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Journal articles on the topic 'Truncating mutation'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

Kataoka, Hiroshi, Hinata Fukuoka, Shiho Makabe, et al. "Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations." Journal of Clinical Medicine 9, no. 1 (2020): 146. http://dx.doi.org/10.3390/jcm9010146.

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Autosomal dominant polycystic kidney disease (ADPKD) patients with PKD1 mutations, particularly those with truncating mutations, show poor prognosis. However, the differences in disease progression with different mutation types are unclear. Here, a comparative study was conducted on the renal prognosis of patients with ADPKD who were categorized based on genotype (PKD1 versus PKD2 mutation), mutation type (truncating mutation: nonsense, frameshift, splicing mutation, and large deletion; non-truncating mutation: substitution and in-frame deletion), and mutation position. A total of 123 patients

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2

Uyanik, G., N. Elcioglu, J. Penzien, et al. "Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome." Neurology 66, no. 7 (2006): 1044–48. http://dx.doi.org/10.1212/01.wnl.0000204181.31175.8b.

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Background: Andermann syndrome (OMIM 218000) is an autosomal recessive motor-sensory neuropathy associated with developmental and neurodegenerative defects. The cerebral MRI reveals a variable degree of agenesis of the corpus callosum. Recently, truncating mutations of the KCC3 gene (also known as SLC12A6) have been associated with Andermann syndrome.Methods: The authors assessed clinically and genetically three isolated cases from Germany and Turkey with symptoms consistent with Andermann syndrome.Results: The authors detected four novel mutations within the KCC3 gene in their patients: two d

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3

Kang, Minyong, Yong Ho Shin, Jae Young Joung, and Seong Il Seo. "Genomic analysis of mitochondrial mutations in chromophobe renal cell carcinoma by using low-depth whole genome sequencing." Journal of Clinical Oncology 37, no. 7_suppl (2019): 553. http://dx.doi.org/10.1200/jco.2019.37.7_suppl.553.

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553 Background: Mitochondria have a circular genome that is independent of the nuclear genome of the nucleus. Mutations of mitochondrial DNA rarely occur during tumorigenesis. Chromophobe renal cell carcinoma (chRCCC) is a type of kidney tumor characterized by a morphologic abnormality of mitochondria. However, there is still little research on the existence of mitochondrial mutation in chRCC and how it plays a role in tumorigenesis. Here, we investigated the mutation patterns of mitochondria genome in chRCC using low-depth sequencing technique. Methods: We evaluated 17 patients with chRCC who

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Kenvin, Sebastian, Ruben Torregrosa-Muñumer, Marco Reidelbach, et al. "Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism." Human Molecular Genetics 31, no. 6 (2021): 958–74. http://dx.doi.org/10.1093/hmg/ddab299.

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Abstract Mutations in mitochondrial DNA encoded subunit of ATP synthase, MT-ATP6, are frequent causes of neurological mitochondrial diseases with a range of phenotypes from Leigh syndrome and NARP to ataxias and neuropathies. Here we investigated the functional consequences of an unusual heteroplasmic truncating mutation m.9154C&gt;T in MT-ATP6, which caused peripheral neuropathy, ataxia and IgA nephropathy. ATP synthase not only generates cellular ATP, but its dimerization is required for mitochondrial cristae formation. Accordingly, the MT-ATP6 truncating mutation impaired the assembly o

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5

Lanktree, Matthew B., Elsa Guiard, Pedram Akbari, et al. "Patients with Protein-Truncating PKD1 Mutations and Mild ADPKD." Clinical Journal of the American Society of Nephrology 16, no. 3 (2021): 374–83. http://dx.doi.org/10.2215/cjn.11100720.

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Background and objectivesProgression of autosomal dominant polycystic kidney disease (ADPKD) is highly variable. On average, protein-truncating PKD1 mutations are associated with the most severe kidney disease among all mutation classes. Here, we report that patients with protein-truncating PKD1 mutations may also have mild kidney disease, a finding not previously well recognized.Design, setting, participants, & measurementsFrom the extended Toronto Genetic Epidemiologic Study of Polycystic Kidney Disease, 487 patients had PKD1 and PKD2 sequencing and typical ADPKD imaging patterns by magn

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Gąsior-Perczak, Danuta, Artur Kowalik, Krzysztof Gruszczyński, et al. "Incidence of the CHEK2 Germline Mutation and Its Impact on Clinicopathological Features, Treatment Responses, and Disease Course in Patients with Papillary Thyroid Carcinoma." Cancers 13, no. 3 (2021): 470. http://dx.doi.org/10.3390/cancers13030470.

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The CHEK2 gene is involved in the repair of damaged DNA. CHEK2 germline mutations impair this repair mechanism, causing genomic instability and increasing the risk of various cancers, including papillary thyroid carcinoma (PTC). Here, we asked whether CHEK2 germline mutations predict a worse clinical course for PTC. The study included 1547 unselected PTC patients (1358 women and 189 men) treated at a single center. The relationship between mutation status and clinicopathological characteristics, treatment responses, and disease outcome was assessed. CHEK2 mutations were found in 240 (15.5%) of

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Gamallat, Yaser, Mitra Afsharpad, Soufiane El Hallani, et al. "Large, Nested Variant of Urothelial Carcinoma Is Enriched with Activating Mutations in Fibroblast Growth Factor Receptor-3 among Other Targetable Mutations." Cancers 15, no. 12 (2023): 3167. http://dx.doi.org/10.3390/cancers15123167.

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The large, nested variant of urothelial carcinoma (LNVUC) is characterized by bland histomorphology mimicking that of benign von Brunn nests. In the current study, we aimed to investigate the Fibroblast Growth Factor Receptor-3 (FGFR-3) activation and missense mutation in 38 cases, including 6 cases diagnosed with LNVUC and 32 with metastatic invasive urothelial carcinoma (UC). Initially, six formalin-fixed paraffin-embedded (FFPE) tissue samples of the LNVUC were subjected to whole-exome sequencing (WES), and then we performed targeted sequencing on 32 cases of metastatic invasive UC of vario

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8

Sin, Seung Ho, Jung Hwan Yoon, Sang Woo Kim, Won Sang Park, and Hiun Suk Chae. "A Case of Sporadic Multiple Colonic Polyps in a Young Woman." Current Oncology 30, no. 2 (2023): 1293–99. http://dx.doi.org/10.3390/curroncol30020100.

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Sporadic colorectal cancer arises from an adenoma. As mutations in the adenomatous polyposis coli (APC) tumor suppressor gene have been frequently detected in colorectal adenomas, the APC gene is considered a gatekeeper in colorectal carcinogenesis. Here, we report a case of sporadic multiple colonic adenomas that were accompanied by an APC-truncating mutation. A 25-year-old Korean woman presented with dozens of incidentally found colonic polyps. There was no family history of colorectal polyposis or colon cancer in her first or second-degree relatives. All the polyps were removed endoscopical

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9

Fennell, Lochlan J., Alexandra Kane, Cheng Liu, et al. "APC Mutation Marks an Aggressive Subtype of BRAF Mutant Colorectal Cancers." Cancers 12, no. 5 (2020): 1171. http://dx.doi.org/10.3390/cancers12051171.

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Background: WNT activation is a hallmark of colorectal cancer. BRAF mutation is present in 15% of colorectal cancers, and the role of mutations in WNT signaling regulators in this context is unclear. Here, we evaluate the mutational landscape of WNT signaling regulators in BRAF mutant cancers. Methods: we performed exome-sequencing on 24 BRAF mutant colorectal cancers and analyzed these data in combination with 175 publicly available BRAF mutant colorectal cancer exomes. We assessed the somatic mutational landscape of WNT signaling regulators, and performed hotspot and driver mutation analyses

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10

Zhang, Lingxia, Shugang Wang, Ruoque Mao, et al. "Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations." Genetics Research 2022 (July 19, 2022): 1–10. http://dx.doi.org/10.1155/2022/1473260.

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Background. Both Lowe syndrome and Dent-2 disease are caused by variants in the OCRL gene. However, the reason why patients with similar OCRL gene mutations presented with different phenotypes remains uncertain. Methods. Children with hemizygous pathogenic or likely pathogenic variants in OCRL were compiled from published and unpublished consecutive cases from China. Furthermore, a Chi-square test was employed to analyze the correlation of the location and types of mutations on the phenotype of children with Lowe syndrome or Dent-2 disease. Results. Among the total 83 patients, 70.8% (34/48) c

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11

Borck, Guntram, Liat de Vries, Hsin-Jung Wu, et al. "Homozygous truncating PTPRF mutation causes athelia." Human Genetics 133, no. 8 (2014): 1041–47. http://dx.doi.org/10.1007/s00439-014-1445-1.

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12

Ledet, Elisa M., Nicholas Mitsiades, Ellen B. Jaeger, Calvin Y. Chao, and A. Oliver Sartor. "CDK12 pathogenic mutations in African American and White patients with prostate cancer." Journal of Clinical Oncology 41, no. 6_suppl (2023): 38. http://dx.doi.org/10.1200/jco.2023.41.6_suppl.38.

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38 Background: African American (AA) men are underrepresented in prostate cancer (PC) trials but have a greater probability of both developing and dying from prostate cancer (PC) than other populations. CDK12 mutations in PC are associated with aggressive disease, increased metastasis, and decreased overall survival. Some preliminary data has suggested that CDK12 mutations may be more common in AA men. This study reports data from next-generation sequencing (NGS) of tissue from a large population of patients with PC in the real-world setting to investigate frequency of pathogenic CDK12 mutatio

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13

Cybulski, Cezary, Dominika Wokołorczyk, Anna Jakubowska, et al. "Risk of Breast Cancer in Women With a CHEK2 Mutation With and Without a Family History of Breast Cancer." Journal of Clinical Oncology 29, no. 28 (2011): 3747–52. http://dx.doi.org/10.1200/jco.2010.34.0778.

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Purpose To estimate the risk of breast cancer in a woman who has a CHEK2 mutation depending on her family history of breast cancer. Patients and Methods Seven thousand four hundred ninety-four BRCA1 mutation–negative patients with breast cancer and 4,346 control women were genotyped for four founder mutations in CHEK2 (del5395, IVS2+1G>A, 1100delC, and I157T). Results A truncating mutation (IVS2+1G>A, 1100delC, or del5395) was present in 227 patients (3.0%) and in 37 female controls (0.8%; odds ratio [OR], 3.6; 95% CI, 2.6 to 5.1). The OR was higher for women with a first- or second-degr

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Balasubramanian, Suresh Kumar, Mai Ali, Taha Bat, et al. "Distinct Clinical and Biological Implications of Various DNTMT3A Mutations in Myeloid Neoplasms." Blood 128, no. 22 (2016): 2872. http://dx.doi.org/10.1182/blood.v128.22.2872.2872.

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Abstract DNMT3A, a member of the DNA methyltransferases family along with DNMT1 and DNMT3B, is located on chromosome 2p23. Recurrent somatic mutations in DNMT3A are typically heterozygous and found mostly in non-CBF AML, less frequently in MDS and MPN. DNMT3A mutations are reported with other common myeloid mutations including NPM1, FLT3 and IDH1/2. The most canonical DNMT3A mutations are missense alteration in the R882 codon, accounting for >60% of all DNMT3A mutations and they imply dominant negative consequences. Overall, DNMT3A mutations carry a poor prognosis compared to the AML or MDS

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15

Nakata, Yuki, China Nagano, Yukihito Imagawa, et al. "Clinical and Biochemical Characteristics of Pseudohypoaldosteronism Type 1 with and Without Genetic Mutations: A Literature Review." Journal of Clinical Medicine 14, no. 13 (2025): 4408. https://doi.org/10.3390/jcm14134408.

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Background/Objectives: Pseudohypoaldosteronism type 1 (PHA-1) is a rare disorder characterized by aldosterone resistance, leading to hyponatremia, hyperkalemia, and elevated renin and aldosterone levels in neonates and infants. While genetic mutations in NR3C2 (mineralocorticoid receptor, MR) and SCNN1A/B/G (epithelial sodium channel, ENaC) are established causes of primary PHA-1, cases without detectable mutations have also been reported. This study aimed to compare the clinical characteristics of genetically confirmed PHA-1 cases—with or without mutations—and to assess genotype–phenotype cor

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16

Liu, Qian, Haoqian Chen, Teresa Ojode, et al. "WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4." Blood 120, no. 1 (2012): 181–89. http://dx.doi.org/10.1182/blood-2011-12-395608.

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Abstract WHIM syndrome is a rare, autosomal dominant, immunodeficiency disorder so-named because it is characterized by warts, hypogammaglobulinemia, infections, and myelokathexis (defective neutrophil egress from the BM). Gain-of-function mutations that truncate the C-terminus of the chemokine receptor CXCR4 by 10-19 amino acids cause WHIM syndrome. We have identified a family with autosomal dominant inheritance of WHIM syndrome that is caused by a missense mutation in CXCR4, E343K (1027G → A). This mutation is also located in the C-terminal domain, a region responsible for negative regulatio

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17

Thai Phan, Hao. "A Case of Dilated Cardiomyopathy caused by TTN Truncating Mutation." International Journal of Advanced Multidisciplinary Research and Studies 4, no. 3 (2024): 612–15. http://dx.doi.org/10.62225/2583049x.2024.4.3.2830.

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Dilated cardiomyopathy is one of the leading causes of heart failure with high morbidity and mortality. Although more than 40 genes have been reported to cause dilated cardiomyopathy, the role of genetic testing in clinical practice is not well defined. Mutations in the titin (TTN) gene represent an important subset of known disease-causing mutations associated with dilated cardiomyopathy. TTN truncating mutations are a common cause of dilated cardiomyopathy, occurring in approximately 25% of familial cases of idiopathic dilated cardiomyopathy and in 18% of sporadic cases. Here, we presented a

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18

Scarpa, Frank J., Madhuri Paul, Rachel Daringer, Sally Agersborg, Vincent A. Funari, and Forrest J. Blocker. "Abstract 2281: Molecular profiling of the RUNX1 RUNT domain in myeloid disorders." Cancer Research 82, no. 12_Supplement (2022): 2281. http://dx.doi.org/10.1158/1538-7445.am2022-2281.

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Abstract Background: AML with RUNX1 mutation is a provisional entity in the WHO classification. RUNX1 variants generally consist of truncating mutations throughout the gene, as well as SNVs, insertions, and deletions in the RUNT domain. In the germline setting, these mutations may lead to familial platelet disorders and have profound implications in donor selection for allogeneic stem cell transplant. Approximately half of mutations in RUNX1 are classified as variants of unknown clinical significance (VOUS), underscoring the unmet needs of this patient population. Methods: Bone marrow, periphe

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Lissanu Deribe, Yonathan, Yanxia Shi, Kunal Rai, et al. "Truncating PREX2 mutations activate its GEF activity and alter gene expression regulation in NRAS-mutant melanoma." Proceedings of the National Academy of Sciences 113, no. 9 (2016): E1296—E1305. http://dx.doi.org/10.1073/pnas.1513801113.

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PREX2 (phosphatidylinositol-3,4,5-triphosphate-dependent Rac-exchange factor 2) is a PTEN (phosphatase and tensin homolog deleted on chromosome 10) binding protein that is significantly mutated in cutaneous melanoma and pancreatic ductal adenocarcinoma. Here, genetic and biochemical analyses were conducted to elucidate the nature and mechanistic basis of PREX2 mutation in melanoma development. By generating an inducible transgenic mouse model we showed an oncogenic role for a truncating PREX2 mutation (PREX2E824*) in vivo in the context of mutant NRAS. Using integrative cross-species gene expr

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Zhang, Haijiao, Anna Reister Schultz, Samuel B. Luty, et al. "Definition of the Minimal Truncated Elements Necessary for CSF3R Leukemogenic Potential." Blood 128, no. 22 (2016): 2735. http://dx.doi.org/10.1182/blood.v128.22.2735.2735.

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Abstract An increasing number of CSF3R cytoplasmic domain truncation (nonsense and frameshift) and missense mutations are being identified with the wide application of next generation sequencing (NGS) to leukemia patient samples. Previous studies have demonstrated oncogenic potential of some CSF3R truncation mutations seen in severe congenital neutropenia, chronic neutrophilia leukemia (CNL), and Philadelphia-negative atypical chronic neutrophilic leukemia (aCML) patients. However, full understanding of the spectrum of CSF3R cytoplasmic mutations harboring leukemogenic potential as well as the

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Sakaguchi, Yuri, Tomoko Uehara, Hisato Suzuki, Kenjiro Kosaki, and Toshiki Takenouchi. "Truncating mutation in CSNK2B and myoclonic epilepsy." Human Mutation 38, no. 11 (2017): 1611–12. http://dx.doi.org/10.1002/humu.23307.

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Laudadio, Jennifer, Michael W. N. Deininger, Michael J. Mauro, Brian J. Druker, and Richard D. Press. "An Intron-Derived Insertion/Truncation Mutation in the BCR-ABL Kinase Domain in Three CML Patients Undergoing Kinase Inhibitor Therapy." Blood 110, no. 11 (2007): 1953. http://dx.doi.org/10.1182/blood.v110.11.1953.1953.

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Abstract Although targeted inhibition of BCR-ABL with imatinib is an effective therapy for patients with chronic myeloid leukemia, a minority acquire mutations in the kinase domain (KD) that cause imatinib resistance. The spectrum of KD mutations thus far discovered, although quite heterogeneous, includes almost exclusively single nucleotide substitutions in key amino acids regulating drug binding or BCR-ABL function. Here, we describe a KD insertion/truncation mutation in 3 CML patients undergoing kinase inhibitor therapy. Two of these patients were being treated with imatinib (for 12 and 17

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Gąsior-Perczak, Danuta, Artur Kowalik, Janusz Kopczyński, et al. "Relationship between the Expression of CHK2 and p53 in Tumor Tissue and the Course of Papillary Thyroid Cancer in Patients with CHEK2 Germline Mutations." Cancers 16, no. 4 (2024): 815. http://dx.doi.org/10.3390/cancers16040815.

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The aim of this study was to determine whether the expression of CHK2 and p53 in tumor tissue in carriers of germline CHEK2 mutations can serve as a prognostic marker for PTC, and whether CHEK2 and TP53 copy numbers correlates with the course of PTC disease. This study included 156 PTC patients previously tested for the presence of CHEK2. Clinicopathological features, treatment response, disease outcome, and germline mutation status of the CHEK2 gene were assessed with respect to CHK2 and p53 expression, and CHEK2 and TP53 gene copy statuses. In patients with and without a germline mutation in

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Adam, Franziska C., Jakub Szybinski, Jörg P. Halter, et al. "Co-Occurring CSF3R W791* Germline and Somatic T618I Driver Mutations Induce Early CNL and Clonal Progression to Mixed Phenotype Acute Leukemia." Current Oncology 29, no. 2 (2022): 805–15. http://dx.doi.org/10.3390/curroncol29020068.

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Chronic neutrophilic leukemia (CNL) relates to mutational CSF3R activation with membrane proximal CSF3R mutations such as T618I as driver mutations, but the significance of truncating mutations is not clarified. In CNL, concomitant mutations promote disease progression, but insight into longitudinal acquisition is incomplete. In this study, we investigated the role of co-occurring germline and somatic CSF3R mutations in CNL, and assessed the impact of clonal evolution on transformation to acute leukemia. We employed sequential next generation sequencing and SNP array karyotyping to assess clon

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Bugiardini, Enrico, Emanuela Bottani, Silvia Marchet, et al. "Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations." Neurology Genetics 6, no. 1 (2020): e381. http://dx.doi.org/10.1212/nxg.0000000000000381.

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ObjectiveTo describe the clinical and functional consequences of 1 novel and 1 previously reported truncating MT-ATP6 mutation.MethodsThree unrelated probands with mitochondrial encephalomyopathy harboring truncating MT-ATP6 mutations are reported. Transmitochondrial cybrid cell studies were used to confirm pathogenicity of 1 novel variant, and the effects of all 3 mutations on ATPase 6 and complex V structure and function were investigated.ResultsPatient 1 presented with adult-onset cerebellar ataxia, chronic kidney disease, and diabetes, whereas patient 2 had myoclonic epilepsy and cerebella

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di Masi, Alessandra. "May a missense mutation be more deleterious than a truncating mutation?" IUBMB Life 60, no. 1 (2007): 79–81. http://dx.doi.org/10.1002/iub.2.

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Camacho, Emma, Luis Hernández, Silvia Hernández, et al. "ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances." Blood 99, no. 1 (2002): 238–44. http://dx.doi.org/10.1182/blood.v99.1.238.

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The ataxia–telangiectasia mutated (ATM) gene codifies for a protein critically involved in the cellular response to DNA damage. ATM alterations have been observed in some sporadic lymphoproliferative disorders. The recurrent 11q22-23 deletions found in mantle cell lymphoma (MCL) suggest that ATM could be inactivated in these lymphomas. In this study, ATM gene alterations and protein expression were examined in 20 and 17 MCL tumor specimens, respectively. Previously, these patients had been examined forp53 and p14ARF gene status and analyzed by comparative genomic hybridization. Nine patients h

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Couch, Fergus J., Michele R. Johnson, Kari Rabe, et al. "Germ Line Fanconi Anemia Complementation Group C Mutations and Pancreatic Cancer." Cancer Research 65, no. 2 (2005): 383–86. http://dx.doi.org/10.1158/0008-5472.383.65.2.

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Abstract Biallelic mutations in Fanconi anemia complementation group genes disrupt DNA repair and result in the complex Fanconi anemia phenotype. In addition, germ line mutations in the BRCA2/FANCD1 Fanconi anemia complementation group gene have also been implicated in predisposition to a number of cancers including pancreatic cancer. The recent identification of FANCC and FANCG mutations in resected pancreatic tumors selected for loss of heterozygosity on chromosome 9, some of which were present in the germ line DNA, suggests that inactivation of these and other Fanconi complementation group

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Watson, Patrice, Rita Lieberman, Carrie Snyder, Vanessa J. Clark, Henry T. Lynch, and Jeffrey T. Holt. "Detecting BRCA2 Protein Truncation in Tissue Biopsies to Identify Breast Cancers That Arise in BRCA2 Gene Mutation Carriers." Journal of Clinical Oncology 27, no. 24 (2009): 3894–900. http://dx.doi.org/10.1200/jco.2008.20.5211.

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Purpose Mutations in the BRCA2 gene are dominantly inherited but cause cancers when the wild-type allele has loss of heterozygosity (LOH) within the cancer. Because most disease-associated BRCA2 mutations are protein-truncating mutations, a test for truncated BRCA2 proteins should identify most BRCA2 hereditary cancers. Methods We have developed a tissue truncation test to identify truncated BRCA2 proteins in breast cancer tissue biopsies in vivo that does not use amplification or genetic manipulations. N-terminal and C-terminal antibodies are used to visualize protein truncation by demonstrat

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Welzel, Maik, Leyla Akin, Anja Büscher, et al. "Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1." European Journal of Endocrinology 168, no. 5 (2013): 707–15. http://dx.doi.org/10.1530/eje-12-1000.

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BackgroundPseudohypoaldosteronism type 1 (PHA1) is a monogenic disease caused by mutations in the genes encoding the human mineralocorticoid receptor (MR) or the α (SCNN1A), β (SCNN1B) or γ (SCNN1G) subunit of the epithelial Na+ channel (ENaC). While autosomal dominant mutation of the MR cause renal PHA1, autosomal recessive mutations of the ENaC lead to systemic PHA1. In the latter, affected children suffer from neonatal onset of multi-organ salt loss and often exhibit cystic fibrosis-like pulmonary symptoms.ObjectiveWe searched for underlying mutations in seven unrelated children with system

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Kozák, Eszter, Jonas W. Bartstra, Pim A. de Jong, et al. "Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype." Journal of Clinical Medicine 12, no. 3 (2023): 1047. http://dx.doi.org/10.3390/jcm12031047.

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Background: Pseudoxanthoma elasticum (PXE), a monogenic disorder resulting in calcification affecting the skin, eyes and peripheral arteries, is caused by mutations in the ABCC6 gene, and is associated with low plasma inorganic pyrophosphate (PPi). It is unknown how ABCC6 genotype affects plasma PPi. Methods: We studied the association of ABCC6 genotype (192 patients with biallelic pathogenic ABCC6 mutations) and PPi levels, and its association with the severity of arterial and ophthalmological phenotypes. ABCC6 variants were classified as truncating or non-truncating, and three groups of the

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Viteri-Noël, Adrián, José Luis Patier, Nuria Bara-Ledesma, et al. "Genotype–Phenotype Relationship in Hereditary Hemorrhagic Telangiectasia: Quality of Life and Cardiovascular Risk Evaluation." Journal of Clinical Medicine 14, no. 13 (2025): 4409. https://doi.org/10.3390/jcm14134409.

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Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder caused by pathogenic variants in ENG (HHT1) and ACVRL1 (HHT2), with distinct phenotypic expressions. Background/Objectives: This study investigates the genotype–phenotype correlations, including comparing the quality of life by phenotype, conducting a cardiovascular risk assessment, and evaluating the impact of mutation type on its clinical manifestations and prognosis. Methods: A cross-sectional study was conducted on 85 HHT patients, stratified into HHT1 (ENG, n = 43) and HHT2 (ACVRL1, n = 42). Their clini

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Ludwig, T. "Tumorigenesis in mice carrying a truncating Brca1 mutation." Genes & Development 15, no. 10 (2001): 1188–93. http://dx.doi.org/10.1101/gad.879201.

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Dong, Baijun, Bin Yang, Yonghong Li, et al. "Insights into Chinese prostate cancer germline gene mutation profile: HOXB13 G84E mutation is unsuitable for genetic testing." Journal of Clinical Oncology 38, no. 15_suppl (2020): e17515-e17515. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e17515.

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e17515 Background: Philadelphia Prostate Cancer Consensus Conference 2017 developed an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA. However, the consensus was mainly based on data from Caucasian populations. Genetic differences in the PC molecular landscape between Asian and Caucasian men have been established. Whether Caucasian-based genetic information can be used to guide clinical practice in Chinese population needs further evidence. Methods: 1123 patients with confirmed prostate cancer admitted from March 2018 to August 2019 from 18 Chin

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Pimentel Muniz, Thiago, Hadas Sorotsky, Yada Kanjanapan, et al. "Genomic landscape of malignant peripheral nerve sheath tumor (MPNST)-like melanoma." Journal of Clinical Oncology 38, no. 15_suppl (2020): e22072-e22072. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e22072.

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e22072 Background: Malignant Peripheral Nerve Sheath Tumor (MPNST)-like melanoma is a rare entity wherein cutaneous melanoma mimics histomorphological features of MPNST. The genomic landscape of MPNST-like melanoma has not been previously described. We report the genomic findings of 6 patients diagnosed with MPNST-like melanoma. Methods: We identified consecutive patients with confirmed histological diagnosis of MPNST-like melanoma. Archival tissue was submitted for whole exome and transcriptome sequencing analysis and genomic findings were compared to publicly available data on the genomic la

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Sekine, Akinari, Takuya Fujimaru, Junichi Hoshino, et al. "Genotype-Clinical Correlations in Polycystic Kidney Disease with No Apparent Family History." American Journal of Nephrology 49, no. 3 (2019): 233–40. http://dx.doi.org/10.1159/000497444.

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Background: Genetic characteristics of polycystic kidney disease (PKD) patients without apparent family history were reported to be different from those with a positive family history. However, the clinical course of PKD patients with no apparent family history is not well documented in the literature. Methods: We evaluated the relationship between genotype and the clinical course of 62 PKD patients with no apparent family history. Results: The annual decline of renal function was faster in the patients with PKD1/PKD2 mutation (PKD1 truncating [–3.08; 95% CI –5.30 to –0.87, p = 0.007], PKD1 no

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Sakata, Aki, Akinori Kashio, Misaki Koyama, Shinji Urata, Hajime Koyama, and Tatsuya Yamasoba. "Hearing and Hearing Loss Progression in Patients with GJB2 Gene Mutations: A Long-Term Follow-Up." International Journal of Molecular Sciences 24, no. 23 (2023): 16763. http://dx.doi.org/10.3390/ijms242316763.

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We aimed to investigate whether the degree of hearing loss with GJB2 mutations could be predicted by distinguishing between truncating and non-truncating mutations and whether the genotype could predict the hearing loss level. Additionally, we examined the progression of hearing loss in individuals monitored for over 2 years for an average of 6.9 years. The proportion of truncating mutations was higher in patients with profound and severe hearing loss, but it was not accurate enough to predict the degree of hearing loss. Via genotype analysis, mutations of the p.Arg143Trp variants were associa

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Isailovic, Tatjana, Ivana Milicevic, Djuro Macut, et al. "Novel Mutations in Serbian MEN1 Patients: Genotype-Phenotype Correlation." Journal of Medical Biochemistry 38, no. 1 (2019): 38–44. http://dx.doi.org/10.2478/jomb-2018-0013.

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Summary Background: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer syndrome characterized by the occurrence of primary hyperparathyroidism (PHPT), pituitary adenoma (PA) and pancreatic neuroendocrine tumor (pNET). Whether the underlying mutations in MEN1 gene predict clinical presentation of affected heterozygotes or not, is still a matter of a debate. Methods: Clinical and genetic analysis of 90 consecutive MEN1 patients was performed in a retrospective, single – center study. Results: MEN1 mutation was found in 67 (74.4%) patients belonging to 31 different familie

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Cyanam, Dinesh, Adam Broomer, David Mandelman, et al. "Somatic mutation burden in cancer samples determined by targeted next generation sequencing." Journal of Clinical Oncology 35, no. 7_suppl (2017): 15. http://dx.doi.org/10.1200/jco.2017.35.7_suppl.15.

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15 Background: High somatic mutation burden in tumor tissues is associated with the presentation of neoantigens that promote immune responses particularly in the context of immune checkpoint therapies. Herein, we characterize the ability of targeted cancer research panels to generate estimates of somatic mutation burden. Methods: Somatic mutation data from > 8000 cancer samples obtained from The Cancer Genome Atlas (TCGA) was curated and standardized, and the number of single nucleotide variants (SNVs) in exonic regions of each sample determined. Next, the number of SNVs associated with tar

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Latacz, Maria, Yansu Song, Yi Hao, et al. "Recurrent ASXL1 Mutations Promote Myeloid Malignancies through Unleashed Condensation." Blood 144, Supplement 1 (2024): 42. https://doi.org/10.1182/blood-2024-204634.

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ASXL1 mutations are very frequent in all forms of myeloid malignancies, alwaysassociated with adverse prognosis, relapse, and therapy resistance (Asada et al. Cell Mol Life Sci 2019, Panuzzo et al. J Clin Med 2020). ASXL1 is an obligate co-factor for BAP1 in erasing H2AK119 ubiquitination, an epigenetic modification associated with gene repression. ASXL1 mutations are mostly truncating mutations and concentrated in a central intrinsically disordered region (IDR) of ASXL1. ASXL1 truncations are gain-of-function mutations that promote myeloid malignancies, but the underlying molecular mechanisms

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Sawal, Humaira, Ricardo Harripaul, Anna Mikhailov, et al. "Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene GPR56 in Pakistani Intellectual Disability Families." Journal of Pediatric Genetics 07, no. 02 (2017): 060–66. http://dx.doi.org/10.1055/s-0037-1612591.

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AbstractBilateral frontoparietal polymicrogyria (BFPP, MIM 606854) is a heterogeneous autosomal recessive disorder of abnormal cortical lamination, leading to moderate-to-severe intellectual disability (ID), seizure disorder, and motor difficulties, and caused by mutations in the G protein–coupled receptor 56 (GPR56) gene. Twenty-eight mutations in 40 different families have been reported in the literature. The clinical and neuroimaging phenotype is consistent in these cases. The BFPP cortex consists of numerous small gyral cells, with scalloping of the cortical–white matter junction. There ar

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Zighelboim, Israel, Amy P. Schmidt, Feng Gao, et al. "ATR Mutation in Endometrioid Endometrial Cancer Is Associated With Poor Clinical Outcomes." Journal of Clinical Oncology 27, no. 19 (2009): 3091–96. http://dx.doi.org/10.1200/jco.2008.19.9802.

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Purpose Mutations in the DNA damage response gene ATR (exon 10 A10 mononucleotide repeat) have been previously described in endometrial and other cancers with defective DNA mismatch repair. In vitro studies showed that endometrial cancer cell lines with A10 repeat tract truncating mutations have a failure in the ATR-dependent DNA damage response. Cell lines carrying A10 mutations fail to trigger Chk1 activation in response to ionizing radiation and topoisomerase inhibitors. We sought to determine the frequency and clinicopathologic significance of ATR mutations in patients with endometrioid en

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Davila, Jaime I., Jason S. Starr, Steven Attia, et al. "Comprehensive Genomic Profiling of a Rare Thyroid Follicular Dendritic Cell Sarcoma." Rare Tumors 9, no. 2 (2017): 50–53. http://dx.doi.org/10.4081/rt.2017.6834.

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We previously reported an extremely rare case of follicular dendritic cell sarcoma (FDCS) presented as a thyroid mass. Given the rarity of this disease, there are no personalized and molecularly targeted treatment options due to the lack of knowledge in the genomic makeup of the tumor. A 44-year-old white woman was diagnosed with an extranodal FDCS in thyroid. The patient underwent a total thyroidectomy, central compartment dissection, parathyroid re-implantation, and adjuvant radiation therapy. Tumor DNA sequencing of 236 genes by FoundationOne panel found truncating mutations in PTEN and mis

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El-Deiry, Wafik S., Taylor Arnoff, Benedito A. Carneiro, et al. "Genomic and immunologic profiles of concurrent RB1 and CDKN1A/p21(WAF1) truncating mutations (RW+) in bladder cancer." Journal of Clinical Oncology 40, no. 16_suppl (2022): 4571. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.4571.

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4571 Background: p53 target and cell cycle inhibitor CDKN1A/p21(WAF1) was initially not found to be mutated in cancer. TCGA analysis identified CDKN1A mutations are present but rare with frequencies of < 1%, but enrich in bladder cancer (̃8%). Truncating WAF1 mutations are associated with sensitivity to cisplatin and are associated with truncating Rb mutations in bladder cancer (RW+). We hypothesized RW+ bladder cancers may represent a unique subgroup with sensitivity to therapeutics. Methods: A total of 1104 urothelial tumors underwent molecular profiling at Caris Life Sciences (Phoenix, A

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El-Deiry, Wafik S., Taylor Arnoff, Benedito A. Carneiro, et al. "Genomic and immunologic profiles of concurrent RB1 and CDKN1A/p21(WAF1) truncating mutations (RW+) in bladder cancer." Journal of Clinical Oncology 40, no. 16_suppl (2022): 4571. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.4571.

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4571 Background: p53 target and cell cycle inhibitor CDKN1A/p21(WAF1) was initially not found to be mutated in cancer. TCGA analysis identified CDKN1A mutations are present but rare with frequencies of < 1%, but enrich in bladder cancer (̃8%). Truncating WAF1 mutations are associated with sensitivity to cisplatin and are associated with truncating Rb mutations in bladder cancer (RW+). We hypothesized RW+ bladder cancers may represent a unique subgroup with sensitivity to therapeutics. Methods: A total of 1104 urothelial tumors underwent molecular profiling at Caris Life Sciences (Phoenix, A

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Damm, Frederik, Chesnais Virginie, Laurianne Scourzic, et al. "BCOR Mutations Represent an Independent Factor of Poor Prognosis in Myelodysplastic Syndromes." Blood 120, no. 21 (2012): 1697. http://dx.doi.org/10.1182/blood.v120.21.1697.1697.

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Abstract Abstract 1697 Background Abnormal and clonal hematopoiesis resulting in peripheral blood cytopenias, and risk of progression to acute myeloid leukemia (AML) are the main characteristics of myelodysplastic syndromes (MDS) which present a high diversity of somatically mutated genes. Recently, mutations targeting genes whose products participate to the early steps of RNA splicing (SF3B1, SRSF2, ZRSR2, and U2AF35) have been reported. Mutations in ASXL1, DNMT3, EZH2, IDH1/2 and TET2, suggest deregulation of the epigenetic control of transcription. Additional genes known to be mutated in MD

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Shan, Dan, Gabriel Rezonzew, Sean Mullen, et al. "Heterozygous Pkhd1C642* mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney." American Journal of Physiology-Renal Physiology 316, no. 3 (2019): F463—F472. http://dx.doi.org/10.1152/ajprenal.00181.2018.

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Heterozygosity for human polycystic kidney and hepatic disease 1 ( PKHD1) mutations was recently associated with cystic liver disease and radiographic findings resembling medullary sponge kidney (MSK). However, the relevance of these associations has been tempered by a lack of cystic liver or renal disease in heterozygous mice carrying Pkhd1 gene trap or exon deletions. To determine whether heterozygosity for a smaller Pkhd1 defect can trigger cystic renal disease in mice, we generated and characterized mice with the predicted truncating Pkhd1C642* mutation in a region corresponding to the mid

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Novac, Monica, Lucian Pop, Viorica Radoi, et al. "K3326* mutation in breast cancer." Romanian Medical Journal 69, S3 (2022): 17–19. http://dx.doi.org/10.37897/rmj.2022.s3.5.

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After more than 25 years since its identification in 1995, the mutational faults in the BRCA2 gene is recognized and accepted as a high-penetrance predisposition gene for breast cancer. Besides a large number of pathogenic mutations, there are thousands of VUS (variants of uncertain significance) described, with many of them localized on C-terminus. K3326* is a rare truncating variant on the C-terminus of BRCA2, which is reported in the literature, including ClinVar and Varsome database, as a neutral polymorphism. However, there is some evidence that suggests an elevated risk of breast cancer

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Bunjevacki, Vera, Nela Maksimovic, Tatjana Damnjanovic, et al. "657del5 mutation of the NBS1 gene in myelodysplastic syndrome." Archives of Biological Sciences 66, no. 3 (2014): 1055–59. http://dx.doi.org/10.2298/abs1403055b.

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Myelodysplastic syndromes (MDS) are clonal hematologic stem cell disorders with an as yet unknown molecular pathology. Genetic instability has been proposed as a cause of MDS. Mutations in the NBS1 gene, whose product nibrin (p95) is involved in DNA damage repair and cell-cycle control, might be associated with an elevated predisposition to the development of MDS. The aim of the study was to examine truncating 5 bp deletion (657del5), the most frequent NBS1 gene mutation in Slavic populations, in MDS patients. Among 71 MDS patients, we found one case that was heterozygous for the NBS1 657del5

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Fang, Jianfei, Ying Yang, Lina Xie, and Wenjuan Yin. "Immunological Role of TP53 Somatic Mutation Classification in Human Cancers." Journal of Oncology 2023 (February 13, 2023): 1–15. http://dx.doi.org/10.1155/2023/1904309.

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Background. TP53 is a very common tumor suppressor gene and has implicated in various cancers. A systematic immunological analysis of TP53 somatic mutation classification in multiple cancers is still lacking. Methods. To assess the immunological value of TP53 somatic mutation classification in various cancers, we integrated a series of bioinformatics methods to analyze the role of TP53 gene across the public databases, such as UCSC Xena, Cancer Cell Line Encyclopedia (CCLE), Ensembl, and Genotype−Tissue Expression (GTEx). Results. The results revealed that the TP53 expression level had signifi

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