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  • missense mutation
  • Characterization of the mutations revealed that the single-amino-acid deletion affecting the TEL patch surface of the TPP1 protein significantly compromises both telomerase recruitment and processivity, while the missense mutation in the TIN2-binding region of TPP1 is not as clearly deleterious to TPP1 function. (nih.gov)
  • We detected, in five families that did not meet the complete Amsterdam criteria, five alterations, including a double-base change resulting in a missense mutation (Lys-618-Ala), a splicing mutation affecting the intron 4 splice acceptor site, a 2-bp deletion at codon 726, a 7-bp deletion at codon 626, and a deletion of exons 13-16. (aacrjournals.org)
  • patients
  • In view of this discrepancy, we examined the frequency of ATM germline mutations in a selected group of Dutch patients with breast cancer. (nih.gov)
  • A high percentage of ATM germline mutations was demonstrated among patients with sporadic breast cancer. (nih.gov)
  • Among these patients we identified seven (8.5%) ATM germline mutations, of which five are distinct. (nih.gov)
  • Patients with holoprosencephaly (HPE), a disorder associated with germline mutations disrupting Sonic hedgehog (SHH) signaling, were clinically evaluated for NAFLD. (nih.gov)
  • In addition, thus far, RET mutations only accounted for 50% and 15-20% of familial and sporadic HSCR patients, respectively. (nih.gov)
  • Germ line mutations of hMSH2 gene were identified in 5 independent families in which colorectal (87% of patients), endometrial (30%), ovarian (17%), gastric (14%), and other cancers existed. (springer.com)
  • In addition to these 11 families already diagnosed with HNPCC, 3 new families with germ line mutations of hMSH2 gene and hMLH1 gene were found through analysis of DNA from patients who had multiple cancers with alteration in microsatellite DNA. (springer.com)
  • This will allow easier diagnosis of patients with Parkinson s disease due to mutations in this gene. (michaeljfox.org)
  • It can be a useful tool for other research groups, and could be especially important for recruitment of patients with GBA mutations to clinical trials, because this method, unlike other methods, will be able to identify all forms of GBA mutations. (michaeljfox.org)
  • Further phenotypic characterization of affected patients and functional assessment of ETV6 germline variants, in progress, will be required to reveal the clinical effects of these mutations, their incidence in patients with ALL and their role in leukemogenesis. (aacrjournals.org)
  • In patients with HER2-negative metastatic breast cancer with a germline BRCA mutation, olaparib significantly prolonged progression-free survival vs standard therapy. (ascopost.com)
  • As reported in the Plenary Session at the 2017 ASCO Annual Meeting and in The New England Journal of Medicin e by Robson et al, the phase III OlympiAD trial showed that the poly (ADP-ribose) polymerase (PARP) inhibitor olaparib (Lynparza) prolonged progression-free survival vs standard therapy in patients with HER2-negative metastatic breast cancer with a germline BRCA mutation. (ascopost.com)
  • Of 598 patients, 30.6% had SDHx germline mutations: 34.4% in SDHB , 14.2% SDHC , and 51.4% SDHD . (aacrjournals.org)
  • Germline mutations of SDHx are present in āˆ¼30% of HNP patients ( 7 - 14 ). (aacrjournals.org)
  • codon
  • These mutations included an AG deletion at codons 877-878 of hMSH2 gene, an AAG deletion at codons 616-618 of hMLH1 gene, and a Cā†’T single-base substitution at codon 217 of hMLH1 gene. (springer.com)
  • clinically
  • The results of this study show that the single-molecule PCR technique provides a new and efficient experimental system for monitoring the genetic effects of anticancer drugs, capable of detecting increases in mutation rates at clinically relevant doses of exposure. (aacrjournals.org)
  • SYNDROME
  • Germline KRAS mutations cause Noonan syndrome. (nih.gov)
  • We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome. (nih.gov)
  • These studies establish germline KRAS mutations as a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyperactive Ras. (nih.gov)
  • Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. (nih.gov)
  • Collectively, these findings suggest that germline ETV6 mutations are associated with a novel syndrome of thrombocytopenia with susceptibility to leukemia. (aacrjournals.org)
  • Recent evidence indicates that individuals with a p53 germ-line mutation (Li-Fraumeni syndrome) have a 50% risk of developing lung cancer by age 60. (aacrjournals.org)
  • To date, 19 individuals have been tested, and the mutation has been shown to cosegregate with the syndrome. (aacrjournals.org)
  • A germ-line mutation in KIT resulting in an amino acid substitution in the juxtamembrane region is associated with a syndrome of GIST, hyperpigmentation, and dysphagia, although the prominence of each component varies. (aacrjournals.org)
  • loci
  • We calibrate a scoring system from protein domain alignments to score mutations and their target loci. (genetics.org)
  • YHRD has updated with new mutation rates for Y-STR loci. (blogspot.com)
  • Unstable ESTR loci consist of homogenous arrays of short repeats (4-6 bp) and show very high spontaneous mutation rates in the mouse germ line, observed as size changes in the alleles of these loci ( 10 - 12 ). (aacrjournals.org)
  • Decades of mutation rate analyses have focused on a relatively small number of loci because of technical limitations. (blogspot.com)
  • increase in mutation
  • 1) The only data point from the YRI family that we have suggests that there is a 5-fold increase in mutation rate from the maternal YRI contribution relative to the CEU maternal contribution. (blogspot.com)
  • detection
  • Moreover, the detection of high-level expression of minimally phosphorylated epidermal growth factor receptor (EGFR) in both TT and MZ-CRC-1 cells, together with our data on the effects of EGF stimulation on the proteomic profiles and the response to Gefitinib treatment, suggest the relevance of EGFR signaling in these cell lines, especially since analysis of 14 archival MTC specimens revealed EGFR mRNA expression in all samples. (nih.gov)
  • The dose-response of ethylnitrosourea-induced mutation was found to be very close to that previously established using a pedigree-based approach for ESTR mutation detection. (aacrjournals.org)
  • In families in which germ line mutations were identified presymptomatic examination was then carried out using polymerase chain reaction single-strand conformation polymorphism analysis of DNA from peripheral blood, and the result was the detection of family members predisposed to HNPCC who did not yet show signs of cancer. (springer.com)
  • Because of the presence of the pseudogene, it is often difficult to identify mutations in the gene using traditional mutation detection techniques. (michaeljfox.org)
  • Manson-Bahr D, Ball R, Gundem G, et al, 2015 Mutation detection in formalin-fixed prostate cancer biopsies taken at the time of diagnosis using next-generation DNA sequencing. (springer.com)
  • hotspots
  • In contrast to the SV hotspots described above which are predominantly driven by meiotic recombination, rates of nucleotide substitution occur by a variety of mechanisms and the mutation rate is influenced to a much greater extent by mitotic mechanisms ( Crow, 2000 ). (pubmedcentralcanada.ca)
  • 3) There is strong evidence that differences in PDRM9 between populations dramatically shifts recombination hotspots and linkage disequilibrium patterns across populations, why couldn't SNP mutations also differ across populations? (blogspot.com)
  • suggests
  • The persistence and recurrence of noncoding gain-of-function mutations in these cases suggests that telomerase activation is not only safely tolerated but also advantageous for clonal expansion. (jci.org)
  • receptor
  • Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. (nih.gov)
  • Using a proteomic-multiplexed analysis of the phosphotyrosine signaling together with antibody-based validation techniques, we identified several candidate molecules for RET (rearranged during transfection) tyrosine kinase receptor carrying mutations responsible for the multiple endocrine neoplasia type 2A and 2B (MEN2A and MEN2B) syndromes in two human medullary thyroid carcinoma (MTC) cell lines, TT and MZ-CRC-1, which express the RET-MEN2A and RET-MEN2B oncoproteins, respectively. (nih.gov)
  • Mutations of the androgen receptor (AR) gene have been reported in prostate cancer, usually from tumor tissue specimens from late-stage, androgen-independent cancer. (semanticscholar.org)
  • lymphoblastoid
  • The cDNA sequence was amplified from a lymphoblastoid cell line derived from patient III-1. (nih.gov)
  • EBV-transformed lymphoblastoid B cell lines (LCLs) derived from subjects with TERT promoter mutations showed increased telomerase expression and activity compared with cell lines from family members with identical coding mutations. (jci.org)
  • Chromosomes were harvested from biopsy specimens, peripheral blood lymphocytes, or lymphoblastoid cell lines according to established procedures. (aacrjournals.org)
  • families
  • However, few studies have assessed the contribution of such mutations in HPC families, and results have been inconsistent across studies ( 18 - 20 ). (aacrjournals.org)
  • thus
  • Thus, pinpointing the key alterations (driver mutations) from a background of variations with no direct causal link to cancer (passenger mutations) is difficult. (genetics.org)