice site variants (Karam 2019). (jax.org)
Pathogenic variants can disrupt the splice sites at either end of the exon, create novel splice sites, reveal cryptic splice sites, or disrupt regulatory regions deep within the introns. (jax.org)

Mutation analysis was performed with the Oncomine BRCA1-2 Assay (Thermo Fisher Scientific, Carlsbad, CA, USA). (frontiersin.org)

In humans, prion disease can occur in individuals who inherited mutations in the prion protein gene. (nih.gov)
43 kDa receptor-associated protein of the synapse (rapsyn) is a protein that in humans is encoded by the RAPSN gene. (wikipedia.org)

AML with in-frame mutation in the bZIP domain of the CEBPA gene, either monoallelic or biallelic. (cancercentrum.se)

As corneal keratins naturally occur as obligate K3/K12 heterodimers, gene mutations altering the encoded protein of either KRT3 or KRT12 are expected to negatively impact the K3/K12 heterodimer complex. (molvis.org)
Most PC gene mutations change a single protein building block (amino acid) in pyruvate carboxylase, which reduces the amount of this enzyme in cells or disrupts its ability to effectively convert pyruvate to oxaloacetate. (medlineplus.gov)
For example, some variants alter a gene's DNA sequence but do not change the function of the protein made from the gene. (medlineplus.gov)
Many things can happen during this process to prevent a gene from turning into protein or to have a non-functional protein created. (sciencebuddies.org)
This gene codes for the protein known as pyrin or marenostrin. (medscape.com)
RNA testing looks for changes in gene expression, and protein analysis assesses structural changes in the protein product of the gene. (jax.org)
The GFAP gene codes for a protein called GFAP, which stands for glial fibrillary acidic protein. (wisc.edu)
12 out of the 13 samples had mutations in the GFAP gene which was causing the GFAP protein to misfold. (wisc.edu)
Huntington's disease (HD) is a devastating neurological disorder caused by mutations in the gene encoding huntingtin, a protein of unknown function. (icgeb.org)

A strategy, based on ARMS-PCR (Amplified Refractory Mutation System) was employed for the detection of mutations in 21-hydroxylase gene. (aku.edu)
These results show that diagnostic screening for CMS mutations of the RAPSN gene cannot be based exclusively on the detection of N88K mutations Interestingly, patients who bear the burden of CMS due to these rapsyn mutations often demonstrate a remarkable response to anticholinesterase drugs like pyridostigmine. (wikipedia.org)
Landrith (2020) demonstrated in increase of 9.1% in the detection of pathogenic variants in 18 hereditary cancer genes. (jax.org)

We present a novel KRT12 mutation, representing the first de novo mutation and the first indel in KRT12 associated with MECD. (molvis.org)
De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma. (lu.se)

You can simply use the ClinVar database to find all pathogenic mutation within regions of interest/gene (you can check the genomic coordinates of any gene using either UCSC or ensemble). (stackexchange.com)

Data from the Exome Aggregate Consortium (ExAC) allows a Bayesian approach to calculate penetrance, in that population frequencies of pathogenic germline variants should be inversely proportional to their penetrance for disease. (bmj.com)
Penetrance of pathogenic SDHA-C variants was calculated by comparing allelic frequencies in cases versus controls from ExAC (removing those variants contributed by The Cancer Genome Atlas). (bmj.com)

Characterization of pathogenic mutations in 21-hydroxylase gene of Pakistani patients with congenital adrenal hyperplasia and their family members--a preliminary report. (aku.edu)
Dive into the research topics of 'Characterization of pathogenic mutations in 21-hydroxylase gene of Pakistani patients with congenital adrenal hyperplasia and their family members--a preliminary report. (aku.edu)
Characterization of novel Bruton's tyrosine kinase gene mutations in Central European patients with agammaglobulinemia. (lu.se)

Familial forms of human prion disease include those associated with the mutations G114V and A117V, which lie in the hydrophobic domain of PrP. (nih.gov)
Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. (cdc.gov)

Some groups of people share common disease-associated variants in genes that have been passed on through families for generations. (cooperhealth.org)

[ 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)

The Human Genome Project has estimated that the human genome contains around 20,000 to 25,000 genes . (sciencebuddies.org)
Together, they designed mice to overexpress the GFAP gene by adding extra copies to the mouse genome. (wisc.edu)
What laboratory platforms should we use (e.g. sequencing the whole genome or selected genes only that we know lead to high risk of preventable conditions)? (cdc.gov)

Advances in sequencing technologies may allow for more efficient diagnosis of disease by combining analyses of phenotypes and gene mutations. (molvis.org)

Generation of single App knock-in mice reveals deletion mutations protective against the Alzheimer's disease-like pathology. (riken.jp)
The fact that the only change they had made in the mice to cause them to have Rosenthal fibers was to add additional copies of the GFAP gene, led Messing and Brenner to suggest that some malfunction of the GFAP gene was what caused Alexander disease. (wisc.edu)

RESULTS: Twenty-six specimens were analyzed for common point mutations in the 21-hydroxlase genes at the nucleotide positions 659, 1004 and 1688. (aku.edu)
No mutation was found at 659, 1004 or 1688 in index case No. 3 and 4 at the analyzed nucleotide position. (aku.edu)
CONCLUSION: Our results demonstrated the A to G transition at nucleotide 659 causing aberrant splicing, reported for some other populations as the most commonly identified point mutations. (aku.edu)
In a gene, if a single DNA nucleotide is mutated, for example from an adenine (A) to a guanine (G), this may cause the wrong amino acid to be made. (sciencebuddies.org)

Given that these mutations lie next to the glycine-rich region of PrP that can abrogate prion infection, these findings provide further support for small, protease-sensitive prion species having a significant role in the progression of prion disease and that the hydrophobic domain is an important determinant of PrP conversion. (nih.gov)
The second mutation can be a determining factor in the severity of the disease. (wikipedia.org)
Just because a gene is associated with a disease, does not mean that all variants in that gene are pathogenic. (medlineplus.gov)
GM1 gangliosidosis is a fatal, progressive, neurodegenerative lysosomal storage disease caused by mutations in the β-galactosidase ( GLB1 ) gene. (vin.com)
The disease caused by these novel mutations will be very important not only in feline veterinary medicine but also as an animal model for the human disease. (vin.com)
It's the first time this gene has been implicated in disease. (the-scientist.com)
Depending on which genes are affected, the disease can affect different organs, the muscles, or other systems. (mdlinx.com)
We found 2 truncating mutations in BAG3 in 4 DCM families (15%) and confirmed segregation with disease status by linkage (log of the odds [LOD] score = 3.8). (nih.gov)
Overall, these data support the potential use of miR-181a/b downregulation as an innovative mutation-independent therapeutic strategy for IRDs, which can be effective both to delay disease progression and to aid gene-specific therapeutic approaches. (tigem.it)
We had very strong statistical evidence that these were pathogenic mutations and that GFAP mutations accounted for nearly all cases of Alexander disease. (wisc.edu)
A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease. (lu.se)
In birds, highly pathogenic avian influenza is an extremely contagious and aggressive disease that causes rapid systemic illness and death in susceptible birds. (who.int)

[ 7 ] Most of the pathogenic mutations are in exon 10 of the gene between amino acids 680 and 761. (medscape.com)
Genes contain both coding (exon) and non-coding (introns) sections that are transcribed into mRNA. (jax.org)

Mutations in these genes are associated with increased risk for certain cancers, including colorectal cancer, and cancers of the endometrium and ovary ( 7 ). (cdc.gov)
A growing understanding of cancer molecular complexity and the role of oncogenic drivers such as mutations in genes encoding the epidermal growth factor receptor ( EGFR ), V-Ki-Ras2 Kirsten Rat Sarcoma 2 ( KRAS ), (MET) and Anaplastic Lymphoma Kinase (ALK) genes have ushered in the era of targeted therapies. (nature.com)
It was previously believed that women diagnosed with breast cancer after age 65 were unlikely to have been born with any high-risk breast cancer mutations. (cancer.org)
In the current study, 640 patients with Barrett esophagus and high-grade dysplasia or esophageal adenocarcinoma were tested for the presence and frequency of cancer-predisposing genes. (medscape.com)
Cite this: Mutations May Predict Progression From Barrett's to Cancer - Medscape - Aug 10, 2023. (medscape.com)
Childhood cancer survivors with mutations in certain cancer-risk genes have a higher risk of developing additional neoplasms later in life, according to research presented at the American Association for Cancer Research annual meeting. (the-scientist.com)
In total, 12 percent of the patients studied carried one of these mutations, which pose an increased risk of secondary cancer, Wang noted in his presentation at the American Association for Cancer Research (AACR) annual meeting in Washington, DC, yesterday (April 3). (the-scientist.com)
Those who hadn't were six times more likely to develop a secondary neoplasm if they carried one of the risk-associated mutations, while those who had been irradiated showed an increased risk only of breast cancer, thyroid cancer, or sarcoma. (the-scientist.com)
I think it makes complete sense to start with a list of cancer prediction genes," John Maris of the Children's Hospital of Philadelphia commented following Wang's presentation. (the-scientist.com)
But clearly it's possible that there are mutations or polymorphisms in [other] genes or enzymes," he added-for example, in those "that modify the effects of cancer radiation therapy. (the-scientist.com)

The PC gene is found on chromosome 11 . (medlineplus.gov)
90% of cases, mutations that from mutation in the dystrophin gene (located on short disrupt the reading frame (frame shift) lead to arm of X chromosome, Xp21). (who.int)

Thus, by evaluating these two genes, patients may obtain an early diagnosis, and early prophylactic measurements may be obtained. (molvis.org)
Diagnosis of Mutations in the dystrophin gene can cause Duchenne these disorders is based on clinical presentation, muscular dystrophy or Becker muscular dystrophy. (who.int)

Progression to esophageal adenocarcinoma in patients with mutations was seen across the age spectrum, suggesting that additional triggers, such as having Barrett esophagus and experiencing environmental exposures, may be necessary for carcinogenesis. (medscape.com)
The findings suggest that certain "mutations facilitate the progression of Barrett's esophagus to adenocarcinoma," the authors said. (medscape.com)

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects. (amrita.edu)
This is the first study in a cohort of Chinese patients with Stickler syndrome, and the results expand the mutation spectrum of the COL2A1 gene. (molvis.org)

Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s). (nih.gov)

Karam (2019) was able to reclassify 6.2% VUS to pathogenic. (jax.org)

SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors. (cdc.gov)

In this study, the ARSA gene in 12 non-consanguineous MLD patients and 40 healthy individuals was examined using polymerase chain reaction sequencing. (um.edu.my)
OBJECTIVE: To characterize specific mutations within the 21-hydroxylase gene (CYP21-B) using ARMS-PCR assay in patients with congenital adrenal hyperplasia (CAH) and to compare it with that reported in other populations. (aku.edu)
Studies have shown that most patients with CMS that have rapsyn mutations carry the common mutation N88K on at least one allele. (wikipedia.org)
It is estimated that these two genes are responsible for more than 95% of the mutations in patients with Stickler syndrome ( HGMD , last updated in March 2015). (molvis.org)
In select patients with the appropriate ethnic background, testing for a limited number of genes may be used. (medscape.com)
This possibility is supported by patients who meet criteria for FMF without identifiable mutations in MEFV and who have clinical manifestations that are indistinguishable from patients with MEFV mutations. (medscape.com)

Results Pathogenic SDHA-C variants were identified in 106 subjects (18.4%) in cohort 1 and 317 subjects (25.6%) in cohort 2. (bmj.com)

Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. (nih.gov)

Title : Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child with Static Hypomyelinating Leukodystrophy Personal Author(s) : Purnell, Shawn M.;Bleyl, Steven B.;Bonkowsky, Joshua L. (cdc.gov)

Naturally occurring Bruton's tyrosine kinase mutations have no dominant negative effect in an X-linked agammaglobulinaemia cellular model. (lu.se)

Anatomy10

Organisms10

Diseases44

Chemicals and Drugs64

Analytical, Diagnostic and Therapeutic Techniques and Equipment31

Psychiatry and Psychology1

Phenomena and Processes96

Disciplines and Occupations2

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Named Groups3

Health Care7

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Missense mutations5

Variant14

Likely pathogenic2

Potentially pathogenic mutations2

Novel pathogenic mutations4

Genetic20

Different mutations3

Somatic6

Phenotype6

Mismatch repair2

Loss-of-function mutati1

Homozygous1

Identification4

Actionable mutations2

Predisposition genes3

Candidate genes3

Causative2

Putative2

Proteins2

Germline mutations5

Autosomal recessive disorder2

Prevalence1

Mitochondrial4

Encodes7

OMIM1

BRCA2

Known mutations2

Nonsense mutations1

BRCA24

Splice4

BRCA11

Humans2

Monoallelic1

Protein9

Detection3

Novo mutation2

Genomic1

Penetrance2

Characterization3

Familial2

Variants in genes1

Genetics1

Genome3

Phenotypes1

Mice2

Nucleotide4

Disease12

Exon2

Cancer10

Chromosome2

Diagnosis2

Progression2

Spectrum2

Reveals1

20191

Tumors1

Patients6

Cohort1

Congenital1

Exome1

Dominant1