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Journal articles on the topic 'Mutation database'

Author: Grafiati

Published: 9 March 2023

Last updated: 31 July 2025

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1

Lee, Joon-Hyop, Jiyoung Ahn, Won Seo Park, et al. "Colorectal Cancer Prognosis is Not Associated with BRAF and KRAS Mutations-A STROBE Compliant Study." Journal of Clinical Medicine 8, no. 1 (2019): 111. http://dx.doi.org/10.3390/jcm8010111.

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Background: We investigated the associations between v-Raf murine sarcoma viral oncogene homolog B1 (BRAFV600E, henceforth BRAF) and v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS) mutations and colorectal cancer (CRC) prognosis, using The Cancer Genome Atlas (TCGA) and the Gene Expression Omnibus (GSE39582) datasets. Materials and Methods: The effects of BRAF and KRAS mutations on overall survival (OS) and disease-free survival (DFS) of CRC were evaluated. Results: The mutational status of BRAF and KRAS genes was not associated with overall survival (OS) or DFS of the CRC patients

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2

Gottlieb, Bruce, Lenore K. Beitel, and Mark A. Trifiro. "Variable expressivity and mutation databases: The androgen receptor gene mutations database." Human Mutation 17, no. 5 (2001): 382–88. http://dx.doi.org/10.1002/humu.1113.

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3

Ping, Jie, Olufunmilola Oyebamiji, Hui Yu, et al. "MutEx: a multifaceted gateway for exploring integrative pan-cancer genomic data." Briefings in Bioinformatics 21, no. 4 (2019): 1479–86. http://dx.doi.org/10.1093/bib/bbz084.

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Abstract Somatic mutation and gene expression dysregulation are considered two major tumorigenesis factors. While independent investigations of either factor pervade, studies of associations between somatic mutations and gene expression changes have been sporadic and nonsystematic. Utilizing genomic data collected from 11 315 subjects of 33 distinct cancer types, we constructed MutEx, a pan-cancer integrative genomic database. This database records the relationships among gene expression, somatic mutation and survival data for cancer patients. MutEx can be used to swiftly explore the relations

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4

Stenson, P. D., E. Ball, K. Howells, A. Phillips, M. Mort, and D. N. Cooper. "Human Gene Mutation Database: towards a comprehensive central mutation database." Journal of Medical Genetics 45, no. 2 (2007): 124–26. http://dx.doi.org/10.1136/jmg.2007.055210.

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5

Bhattacharya, Sanjoy K. "Article Commentary: Prospects for Proteomics Directed Genomic and Genetic Analyses in Disease Discoveries." Proteomics Insights 2 (January 2009): PRI.S3023. http://dx.doi.org/10.4137/pri.s3023.

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Proteomic discoveries are usually made using database searches for identification of proteins in a given protein sample derived from cells or tissues. High throughput searches leave a number of peptides not analyzed for a variety of reasons, such as posttranslational modification or a mutation that results changes in the peptide that is not present in databases. Such mutations may be critically important in causing disease conditions. Accounts from ocular diseases are presented where the search provided results often from non-conventional databases (such as structural database instead of prote

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6

Nowacki, P. "PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases." Nucleic Acids Research 26, no. 1 (1998): 220–25. http://dx.doi.org/10.1093/nar/26.1.220.

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7

Nebel, Istvan T., Barbara Trültsch, and Ralf Paschke. "TSH Receptor Mutation Database." Journal of Clinical Endocrinology & Metabolism 84, no. 6 (1999): 2263. http://dx.doi.org/10.1210/jcem.84.6.5809-9.

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8

Cooper, D. N., and Michael Krawczak. "Human Gene Mutation Database." Human Genetics 98, no. 5 (1996): 629. http://dx.doi.org/10.1007/s004390050272.

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9

Shemansky, Jennifer M., Lea Patrice McDaniel, Christopher Klimas, et al. "Pig‐agene mutation database." Environmental and Molecular Mutagenesis 60, no. 8 (2019): 759–62. http://dx.doi.org/10.1002/em.22298.

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10

Niesler, Beate, Christine Fischer, and Gudrun A. Rappold. "The humanSHOX mutation database." Human Mutation 20, no. 5 (2002): 338–41. http://dx.doi.org/10.1002/humu.10125.

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11

Beysen, Diane, Jo Vandesompele, Ludwine Messiaen, Anne De Paepe, and Elfride De Baere. "The humanFOXL2 mutation database." Human Mutation 24, no. 3 (2004): 189–93. http://dx.doi.org/10.1002/humu.20079.

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12

Wertheim-Tysarowska, Katarzyna, Agnieszka Sobczyńska-Tomaszewska, Cezary Kowalewski, et al. "The COL7A1 mutation database." Human Mutation 33, no. 2 (2011): 327–31. http://dx.doi.org/10.1002/humu.21651.

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13

Minoshima, S. "Keio Mutation Database (KMDB) for human disease gene mutations." Nucleic Acids Research 28, no. 1 (2000): 364–68. http://dx.doi.org/10.1093/nar/28.1.364.

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14

Astolfi, Annalisa, Margherita Nannini, Valentina Indio, et al. "Genomic Database Analysis of Uterine Leiomyosarcoma Mutational Profile." Cancers 12, no. 8 (2020): 2126. http://dx.doi.org/10.3390/cancers12082126.

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Uterine Leiomyosarcoma (uLMS) is by far the most common type of uterine sarcoma, characterized by an aggressive clinical course, a heterogeneous genetic profile and a very scarce response to cytotoxic chemotherapy. The genetic make-up of uLMS is an area of active study that could provide essential cues for the development of new therapeutic approaches. A total of 216 patients with uLMS from cBioPortal and AACR-GENIE databases were included in the study. The vast majority of patients (81%) carried at least one mutation in either TP53, RB1, ATRX or PTEN. The most frequently mutated gene was TP53

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15

Ratbi, Ilham, Alae-eddine Gati, and Abdelaziz Sefiani. "The moroccan human mutation database." Indian Journal of Human Genetics 14, no. 3 (2008): 106. http://dx.doi.org/10.4103/0971-6866.45004.

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16

van Durme, J. J. J. "NRMD: Nuclear Receptor Mutation Database." Nucleic Acids Research 31, no. 1 (2003): 331–33. http://dx.doi.org/10.1093/nar/gkg122.

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17

Cotton, R. G. H., and O. Horaitis. "The HUGO Mutation Database Initiative." Pharmacogenomics Journal 2, no. 1 (2002): 16–19. http://dx.doi.org/10.1038/sj.tpj.6500070.

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18

Sandgren, Andreas, Michael Strong, Preetika Muthukrishnan, Brian K. Weiner, George M. Church, and Megan B. Murray. "Tuberculosis Drug Resistance Mutation Database." PLoS Medicine 6, no. 2 (2009): e1000002. http://dx.doi.org/10.1371/journal.pmed.1000002.

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19

Cotton, R. G. H. "The HUGO Mutation Database Initiative." Science 279, no. 5347 (1998): 10c—15. http://dx.doi.org/10.1126/science.279.5347.10c.

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20

Lewis, P. D. "The Mammalian Gene Mutation Database." Mutagenesis 15, no. 5 (2000): 411–14. http://dx.doi.org/10.1093/mutage/15.5.411.

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21

Krawczak, M. "The human gene mutation database." Trends in Genetics 13, no. 3 (1997): 121–22. http://dx.doi.org/10.1016/s0168-9525(97)01068-8.

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22

TRÜLZSCH, BARBARA, TIBOR NEBEL, and RALF PASCHKE. "The Thyrotropin Receptor Mutation Database." Thyroid 9, no. 6 (1999): 521–22. http://dx.doi.org/10.1089/thy.1999.9.521.

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23

Brown, A. "The Human PAX6 Mutation Database." Nucleic Acids Research 26, no. 1 (1998): 259–64. http://dx.doi.org/10.1093/nar/26.1.259.

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24

Cooper, D. "The human gene mutation database." Nucleic Acids Research 26, no. 1 (1998): 285–87. http://dx.doi.org/10.1093/nar/26.1.285.

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25

Pecho-Silva, Samuel, and Ana C. Navarro-Solsol. "The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition." Revista Peruana de Investigación en Salud 5, no. 2 (2021): 132–35. http://dx.doi.org/10.35839/repis.5.2.1008.

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CF is an autosomal recessive disease, requiring mutations to be present in both alleles in the CF transmembrane conductance regulatory gene (CFTR). The c.3274T> C (p.Tyr1092His) mutation is not registered in the “CFTR2 project” database, but it is registered in The Human Gene Mutation Database. Neither are the two DNAAF4 c.1177C> T (p.Leu393Phe) and DNAAF5 c.1195G> A (p.Glu399Lys) mutations found in the "CFTR Project”, and their clinical consequences are currently uncertain. Here, we report the case of a Peruvian woman presenting this mutation, bronchiectasis and loss of lung function

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26

Ergoren, Mahmut Cerkez, Rameez Hassan Pirzada, Mustafa Arici, and Nedime Serakinci. "Near East University Genetic Mutation Database (NEU-GD): The first mutation database of Northern Cyprus." Gene 571, no. 1 (2015): 145–48. http://dx.doi.org/10.1016/j.gene.2015.07.035.

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27

Hyodo, Toshiki, Nobuyuki Kuribayashi, Chonji Fukumoto, et al. "Abstract 4649: Proposal of the concept of “p53 mutational spectrum”: Its clinical implication in oral squamous cell carcinoma." Cancer Research 85, no. 8_Supplement_1 (2025): 4649. https://doi.org/10.1158/1538-7445.am2025-4649.

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Abstract The p53 gene is the most frequently mutated gene in malignant tumors. We found that p53 abnormalities were observed in most cases of oral squamous cell carcinoma (OSCC). Therefore, it is necessary to search for type of the functional abnormality (complete loss of function, partial loss of function, or gain of oncogenic function) of the p53 gene rather than the presence or absence of gene mutation. Here we would like to propose the concept “p53 mutational spectrum”. In this study we performed whole-exome sequencing of p53 using clinical specimens from OSCC and attempted to clarify the

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28

ZHAO, XIN, ZUOFENG LI, and XIAOYAN ZHANG. "G6PD-MutDB: A MUTATION AND PHENOTYPE DATABASE OF GLUCOSE-6-PHOSPHATE (G6PD) DEFICIENCY." Journal of Bioinformatics and Computational Biology 08, supp01 (2010): 101–9. http://dx.doi.org/10.1142/s021972001000518x.

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzymatic disorder of red blood cells in humans due to mutations in the G6PD gene. The G6PD enzyme catalyzes the first step in the pentose phosphate pathway to protect cells against oxidative stress. Mutations in the G6PD gene will cause functional variants with various biochemical and clinical phenotypes. So far, about 160 mutations along with more than 400 biochemical variants have been described. G6PD-MutDB is a disease-specific resource of G6PD deficiency, collecting and integrating G6PD mutations with bioche

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29

Wang, Yan, Fei Ran, Jin Lin, Jing Zhang, and Dan Ma. "Genetic and Clinical Characteristics of Patients with Philadelphia-Negative Myeloproliferative Neoplasm Carrying Concurrent Mutations in JAK2V617F, CALR, and MPL." Technology in Cancer Research & Treatment 22 (January 2023): 153303382311540. http://dx.doi.org/10.1177/15330338231154092.

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Simultaneous mutations in Janus kinase 2 ( JAK2), calreticulin , and myeloproliferative leukemia (MPL) genes are generally not considered for characterizing Philadelphia-negative myeloproliferative neoplasms (MPNs), leading to misdiagnosis. Sanger sequencing and quantitative polymerase chain reaction were used to detect gene mutations in patients with MPN. We retrospectively screened the data of patients with double mutations in our center and from the PubMed database. Two patients tested positive for both JAK2V617F and CALR mutations (2/352 0.57%) in our center, while data of 35 patients from

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30

Wei, Ming-Hui, Patrick W. Blake, Julia Shevchenko, and Jorge R. Toro. "The folliculin mutation database: An online database of mutations associated with Birt-Hogg-DubÃ© syndrome." Human Mutation 30, no. 9 (2009): E880—E890. http://dx.doi.org/10.1002/humu.21075.

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31

Paalman, Mark H. "Ourania Horaitis: LinkingHuman Mutation and the HUGO-Mutation Database Initiative." Human Mutation 17, no. 1 (2000): 1–2. http://dx.doi.org/10.1002/1098-1004(2001)17:1<1::aid-humu1>3.0.co;2-#.

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32

Hart, Lowell L., Kai Treuner, Li Ma, Jenna Wong, Catherine A. Schnabel, and James Andrew Reeves. "Integration of molecular cancer classification and next-generation sequencing to identify metastatic patients eligible for PARP inhibitors." Journal of Clinical Oncology 39, no. 15_suppl (2021): e15080-e15080. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.e15080.

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e15080 Background: Olaparib, rucaparib, and niraparib are 3 poly-ADP-ribose polymerase inhibitors (PARPi) approved by the FDA for ovarian, breast, pancreatic, prostate, fallopian tube and peritoneal cancers with BRCA mutations. Several ongoing clinical trials aim to determine the efficacy of PARPi in various other cancer types, including specific cancer subtypes, such as clear cell renal cell carcinoma and cholangiocarcinoma either as monotherapy or combination therapy; however, eligibility for PARPi therapy requires the identification of the primary tumor type and confirmation of BRCA mutatio

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33

Lane, D. A., T. Bayston, R. J. Olds, et al. "Antithrombin Mutation Database: 2nd (1997) Update." Thrombosis and Haemostasis 77, no. 01 (1997): 197–211. http://dx.doi.org/10.1055/s-0038-1655930.

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34

Lane, D. A., R. J. Olds, M. Boisclair, et al. "Antithrombin III Mutation Database: First Update." Thrombosis and Haemostasis 70, no. 02 (1993): 361–69. http://dx.doi.org/10.1055/s-0038-1649581.

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35

Beroud, C. "p53 gene mutation: software and database." Nucleic Acids Research 24, no. 1 (1996): 147–50. http://dx.doi.org/10.1093/nar/24.1.147.

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36

Beroud, C. "p53 gene mutation: software and database." Nucleic Acids Research 26, no. 1 (1998): 200–204. http://dx.doi.org/10.1093/nar/26.1.200.

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37

Dalgleish, R. "The Human Collagen Mutation Database 1998." Nucleic Acids Research 26, no. 1 (1998): 253–55. http://dx.doi.org/10.1093/nar/26.1.253.

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38

Pan, C., J. Kim, L. Chen, Q. Wang, and C. Lee. "The HIV positive selection mutation database." Nucleic Acids Research 35, Database (2007): D371—D375. http://dx.doi.org/10.1093/nar/gkl855.

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39

Uitto, Jouni. "Epidermolysis Bullosa: The Expanding Mutation Database." Journal of Investigative Dermatology 123, no. 4 (2004): xii—xiii. http://dx.doi.org/10.1111/j.0022-202x.2004.23333.x.

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40

Stephenson, Alexandra, Lorraine Lau, Markus Eszlinger, and Ralf Paschke. "The Thyrotropin Receptor Mutation Database Update." Thyroid 30, no. 6 (2020): 931–35. http://dx.doi.org/10.1089/thy.2019.0807.

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41

Heinritz, Wolfram, Lin Shou, Andre Moschik, and Ursula G. Froster. "The human TBX5 gene mutation database." Human Mutation 26, no. 4 (2005): 397. http://dx.doi.org/10.1002/humu.9375.

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42

Hernandez, Diana, Sarah Addou, David Lee, Christine Orengo, Elizabeth A. Shephard, and Ian R. Phillips. "Trimethylaminuria and a humanFMO3 mutation database." Human Mutation 22, no. 3 (2003): 209–13. http://dx.doi.org/10.1002/humu.10252.

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43

Béroud, Christophe, Dalil Hamroun, Gwenaëlle Collod-Béroud, Catherine Boileau, Thierry Soussi, and Mireille Claustres. "UMD (Universal Mutation Database): 2005 update." Human Mutation 26, no. 3 (2005): 184–91. http://dx.doi.org/10.1002/humu.20210.

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44

Ruangrit, Uttapong, Metawee Srikummool, Anunchai Assawamakin, et al. "Thailand mutation and variation database (ThaiMUT)." Human Mutation 29, no. 8 (2008): E68—E75. http://dx.doi.org/10.1002/humu.20787.

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45

Auerbach, Arleen D., and Richard G. H. Cotton. "Mutation Database Meeting, 27th March 1998." Human Mutation 12, no. 6 (1998): 367–69. http://dx.doi.org/10.1002/(sici)1098-1004(1998)12:6<367::aid-humu1>3.0.co;2-r.

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46

Zhou, Chixiang, and Phyllis Frankl. "JDAMA: Java database application mutation analyser." Software Testing, Verification and Reliability 21, no. 3 (2011): 241–63. http://dx.doi.org/10.1002/stvr.462.

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47

Wu, Ying, Jun Wang, Lina Ge, and Qing Hu. "Significance of a PTEN Mutational Status-Associated Gene Signature in the Progression and Prognosis of Endometrial Carcinoma." Oxidative Medicine and Cellular Longevity 2022 (February 23, 2022): 1–13. http://dx.doi.org/10.1155/2022/5130648.

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Background. PTEN mutations have been reported to be involved in the development and prognosis of endometrial carcinoma (EC). However, a prognostic gene signature associated with PTEN mutational status has not yet been developed. In this study, we generated a PTEN mutation-associated prognostic gene signature for EC. Methods. We obtained the single-nucleotide variation and transcriptomic profiling data from The Cancer Genome Atlas database as training data and implemented the least absolute shrinkage and selection operator (LASSO) Cox regression algorithm to establish a PTEN mutation-associated

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48

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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49

Lu, Hsueh-Ju, Ming-Fang Wu, and Sung-Fa Yang. "Prognostic impact of caspase-8 mutation in oral cavity squamous cell carcinoma: A real-world cohort study." Journal of Clinical Oncology 42, no. 16_suppl (2024): e18029-e18029. http://dx.doi.org/10.1200/jco.2024.42.16_suppl.e18029.

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e18029 Background: Identifying the drive genes and inhibiting its significant signals were persistently the main concept in cancer treatment. However, for oral cavity squamous cell carcinoma (OCSCC), the most influential genes for overall survival (OS) remain unclear. Methods: A total of 120 OCSCC patients, with corresponding pathologic specimens at initial diagnosis, were collected in Taiwan. After excluding eligible patients, 95 patients were enrolled for analysis. Whole-exome sequencing was done and the prognostic impact of each gene was analyzed. The Cancer Genome Atlas (TCGA) database was

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50

Peltomäki, Päivi, and Hans Vasen. "Mutations Associated with HNPCC Predisposition — Update of ICG-HNPCC/INSiGHT Mutation Database." Disease Markers 20, no. 4-5 (2004): 269–76. http://dx.doi.org/10.1155/2004/305058.

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In 1994, the International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer (ICG-HNPCC) established an international database of mutations identified in families with Lynch (HNPCC) syndrome. The data are publicly available at http://www.nfdht.nl. The information stored in the database was systematically analyzed in 1997, and at that time, 126 different predisposing mutations were reported affecting the DNA mismatch repair genes MSH2 and MLH1 and occurring in 202 families. In 2003, the ICG-HNPCC and the Leeds Castle Polyposis Group (LCPG) merged into a new group, INSiGHT (Intern

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