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ATM Gene mutation - Crossref

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Last Updated: 10 June 2022

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Germline mutations in ATM, CHEK2, and other known/potential breast cancer susceptibility genes among BRCA-negative Uruguayan patients with breast cancer.

"10596 Background: Breast cancer is the most common and leading cause of cancer death in Uruguayan women. " We discovered BRCA1/2 germline mutations in less than half of the Uruguayan breast/ovarian cancer families studied, according to a previous analysis. We developed genetic testing facilities at the University Hospital with the intention of identifying and characterizing germline mutations in non-BRCA identified susceptibility and likely susceptibility genes, as well as the promise to ensure a broad reach. Methods: We looked at 104 families that met the National Comprehensive Cancer Network's eligibility of hereditary BC. Four additional susceptibility genes included in a genetic panel were sequenced and analyzed for 42 cases BRCA negative, including nine additional genes included in a genetic panel. MLPA testing was negative for analysis of large deletions in BRCA1/2 in 24 cases without mutations in the genetic panel, a majority. Alternatively, complete exome sequencing of germline DNA from 22 cases negative for BRCA1/2 and the genetic panel revealed 18 variants, 16 that produce stop codons and 2 that cause deletion of the termination codon, indicating a high risk of pathogenicity. Large deletions of BRCA in cases that are negative for BRCA and the extended genetic panel are not a contributing cause of cancer susceptibility in this population, according to the negative findings obtained with MLPA. Otherwise, full exome sequencing of 22 patients with no new evidence of connection with breast and ovarian cancer was found by mistakenly PV in genes with no recent evidence of connection with breast and ovarian cancer. ".

Source link: https://doi.org/10.1200/jco.2022.40.16_suppl.10596


Genomic analysis reveals somatic mutations of ATM gene in DNA repair confer exceptional target lesion response to radiation therapy.

"130 Background: Somatic mutations of DNA repair genes that help with chemotherapy resistance and poor prognosis may result in chemotherapy resistance and poor prognosis, as well as poor prognosis, and poor prognosis, but it may also increase sensitivity to radiation therapy. " Methods: We found patients who underwent both RT to gross disease and NGS panel screening between 2013 and 2019 using a prospectively gathered RT registry. Using a propensity score based on radiation dose and histology, a cohort of 134 patients, 33 patients with somatic mutation in ATM or BRCA 1/2 were identified and closely matched with 33 patients without mutation in ATM or BRCA 1/2. Infield response rate was determined in 66 patients with 90 gross lesions, according to the study.

Source link: https://doi.org/10.1200/jgo.2019.5.suppl.130


Real-world prevalence of homologous recombination repair gene ( BRCA1/2 and ATM ) mutations (HRRm) in patients (pts) with advanced prostate cancer (aPC) as detected by comprehensive genomic profiling (CGP) of circulating cell-free DNA (cfDNA).

"We investigated the prevalence of HRRm in a real-world aPC population and had commercially available cfDNA assay results. " Results: cfDNA CGP from 7701 aPC pts were available for testation of BRCA1/BRCA2 mutations, as well as ATM mutations from 4671 aPC pts for ATM mutations. BRCA1 and 2 prevalence was similar to that of historical CGP primary tissue, as demonstrated by cfDNA. Prevalence of ATM in cfDNA was higher than historic tumor tissue CGP, but it was similar to previous reports from cfDNA testing. Conclusions: The HRRm in this large real-world population of pts treated as a PC in a CLIA-registered lab was similar to that obtained from the tumor tissue. These results show that these results support the use of cfDNA CGP as a common measure for detecting HRM in men with aPC to identify men who are candidates for PARPi. ".

Source link: https://doi.org/10.1200/jco.2021.39.6_suppl.256


Risk of Cancer by ATM Missense Mutations in the General Population

"We tested the hypothesis that ATM Ser49Cys and ATM Ser707Pro heterozygosity raise the risk of breast cancer risk, breast cancer risk, and 26 other cancer subtypes in the general population. " Patients and Methods We genotyped 10,324 people from the Danish general population who were followed prospectively for 36 years, of which 2,056 died of cancer. Overall, 0. 8 for breast cancer, 0. 6 for thyroid/other endocrine tumors, and 2. 7 for corpus uteri cancer were among the breast cancer, thyroid/other endocrine tumors, and 2. 7 for cancer of corpus uteri. Conclusions: ATM missense mutations do not raise the risk of breast cancer or breast cancer in the general population, nor do breast cancer in the general population; however, we found in exploratory studies that ATM missense mutations may be associated with an elevated risk of other cancer subtypes. ".

Source link: https://doi.org/10.1200/jco.2007.14.6613


Analysis of Clinical and Genetic Characterization of Three Ataxia–Telangiectasia Pedigrees With Novel ATM Gene Mutations

"The aim of this research was to investigate the clinical characteristics and genetic characteristics of five pediatric patients with AT from three pedigrees in China. " Two female patients in pedigree I, one male patient in pedigree II, and two male patients in pedigree III were among the five patients with AT, including two female patients in pedigree I, two female patients in pedigree II, and two male patients in pedigree III. Variants classification in Rare Disease 2020 to determine the genetic variants, according to the United Kingdom Association for Clinical Genomic Science Best Practice Guidelines for Variants Classification in Rare Disease 2020 to classify the genetic variants. One patient had recurrent infections, five patients had serum Immunoglobulin A deficiency, five others had serum Immunoglobulin A deficiency, and two patients had IgG deficiencies. Pediatric patients with classical AT may experience dystonia as the primary sign, or even the first sign, rather than traditional cerebellar ataxia, bulbar conjunctive telangiectasia, etc. We also found three new pathogenic ATM gene variants, raising the ATM pathogenic gene mutation spectrum.

Source link: https://doi.org/10.3389/fped.2022.877826


ATM gene mutations in sporadic breast cancer patients from Brazil

According to "Women heterozygous for ATM mutations have an estimated risk of breast cancer in 3. 8 percent. " However, the pattern of ATM mutations and their role in breast cancer etiology has been mixed, and remains unclear. In addition, evidence of potential ATM mutations was present in 7 of the 100 breast cancer cases studied. These potential mutations were identified in exon 13, exon 20, exon 42, exon 49, exon 42, exon 49, exon 49, exon 42, exon 42, exon 49, exon 49, exon 40, exon 41, exon 49, and exon 42, exon 49, exon 49, exon 49, exon 49, exon 49, exon 49, and exon 50, including one nonsense mutation in exon 39 a truncated protein truncated exon 20 ton 42 t, exon 42, exon 49, exon 49, exon 49 t, exon 49, exon 49, exon 49 t, exon 49, exon 49, exon 49 t, exon 49, exon 49 t 49, exon 49, exon 49, exon 49 ton 49, exon 49, exon 49, exon 49, exon 49, exon 49 t, exon 49 t, exon 49 ton 49 Conclusions Our findings support the fact that sporadic breast tumors may have arisen in carriers of low penetrance ATM mutant alleles and these mutations have different risk factors for breast cancer risk.

Source link: https://doi.org/10.1186/s40064-015-0787-z


Mutation and genomic deletion status of ataxia telangiectasia mutated ( ATM ) and p53 confer specific gene expression profiles in mantle cell lymphoma

"While mantle cell lymphoma commonly harbors inactivated ataxia telangiectasia mutated and p53 alleles, no information is available about the molecular phenotypes triggered by these genetic variations. " In a series of cyclin D1-positive MCL cases and correlated genotype with gene expression profiles and overall survival, we identified point mutations and genomic deletions in these genes and correlated genetic expression profiles. In 56% and 26% of the cases investigated, respectively, mutationated and/or deleted ATM and p53 alleles were discovered in 56% and 26% of the cases examined. Although MCL patients with inactive p53 alleles had a dramatic decrease in median overall survival, but persistent ATM status did not indicate for survival. Nevertheless, specific gene expression signatures indicating the mutation and genomic deletion status of each gene for each gene were found in experiments that were not normal. This information on molecular phenotypes may lead to new areas of inquiry into ATM operation or may be exploited by developing specific drugs for MCL cases with p53 aberrations. ".

Source link: https://doi.org/10.1073/pnas.0510441103

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions