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Mutations in Medical News

Genome of Leukemia Patient Reveals Common Mutations

... acute myeloid leukemia (AML) revealed genetic mutations that may be common among other cancer patients. ... in a second patient with AML. Neither of the mutations had been previously linked to leukemia. The fact that these mutations sometimes occur in other patients suggest they ...

TGen-led team is 1 of 7 selected for $1 million skin-cancer grants

... with multiple melanoma patients have identified mutations in two genes that strongly predispose to the disease, but these mutations are found only in a minority of families. "To ... chromosomal locations for disease-predisposing mutations in melanoma families. We will also work towards ...

Boehringer Ingelheim to Commence Phase III Study Investigating the Role of BIBW 2992 as First-Line Treatment for Non-Small Cell Lung Cancer (NSCLC) Patients with EGFR Mutations

... 3 trial studying BIBW 2992 in patients with EGFR mutations will be important as we continue to work towards ... diagnostic test kit for BIBW 2992 to identify mutations of the EGFR in patients with NSCLC. Under the ... adenocarcinoma of the lung and activating EGFR mutations (LUX-Lung 2)." 2009 WCLC, Oral Presentation ....

New drug for children with high-risk leukemia

... options. Dr. Izraeli first discovered JAK2 mutations in children who initially suffered from Down ... Dr. Izraeli was then inspired to screen for gene mutations that could result in increased proliferation of ... of two very similar ― but different ― mutations that apparently do the same thing in a cellular ...

Gene Mutation Could Be Key to Rare Blood Vessel Disease

... WEDNESDAY, July 22 (HealthDay News) -- mutations in a protein called thrombomodulin, which is ... risk of developing aHUS," Conway said. mutations in different complement proteins that cause ... "In seven patients, we identified six different mutations in a protein that is on the surface of ...

Study Shows a Link Between Schizophrenia & Genetic Mutations

... genes on the X-chromosome has been identified. mutations in a subset of these regulatory RNA genes may ... because they are much more commonly affected by mutations in genes on the X-chromosome. Eight ultra-rare ... NOT on the X-chromosome, so it is possible that mutations in the miRNA genes can predispose to 20% or more ...

Researchers identify individuals at risk for developing colon cancer

... of individuals who are born with certain genetic mutations and are at increased risk for developing colon ... analyzed DNA from individuals who are born with mutations that cause defects in the pathways that put sugar ... unknown. This study discovered the presence of mutations in a group of enzymes, called GALNTs, which are ...

JNCI news brief: Hepatitis B virus mutations may predict risk of liver cancer

... Certain mutations in the DNA of the hepatitis B virus (HBV) are ... have looked at whether patients with specific mutations in the viral DNA may be at increased risk of ... 2,801 had HCC. The researchers found that certain mutations were associated with development of HCC and more ...

Another Genetic Link to Testicular Cancer Is Found

... cancer patients and found seven different mutations in a gene called PDE11A. Healthy men did not have the mutations. "The mutations don't cause cancer directly, but instead appear ... of testicular cancer. Learning more about how mutations in PDE11A affect testicular cancer risk could ...

Second gene linked to familial testicular cancer

... Specific variations or mutations in a particular can gene raise a man's risk of ... The researchers found that seven different mutations in the gene in question, PDE11A, created abnormal ... the enzyme's destruction of cyclic AMP. "The mutations don't cause cancer directly, but instead appear ...

Cancer Researchers Link DICER1 Gene Mutation to Rare Childhood Cancer

... demonstrates the first definitive link between mutations in the gene DICER1and cancer. By studying the ... Studying tumor cells for genetic mutations has led to many advances in the understanding of ... quickly, setting the stage for additional genetic mutations in cells that then become cancerous. Hill's team ...

New Cancer Drug Fights Tumors in Those With BRCA Mutations

... Women who carry BRCA1 and BRCA2 gene mutations are susceptible to developing breast and ovarian cancer, and among men these mutations are related to an increased risk for prostate ... effects. In addition, among people with the BRCA mutations the drug shrunk tumors in breast, ovarian and ...

Structures from the human immune system's oldest branch shed light on a range of diseases

... immune-mediated diseases," said Lambris. mutations in factor H are associated with age-related ... as dense deposit disease. "We observed that mutations in factor H could weaken its binding activity to ... explains Lambris. Correlating disease-related mutations with functional consequences is likely to give ...

No Benefit in Testing for Genes Linked to Leg Clots

... report shows. The presence of two gene mutations called Factor V Leiden and prothrombin G20210A ... to conclude that genetic testing for the two gene mutations in adults with a history of blood clots helps ... of patients who have at least one of the two gene mutations as well as a history of deep vein thrombosis. ...

Most common brain cancer may start in neural stem cells

... One of these key alterations involves mutations in genes that are players in the p53 pathway. But ... in p53-mediated pathways works with other mutations to transform brain cells into cancerous ones. ... cells. "We found that the cells with p53 mutations are highly plastic. If a treatment blocks one ...

Quest Diagnostics Introduces First Comprehensive Laboratory Test To Analyze KRAS, NRAS, and BRAF Gene Mutations in Reflex Testing Service

... Test analyzes in sequential reflex fashion more mutations potentially inhibiting anti-EGFR therapy response ... in a single reflex test offering, genetic mutations in the KRAS , NRAS and BRAF genes. The test ... cancer (mCRC) patients who, because of certain mutations of the epidermal growth factor receptor (EGFR) ...

Most common brain cancer may originate in neural stem cells

... One of these key alterations involves mutations in genes that are players in the p53 pathway. But ... in p53-mediated pathways works with other mutations to transform brain cells into cancerous ones. ... cells. "We found that the cells with p53 mutations are highly plastic. If a treatment blocks one ...

Cancer cells need normal, nonmutated genes to survive

... While they rely on vices in the form of genetic mutations to wreak havoc, they must sustain their activity, ... actually leverage many genes that don't harbor mutations to maintain their malignant lifestyles," says ... onethe presence or absence of a Ras oncogene. Ras mutations are prevalent in many deadly cancers, and ...

The vulnerable cancer cell

... for survival. The researchers studied cells with mutations in KRAS, the most commonly mutated gene in human ... quite simply, is that cancers bearing oncogenic mutations in a kinase are dependent on that kinase for ... as a genetic interaction where the combination of mutations in two or more genes leads to cell death. For ...

Gene Mutation May Up Risks of Endometrial Cancer

... aimed at these more aggressive tumors." ATR mutations were found in about 5 percent of the 248 ... analyzed by the researchers. Women with ATR mutations were 4.29 times more likely to have the cancer ... plan to see if the prognostic value of ATR mutations can be confirmed in a larger group of women and ...

Breast Cancer Action Sues to End Gene Patenting

... every human. However, people with certain genetic mutations on these genes are at an increased risk of ... holds exclusive rights to these genes and their mutations and to the research performed on them. Testing for the BRAC1 and BRAC2 mutations can only be performed at Myriad labs and ...

ACLU Challenges Patents on Breast Cancer Genes

... women's options regarding their medical care. mutations along the genes, known as BRCA1 and BRCA2, are ... other entities but also has the rights to future mutations discovered on the BRCA2 gene. The gene patents ... genetic testing to determine if they have the mutations on their BRCA genes that put them at increased ...

Quest Diagnostics Discovers New Genetic Mutations Affecting Cystic Fibrosis Screening

... because insights into the more than 1,500 mutations affecting the CFTR gene are enhancing the medical ... who exhibits previously undescribed (novel) mutations that include deletions, or the absence, of large ... deletions. "The failure to identify these CFTR mutations in carriers could increase the potential that ...

New oncogene gives valuable insight into hepatocellular tumors in humans

... of hepatocellular adenomas (HCA). Moreover, GP130 mutations will enable the refinement of the molecular ... obesity and alcohol intake. Recently, somatic mutations were identified that activated GP130 in 60% of ... This study aimed to evaluate frequency of GP130 mutations in a wide series of tumours. Dr Jessica ...

Gene Studies Reveal Cancer's Secrets

... with acute lymphoblastic leukemia (ALL) who have mutations in the JAK tyrosine kinase gene generally have ... of 221 children with the disease. Although JAK mutations were not previously known to occur in children ... discovered in 10 percent of these patients. The mutations were associated with a deletion of the genes ...

First noninvasive technique to accurately predict mutations in human brain tumors

... to the point where the identification of the mutations that cause tumors has changed how we treat ... to identify a tumor mutation. Historically tumor mutations have been identified in only one way: take the ... of cancer research is evolving to a point where mutations can facilitate care, so a more accurate diagnosis ...

Genetic source of rare childhood cancer found; gene is implicated in other cancers

... cancer an important model for understanding how mutations and loss of DICER1 function lead to cancer," says ... from an unusual mechanism in which cells carrying mutations induce nearby cells to become cancerous without ... the children studied with PPB carried damaging mutations in one of their DICER1 genes, giving them one ...

HIV handicaps itself to escape immune system pressure

... cells. The authors show that a set of three mutations in HIV's Gag protein, which makes up the viral ... 20 times slower than normal. However, these same mutations effectively eliminate the ability of CTLs to ... so that in an infected person, once all three mutations are in place, viral abundance shoots upwards. ...

Discovery of variations in resistance to sulfadoxine across Africa

... them. Scientists have discovered that the mutations that caused resistance to chloroquine and ... late 1970s and early 1980s respectively. These mutations are now common across Africa and it is no longer ... they spread across the continent. However, the mutations that cause resistance to sulfadoxine only began ...

Genetic Finding May Lead to Male Contraceptive

... THURSDAY, April 2 (HealthDay News) -- Gene mutations that cause infertility in men could point the way ... He and his colleagues discovered the gene mutations while analyzing the genetics of families in Iran ... are relatively high rates of disease-causing gene mutations -- to identify the genetic causes of deafness. ...

Danon Disease Can Be Quickly Fatal, Study Finds

... or heart muscle disorder, linked to genetic mutations in the lysosome-associated membrane protein gene ... course of these seven patients with LAMP2 mutations provides important insights regarding molecular ... cardiomyopathy," the researchers wrote. "LAMP 2 mutations cause a particularly profound and accelerated ...

Penn researchers identify new protein important in breast cancer gene's role in DNA repair

... pathway goes haywire. Identifying patients with mutations in these BRCA1-associated genes may help better ... said ongoing studies have confirmed that mutations to the RAP80 gene occur in human populations and ... of how MERIT40 works by looking for MERIT40 mutations in breast cancer patients. ...

Researchers develop DNA 'patch' for canine form of muscular dystrophy

... dystrophy vary in the locations and kinds of the mutations occurring in the gene. Also, many boys with Duchenne muscular dystrophy have mutations that affect multiple exons, and so would require ... a cocktail of morpholinos to patch the multiple mutations that occur in the human form of the disorder. ...

QLT announces completion of Phase Ia safety trial of its synthetic retinoid product

... LCA and Retinitis Pigmentosa (RP) arise from gene mutations of enzymes or proteins required in the ... cycle and visual function. Two different gene mutations (Retinal pigment epithelium protein 65 (RPE65) ... models. These experiments used mice that have mutations in either the RPE65 or LRAT genes, the same as ...

Cell pathway on overdrive prevents cancer response to dietary restriction

... Whitehead Member David Sabatini. "We think that mutations in the PI3K pathway are a major determinant of ... which is activated by insulin/IGF1. A search for mutations in two genes found in the PI3K pathway that are ... and PTEN), revealed that DR-resistant cells had mutations in one or the other of the genes, while ...

Late-Life Fatherhood May Lower Child's Intelligence

... researchers suggested. "We suspect that more mutations accumulate in sperm as the dads age," said Dr. ... and the study's lead researcher. "These mutations may cause subtle changes in the way the brain ... lifetime. Studies suggest that sperm may gain mutations as men grow older, the researchers said. ...

'Personalized' genome sequencing reveals coding error in gene for inherited pancreatic cancer

... of a genome scanning system to uncover suspect mutations in normal inherited genes. The findings, they ... gene, BRCA2, to repair broken DNA. mutations in BRCA2 are also known to cause hereditary forms ... the search was designed to track down particular mutations that caused certain proteins to be shortened, a ...

Men With BRCA Gene Mutations Unaware of Cancer Risks

... in which some members have BRCA1 or 2 gene mutations -- which boost the risk for breast and ovarian ... That's true even though men who carry these mutations "have a 50 percent chance of passing them on to ... said. Most cancers associated with BRCA1 and 2 mutations are seen in women, but men with ...

Gene Mutation Linked to Inherited ALS

... the journal Science . "We found a series of mutations in a gene that interacts with biological pathways ... had a single copy of the mutation. No FUS/TLS mutations were found in a control group of 1,446 North ... Eventually, the researchers found FUS/TLS mutations in other families involved in earlier research ...

2 gene mutations linked to most common brain cancers -- and longer survival

... and Duke University Medical Center have linked mutations in two genes, IDH1 and IDH2, to nearly ... did not have alterations in IDH1 had equivalent mutations in another closely related gene, IDH2. "For patients with these types of common brain tumors, mutations of IDH1/IDH2 are the most frequent genetic ...
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