Pancreatic Tumor Analysis Leads to Risky Germline Mutations Jul 5, 2016. New U of Manchester Center Looks to Grow Proteomics ...

Lynch Syndrome Analysis Suggests Patients Can Be Stratified for Surveillance Based on Mutation Type ...

CRISPR Editing in Mice Disrupts Glaucoma-Causing Gene Mutation Jan 11, 2016 ...

Epizyme Partnering With Quest Diagnostics for Lymphoma Mutation Testing May 10, 2021 ...

Rare Mutation Found Among Amish Population Protects Against Some Effects of Aging ...

Small Cell Lung Cancer Study Uncovers Disease-Associated Germline Mutations The study, which showed that the disease may not ...

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FDA Approves Entrogens RAS Mutation Detection Kit as CDx for Vectibix * Cancer Predisposition Variants Increase Secondary ...

A startup says its DNA laser printing approach can create probiotics to make womens vaginas smell like peaches.

The two companies vow to break the bottleneck for NGS sample prep with their automated instruments, which are based on electrowetting technology.

Fifteen patients have been sequenced thus far as part of the IDIOM study and mutations have been found in 10 patients, but only ... Functional studies, the researchers add, indicate that mutations affecting the channel can lead to a loss of ion selectivity ... and her sister to find that the girl has a de novo missense mutation in the KCNB1 gene, which encodes a voltage-gated potassium ...

FDA Approves Entrogens RAS Mutation Detection Kit as CDx for Vectibix * Cancer Predisposition Variants Increase Secondary ...

FDA Approves Entrogens RAS Mutation Detection Kit as CDx for Vectibix * Cancer Predisposition Variants Increase Secondary ...

FDA Approves Entrogens RAS Mutation Detection Kit as CDx for Vectibix * Cancer Predisposition Variants Increase Secondary ...

Researchers Report on Recurrent Mutations in Down Syndrome-related Myeloid Condition, Blood Cancer ...

Our proteogenomic analyses provide signaling pathways correlated with somatic mutations, oncogene and tumor suppressor ... to their own data and found that the EOGCs showed a different mutation landscape than the late-onset cancers (LOGCs). ... but somatic mutations should be analyzed separately for young and old patients. ... positive tumors with recurrent PIK3CA mutations, DNA hypermethylation, and amplification of JAK2, CD274, and PDCD1LG2; tumors ...

Some CHIP characteristics varied by driver gene mutation. For instance, JAK2 CHIP mutation carriers were generally younger than ... They relied on a pre-selected list of leukemogenic driver mutations to identify these CHIP carriers. In all, they uncovered ... As people age, they can acquire somatic mutations that lead to clonal expansion within their population of regenerating ... This variant predisposes individuals to developing CHIP driven by a number of somatic mutations, suggesting the variant doesnt ...

People with this mutation are guaranteed to get Alzheimers; they start to lose their memory in their mid-40s and their ... Those who inherit mutations in these genes are sure to get Alzheimers, but these markers only account for between 1 percent ... "The genetic effect of APOE and TOMM40 is not measured accurately by genome-wide SNP screening data because the mutations that ... Many in the town of Medellin and surrounding regions also carry mutations in the presenelin 1 gene, which impairs the ability ...

Biocartis has already launched a solid biopsy BRAF mutation test for melanoma and a solid biopsy KRAS mutation test for ... The panel qualitatively detects nucleic acids from influenza A as well as subtypes H1, H3, and 2009 H1; the H275Y mutation of ...

Part of the reason is their reliance on DNA mutation detection.. The major obstacles to improved sensitivity include a "limited ... To try to move beyond mutations, the Toronto team developed a technique to isolate, detect, and profile low levels of ... number of recurrent mutations available to distinguish between tumor and normal … in a cost-effective manner," the authors ...

"Once a mutation is identified [using whole-exome or -genome sequencing], we dont need to do exome or genome sequencing for the ... That sort of role, testing a known mutation in family members, will likely continue for Sanger, she added, even as next-gen ... "We simply Sanger sequence that one region where the mutation exists." Additionally, she said, Sanger will have a role double- ... "We dont need to sequence the whole gene; we simply sequence that particular region containing the known mutation," Lyon said. ...

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.. Choi A, Lao R, Ling-Fung Tang P, Wan E, et al.. ... Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.. Jelinic P, Mueller JJ, Olvera N, Dao F, et al.. Nat Genet. ... Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.. Pan X, Chen X, Liu X, Gao X, et al ... Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.. Xu Y, Guan L, Shen ...

"The first potential of circulating DNA is to detect mutations," said Thierry. "Liquid biopsies allow us to follow up the ... a quantitative PCR-based approach for detecting cancer-associated mutations in circulating DNA. Thierry remains a scientific ...

Overall, certain mutations indicated that a line is resistant to many compounds. For instance, mutations in STK11, EGFR, and ... Further, they were able to identify a number of known mutation-based sensitivities. For example, they found that BRAF mutant ... They also tested the sensitivity of CTNNB1 mutant lines harboring mutations in their degradation boxes and saw that they had ... They added that as CTNNB1 mutations appear to increase b-catenin protein levels, any small molecule that increases b-catenin ...

These genes were gauged to be likely mutation-intolerant by the ExAC database. By focusing on the X chromosomes of affected ... A number of these novel genes were uncovered in multiple families: mutations in PHF3, which encodes a PHD finger protein that ... males, the researchers noted an additional seven genes with multiple loss-of-function mutations. ...

Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing. Nota B, ... BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders.. Damm F, Chesnais V, Nagata Y, Yoshida K, et al. ... A mutation in the nuclear pore complex gene Tmem48 causes gametogenesis defects in skeletal fusions with sterility (sks) mice. ... Heterozygous mutations in the ADCK3 gene in siblings with cerebellar atrophy and extreme phenotypic variability.. Blumkin L, ...

"We know its not one gene thats causing autism spectrum disorders; its a background of mutations, which we know is important ... At the same time, they found that mutation burden overall - in both essential and non-essential genes - was associated with ... and 10.74 inherited rare damaging mutations in essential genes. ...

And, while the exome kits captured between 90 percent and 99 percent of coding mutations in the CFTR gene, there is a noncoding ... In the study, the authors highlight two clinically important genes - RPGR, in which over 300 mutations are associated with ... a list of 5,419 genes in which mutations are known to cause disease or disease-related drug response. The list included genes ... mutation, which is recommended for carrier screening that all platforms, except for whole-genome sequencing and ACE, failed to ...

In particular, some 42 percent of those included in the study harbored point mutations or indels affecting TP53. Mutations in ... "Although a common set of driver mutations exists in each cancer type, the combination of drivers within a cancer type and their ... They were also quite common in some forms of breast cancer and in some cancers lacking mutations to most other significantly ... For the new analysis, researchers used exome sequence profiles and other data types for 3,281 tumors to define mutation types ...

Target point mutations and HBV integrations are enriched via a method the authors said is "similar to rapid amplification of ... "In previous cancer genomic studies, most HBV-associated HCCs harbor at least one mutation in … TP53, CTNNB1, AXIN1, or the TERT ... Genetron describes its own approach as combining both cfDNA mutation detection and measurement of plasma proteins. ...