Sentences with phrase «high tumor mutation»

Patients with both high tumor mutation burden and high PDL - 1 positive status had a 75 percent response rate compared with a 16 percent response rate to immunotherapy among patients with low mutation burden and low PDL - 1.

«The good news is that we discovered that a subset of patients who had both high tumor mutation burden and high PDL - 1 positive status did experience a significant benefit from immunotherapy,» says Carbone.

Not exact matches

In this special section of Science, expert contributors retrace the long and tortuous path leading to the mapping and identification of the BRCA1 gene; discuss the ways in which BRCA mutation status has been integrated into the clinical management of patients in high - risk families; and highlight the role of the BRCA proteins in preserving the structural and numerical integrity of chromosomes throughout the cell cycle, a function that may explain their tumor suppressor activity.

With a less efficient helicase and therefore less efficient DNA repair, Martin suggests, atherosclerotic lesions could arise like tumors from mutations in single cells, besides their well - known origin from chronic inflammation from high - fat diets.

The approach is already routine for some cancer patients, such as women and men with breast cancer tumors that have high levels of a protein called HER2, or lung cancer tumors with mutations in the EGFR gene.

«Based on mutations we found in the genome, there is evidence of high levels of oxidative stress in the tumors,» Dyer said.

Previous work on cartilage tumors has been done using models based on genetic mutations that occurred only rarely in enchondromas; however, IDH mutations are present in a high percentage of enchondromas.

Importantly, elevated BRCA1 methylation was confined to patients diagnosed with so - called high - grade serous tumors, the most aggressive variant of ovarian cancer, which also is the variant associated with BRCA1 mutations.

«This gene mutation can be in both the blood and the tumor tissue of patients, and in the tissue, it's in high percentages,» said Ko, the study's corresponding author.

«High concordance between EGFR mutations from circulating - free tumor DNA and tumor tissue in non-small cell lung cancer.»

Because older sperm tend to have more chromosomal mutations — ranging in seriousness from harmless to lethal — there is among older fathers a higher rate of kids born with certain rare tumors, neural - tube defects, congenital cataracts, and upper limb defects.

But mutations, which are found in 96 percent of patients with high - grade serous ovarian tumors, can cause p53 to form clumps, or «aggregates,» which impair the protein's normal function.

«In addition to having a higher prevalence of triple - negative breast cancers than Caucasian women — something that has been documented in previous studies — we found that African American women with breast cancer had a significantly higher prevalence of the TP53 driver mutation, basal tumor subtype and greater genomic diversity within tumors, all of which suggest more aggressive tumor biology,» says Tanya Keenan, MD, of the MGH Cancer Center, lead author of the study.

Researchers found that tumors carrying mutations in the AR and FOXA1 pathways had a significantly higher response rate, 94.1 % compared to 16.6 % in tumors without the mutations.

In contrast, because of the high incidence of TP53 mutations in the HPV - inactive class, these tumors may be less responsive to the standard cisplatin chemotherapy and more sensitive to other chemotherapies such as dasatinib.»

«Not only do you have more of the traditional stem cells (on a high - fat diet), but now you have non-stem-cell populations that have the ability to acquire mutations that give rise to tumors.»

Mutation rates ten-fold higher than typical lung cancers in humans, though within three-fold of «hypermutator» tumors with mutations in DNA repair genes.

«With 100 million mutations, each capable of altering a protein in some way, there is a high probability that a significant minority of tumor cells will survive, even after aggressive treatment,» said study director Chung - I Wu, PhD, professor of ecology and evolution at the University of Chicago.

Such high redundancy of coverage enabled us to accurately compute allele frequency, and thereby, the fraction of tumor cells harboring each mutation.

That's why it's possible to have a very high validation rate (> 90 %) for somatic mutations in solid tumors like lung cancer.

The six tumors with matched normal DNA harbored 15 somatic mutations on average (range 3 - 31), a mutation rate lower than adult GBM but higher than another pediatric brain tumor, medulloblastoma.

Screening of several other pediatric brain tumors revealed that the histone H3 mutations seem exclusive to pediatric high - grade gliomas.

Most tumors contain fewer than 10 of the driver mutations, but the number of total mutations — passenger and driver — can climb far higher, from a dozen or so in neuroblastoma to approximately 200 in lung cancer.

«But it was not enough for the mutations simply to be present; they needed to be enriched in the tumor — present at higher frequency.

Research from the Pediatric Cancer Genome Project has identified new mutations in pediatric brain tumors known as high - grade gliomas, including tumors like diffuse intrinsic pontine glioma pictured in this MRI.

Thus, tumors with loss of heterozygosity (LOH) at 9p21 - the chromosomal location of p16 - should have a high frequency of intragenic mutations in the other allele that block gene function.

The St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project has identified new mutations in pediatric brain tumors known as high - grade gliomas (HGGs), which most often occur in the youngest patients.

This novel vaccine encodes the tumor antigen TERT, which is highly expressed in tumor cells, and is particularly high in tumor samples from patients with mutations in DNA damage repair pathways, such as the BRCA1 / BRCA2 pathway.

Association and prognostic significance of BRCA1 / 2 - mutation status with neoantigen load, number of tumor - infiltrating lymphocytes and expression of PD - 1 / PD - L1 in high grade serous ovarian cancer.

The idea is that mutations driving cancer are positively selected for during tumor development, and so their frequencies should be higher than those of passenger mutations.

Early spaying may therefore, reduce occurrence of malignant lesions because the procedure removes the source of the hormones that cause some mammary cells to lose growth control, which puts these dividing cells at high risk for mutation and malignant transformation by environmental carcinogens.In fact, recent reports have identified activation of a specific oncogene in a number of canine mammary tumors.