دورية أكاديمية
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
العنوان: | Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency. |
---|---|
المؤلفون: | Sehested A; Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Meade J; Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Scheie D; Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Østrup O; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Bertelsen B; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Misiakou MA; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Sarosiek T; Department of Oncology, Luxmed Onkologia, Warsaw, Poland., Kessler E; Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Melchior LC; Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Munch-Petersen HF; Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Pai RK; Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA., Schmuth M; Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck, Innsbruck, Austria., Gottschling H; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Zschocke J; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Gallon R; Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Wimmer K; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. |
المصدر: | Human mutation [Hum Mutat] 2022 Jan; Vol. 43 (1), pp. 85-96. Date of Electronic Publication: 2021 Dec 02. |
نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
اللغة: | English |
بيانات الدورية: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: New York : Wiley-Liss, c1992- |
مواضيع طبية MeSH: | Brain Neoplasms*/genetics , Colorectal Neoplasms*/genetics , Neoplastic Syndromes, Hereditary*/diagnosis , Neoplastic Syndromes, Hereditary*/genetics, Adult ; DNA Mismatch Repair/genetics ; Humans ; Mutation ; Phenotype |
مستخلص: | Heterozygous POLE or POLD1 germline pathogenic variants (PVs) cause polymerase proofreading associated polyposis (PPAP), a constitutional polymerase proofreading deficiency that typically presents with colorectal adenomas and carcinomas in adulthood. Constitutional mismatch-repair deficiency (CMMRD), caused by germline bi-allelic PVs affecting one of four MMR genes, results in a high propensity for the hematological, brain, intestinal tract, and other malignancies in childhood. Nonmalignant clinical features, such as skin pigmentation alterations, are found in nearly all CMMRD patients and are important diagnostic markers. Here, we excluded CMMRD in three cancer patients with highly suspect clinical phenotypes but identified in each a constitutional heterozygous POLE PV. These, and two additional POLE PVs identified in published CMMRD-like patients, have not previously been reported as germline PVs despite all being well-known somatic mutations in hyper-mutated tumors. Together, these five cases show that specific POLE PVs may have a stronger "mutator" effect than known PPAP-associated POLE PVs and may cause a CMMRD-like phenotype distinct from PPAP. The common underlying mechanism, that is, a constitutional replication error repair defect, and a similar tumor spectrum provide a good rationale for monitoring these patients with a severe constitutional polymerase proofreading deficiency according to protocols proposed for CMMRD. (© 2021 The Authors. Human Mutation published by Wiley Periodicals LLC.) |
References: | Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., Islam, S., Lopez-Bigas, N., Klimczak, L. J., McPherson, J. R., Morganella, S., Sabarinathan, R., Wheeler, D. A., Mustonen, V., PCAWG Mutational Signatures Working, G., … PCAWG, C. (2020). The repertoire of mutational signatures in human cancer. Nature, 578(7793), 94-101. https://doi.org/10.1038/s41586-020-1943-3. Alexandrov, L. B., Nik-Zainal, S., Wedge, D. C., Aparicio, S. A., Behjati, S., Biankin, A. V., Bignell, G. R., Bolli, N., Borg, A., Børresen-Dale, A. L., Boyault, S., Burkhardt, B., Butler, A. P., Caldas, C., Davies, H. R., Desmedt, C., Eils, R., Eyfjörd, J. E., Foekens, J. A., … Stratton, M. R. (2013). Signatures of mutational processes in human cancer. Nature, 500(7463), 415-421. https://doi.org/10.1038/nature12477. Barbari, S. R., Kane, D. P., Moore, E. A., & Shcherbakova, P. V. (2018). Functional analysis of cancer-associated DNA polymerase ε variants in Saccharomyces cerevisiae. G3 (Bethesda), 8(3), 1019-1029. https://doi.org/10.1534/g3.118.200042. Barbari, S. R., & Shcherbakova, P. V. (2017). Replicative DNA polymerase defects in human cancers: Consequences, mechanisms, and implications for therapy. DNA Repair (Amst), 56, 16-25. https://doi.org/10.1016/j.dnarep.2017.06.003. Blokzijl, F., Janssen, R., van Boxtel, R., & Cuppen, E. (2018). MutationalPatterns: Comprehensive genome-wide analysis of mutational processes. Genome Medicine, 10(1), 33. https://doi.org/10.1186/s13073-018-0539-0. Bouffet, E., Larouche, V., Campbell, B. B., Merico, D., de Borja, R., Aronson, M., Durno, C., Krueger, J., Cabric, V., Ramaswamy, V., Zhukova, N., Mason, G., Farah, R., Afzal, S., Yalon, M., Rechavi, G., Magimairajan, V., Walsh, M. F., Constantini, S., … Tabori, U. (2016). Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency. Journal of Clinical Oncology, 34(19), 2206-2211. https://doi.org/10.1200/JCO.2016.66.6552. Briggs, S., & Tomlinson, I. (2013). Germline and somatic polymerase epsilon and delta mutations define a new class of hypermutated colorectal and endometrial cancers. Journal of Pathology, 230(2), 148-153. https://doi.org/10.1002/path.4185. Burgers, P. M. J., & Kunkel, T. A. (2017). Eukaryotic DNA replication fork. Annual Review of Biochemistry, 86, 417-438. https://doi.org/10.1146/annurev-biochem-061516-044709. Campbell, B. B., Light, N., Fabrizio, D., Zatzman, M., Fuligni, F., de Borja, R., Davidson, S., Edwards, M., Elvin, J. A., Hodel, K. P., Zahurancik, W. J., Suo, Z., Lipman, T., Wimmer, K., Kratz, C. P., Bowers, D. C., Laetsch, T. W., Dunn, G. P., Johanns, T. M., … Shlien, A. (2017). Comprehensive analysis of hypermutation in human cancer. Cell, 171(5), 1042-1056 e1010. https://doi.org/10.1016/j.cell.2017.09.048. Cancer Genome Atlas Research Network, Kandoth, C., Schultz, N., Cherniack, A. D., Akbani, R., Liu, Y., Shen, H., Robertson, A. G., Pashtan, I., Shen, R., Benz, C. C., Yau, C., Laird, P. W., Ding, L., Zhang, W., Mills, G. B., Kucherlapati, R., Mardis, E. R., & Levine, D. A. (2013). Integrated genomic characterization of endometrial carcinoma. Nature, 497(7447), 67-73. https://doi.org/10.1038/nature12113. Church, D. N., Briggs, S. E., Palles, C., Domingo, E., Kearsey, S. J., Grimes, J. M., Gorman, M., Martin, L., Howarth, K. M., Hodgson, S. V., NSECG, C., Kaur, K., Taylor, J., & Tomlinson, I. P. (2013). DNA polymerase epsilon and delta exonuclease domain mutations in endometrial cancer. Human Molecular Genetics, 22(14), 2820-2828. https://doi.org/10.1093/hmg/ddt131. Church, D. N., Stelloo, E., Nout, R. A., Valtcheva, N., Depreeuw, J., ter Haar, N., Noske, A., Amant, F., Tomlinson, I. P., Wild, P. J., Lambrechts, D., Jürgenliemk-Schulz, I. M., Jobsen, J. J., Smit, V. T., Creutzberg, C. L., & Bosse, T. (2015). Prognostic significance of POLE proofreading mutations in endometrial cancer. Journal of the National Cancer Institute, 107(1), 402. https://doi.org/10.1093/jnci/dju402. Durno, C., Boland, C. R., Cohen, S., Dominitz, J. A., Giardiello, F. M., Johnson, D. A., Kaltenbach, T., Levin, T. R., Lieberman, D., Robertson, D. J., & Rex, D. K. (2017). Recommendations on surveillance and management of biallelic mismatch repair deficiency (BMMRD) syndrome: A consensus statement by the US multi-society task force on colorectal cancer. Gastroenterology, 152(6), 1605-1614. https://doi.org/10.1053/j.gastro.2017.02.011. Erson-Omay, E. Z., Çağlayan, A. O., Schultz, N., Weinhold, N., Omay, S. B., Özduman, K., Köksal, Y., Li, J., Serin Harmancı, A., Clark, V., Carrión-Grant, G., Baranoski, J., Çağlar, C., Barak, T., Coşkun, S., Baran, B., Köse, D., Sun, J., Bakırcıoğlu, M., … Günel, M. (2015). Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis. Neuro-oncology, 17(10), 1356-1364. https://doi.org/10.1093/neuonc/nov027. Galati, M. A., Hodel, K. P., Gams, M. S., Sudhaman, S., Bridge, T., Zahurancik, W. J., Ungerleider, N. A., Park, V. S., Ercan, A. B., Joksimovic, L., Siddiqui, I., Siddaway, R., Edwards, M., de Borja, R., Elshaer, D., Chung, J., Forster, V. J., Nunes, N. M., Aronson, M., … Tabori, U. (2020). Cancers from novel pole-mutant mouse models provide insights into polymerase-mediated hypermutagenesis and immune checkpoint blockade. Cancer Research, 80(24), 5606-5618. https://doi.org/10.1158/0008-5472.CAN-20-0624. Gallon, R., Mühlegger, B., Wenzel, S. S., Sheth, H., Hayes, C., Aretz, S., Dahan, K., Foulkes, W., Kratz, C. P., Ripperger, T., Azizi, A. A., Baris Feldman, H., Chong, A. L., Demirsoy, U., Florkin, B., Imschweiler, T., Januszkiewicz-Lewandowska, D., Lobitz, S., Nathrath, M., … Wimmer, K. (2019). A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes. Human Mutation, 40(5), 649-655. https://doi.org/10.1002/humu.23721. Ganai, R. A., & Johansson, E. (2016). DNA replication-A matter of fidelity. Molecular Cell, 62(5), 745-755. https://doi.org/10.1016/j.molcel.2016.05.003. Gröbner, S. N., Worst, B. C., Weischenfeldt, J., Buchhalter, I., Kleinheinz, K., Rudneva, V. A., Johann, P. D., Balasubramanian, G. P., Segura-Wang, M., Brabetz, S., Bender, S., Hutter, B., Sturm, D., Pfaff, E., Hübschmann, D., Zipprich, G., Heinold, M., Eils, J., Lawerenz, C., … Pfister, S. M. (2018). The landscape of genomic alterations across childhood cancers. Nature, 555(7696), 321-327. https://doi.org/10.1038/nature25480. Hamzaoui, N., Alarcon, F., Leulliot, N., Guimbaud, R., Buecher, B., Colas, C., Corsini, C., Nuel, G., Terris, B., Laurent-Puig, P., Chaussade, S., Dhooge, M., Madru, C., & Clauser, E. (2020). Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction. Genetics in Medicine, 22(9), 1533-1541. https://doi.org/10.1038/s41436-020-0828-z. Haradhvala, N. J., Kim, J., Maruvka, Y. E., Polak, P., Rosebrock, D., Livitz, D., Hess, J. M., Leshchiner, I., Kamburov, A., Mouw, K. W., Lawrence, M. S., & Getz, G. (2018). Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair. Nature Communications, 9(1), 1746. https://doi.org/10.1038/s41467-018-04002-4. Hodel, K. P., de Borja, R., Henninger, E. E., Campbell, B. B., Ungerleider, N., Light, N., Wu, T., LeCompte, K. G., Goksenin, A. Y., Bunnell, B. A., Tabori, U., Shlien, A., & Pursell, Z. F. (2018). Explosive mutation accumulation triggered by heterozygous human Pol epsilon proofreading-deficiency is driven by suppression of mismatch repair. eLife, 7. https://doi.org/10.7554/eLife.32692. Hodel, K. P., Sun, M., Ungerleider, N., Park, V. S., Williams, L. G., Bauer, D. L., Immethun, V. E., Wang, J., Suo, Z., Lu, H., McLachlan, J. B., & Pursell, Z. F. (2020). POLE mutation spectra are shaped by the mutant allele identity, its abundance, and mismatch repair status. Molecular Cell, 78(6), 1166-1177 e1166. https://doi.org/10.1016/j.molcel.2020.05.012. Ingham, D., Diggle, C. P., Berry, I., Bristow, C. A., Hayward, B. E., Rahman, N., Markham, A. F., Sheridan, E. G., Bonthron, D. T., & Carr, I. M. (2013). Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome. Human Mutation, 34(6), 847-852. https://doi.org/10.1002/humu.22311. Jiricny, J. (2006). The multifaceted mismatch-repair system. Nature Reviews Molecular Cell Biology, 7(5), 335-346. Johnson, A., Severson, E., Gay, L., Vergilio, J. A., Elvin, J., Suh, J., Daniel, S., Covert, M., Frampton, G. M., Hsu, S., Lesser, G. J., Stogner-Underwood, K., Mott, R. T., Rush, S. Z., Stanke, J. J., Dahiya, S., Sun, J., Reddy, P., Chalmers, Z. R., … Ramkissoon, S. H. (2017). Comprehensive genomic profiling of 282 pediatric low- and high-grade gliomas reveals genomic drivers, tumor mutational burden, and hypermutation signatures. Oncologist, 22(12), 1478-1490. https://doi.org/10.1634/theoncologist.2017-0242. León-Castillo, A., Britton, H., McConechy, M. K., McAlpine, J. N., Nout, R., Kommoss, S., Brucker, S. Y., Carlson, J. W., Epstein, E., Rau, T. T., Bosse, T., Church, D. N., & Gilks, C. B. (2020). Interpretation of somatic POLE mutations in endometrial carcinoma. Journal of Pathology, 250(3), 323-335. https://doi.org/10.1002/path.5372. Li, H., & Durbin, R. (2009). Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics, 25(14), 1754-1760. https://doi.org/10.1093/bioinformatics/btp324. Lindsay, H., Scollon, S., Reuther, J., Voicu, H., Rednam, S. P., Lin, F. Y., Fisher, K. E., Chintagumpala, M., Adesina, A. M., Parsons, D. W., Plon, S. E., & Roy, A. (2019). Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency. Cold Spring Harbor Molecular Case Studies, 5(5). https://doi.org/10.1101/mcs.a004499. McLaren, W., Gil, L., Hunt, S. E., Riat, H. S., Ritchie, G. R., Thormann, A., Flicek, P., & Cunningham, F. (2016). The Ensembl variant effect predictor. Genome Biology, 17(1), 122. https://doi.org/10.1186/s13059-016-0974-4. Morgenstern, D. A., Sudhaman, S., Das, A., Coblentz, A., Chung, J., Stone, S., … Tabori, U. (2021). Mutation and microsatellite burden predict response to PD-1 inhibition 1 in children with germline DNA replication repair deficiency. Research Square, 1-40. https://doi.org/10.21203/rs.3.rs-155292/v1. Mur, P., García-Mulero, S., Del Valle, J., Magraner-Pardo, L., Vidal, A., Pineda, M., Cinnirella, G., Martín-Ramos, E., Pons, T., López-Doriga, A., Belhadj, S., Feliubadaló, L., Munoz-Torres, P. M., Navarro, M., Grau, E., Darder, E., Llort, G., Sanz, J., Ramón Y Cajal, T., … Valle, L. (2020). Role of POLE and POLD1 in familial cancer. Genetics in Medicine, 22(12), 2089-2100. https://doi.org/10.1038/s41436-020-0922-2. Palles, C., Cazier, J. B., Howarth, K. M., Domingo, E., Jones, A. M., Broderick, P., Kemp, Z., Spain, S. L., Guarino, E., Salguero, I., Sherborne, A., Chubb, D., Carvajal-Carmona, L. G., Ma, Y., Kaur, K., Dobbins, S., Barclay, E., Gorman, M., Martin, L., … Tomlinson, I. (2013). Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nature Genetics, 45(2), 136-144. https://doi.org/10.1038/ng.2503. Perez-Valencia, J. A., Gallon, R., Chen, Y., Koch, J., Keller, M., Oberhuber, K., Gomes, A., Zschocke, J., Burn, J., Jackson, M. S., Santibanez-Koref, M., Messiaen, L., & Wimmer, K. (2020). Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1. Genetics in Medicine, 22(12), 2081-2088. https://doi.org/10.1038/s41436-020-0925-z. Rayner, E., van Gool, I. C., Palles, C., Kearsey, S. E., Bosse, T., Tomlinson, I., & Church, D. N. (2016). A panoply of errors: Polymerase proofreading domain mutations in cancer. Nature Reviews Cancer, 16(2), 71-81. https://doi.org/10.1038/nrc.2015.12. Rosner, G., Gluck, N., Carmi, S., Bercovich, D., Fliss-Issakov, N., Ben-Yehoyada, M., Aharon-Caspi, S., Kellerman, E., Strul, H., Shibolet, O., & Kariv, R. (2018). POLD1 and POLE gene mutations in jewish cohorts of early-onset colorectal cancer and of multiple colorectal adenomas. Diseases of the Colon and Rectum, 61(9), 1073-1079. https://doi.org/10.1097/DCR.0000000000001150. Ryan, N. A. J., Glaire, M. A., Blake, D., Cabrera-Dandy, M., Evans, D. G., & Crosbie, E. J. (2019). The proportion of endometrial cancers associated with Lynch syndrome: A systematic review of the literature and meta-analysis. Genetics in Medicine, 21(10), 2167-2180. https://doi.org/10.1038/s41436-019-0536-8. Shickh, S., Gutierrez Salazar, M., Zakoor, K. R., Lázaro, C., Gu, J., Goltz, J., Kleinman, D., Noor, A., Khalouei, S., Mighton, C., Reble, E., Kodida, R., Bombard, Y., DiTroia, S., Baxter, S., Watkins, N., Care, M., Adler, A., Horsburgh, S., … Lerner-Ellis, J. (2021). Exome and genome sequencing in adults with undiagnosed disease: A prospective cohort study. Journal of Medical Genetics, 58(4), 275-283. https://doi.org/10.1136/jmedgenet-2020-106936. Shinbrot, E., Henninger, E. E., Weinhold, N., Covington, K. R., Göksenin, A. Y., Schultz, N., Chao, H., Doddapaneni, H., Muzny, D. M., Gibbs, R. A., Sander, C., Pursell, Z. F., & Wheeler, D. A. (2014). Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication. Genome Research, 24(11), 1740-1750. https://doi.org/10.1101/gr.174789.114. Shiran, S. I., Ben-Sira, L., Elhasid, R., Roth, J., Tabori, U., Yalon, M., Constantini, S., & Dvir, R. (2018). Multiple brain developmental venous anomalies as a marker for constitutional mismatch repair deficiency syndrome. American Journal of Neuroradiology, 39(10), 1943-1946. https://doi.org/10.3174/ajnr.A5766. Shlien, A., Campbell, B. B., de Borja, R., Alexandrov, L. B., Merico, D., Wedge, D., Van Loo, P., Tarpey, P. S., Coupland, P., Behjati, S., Pollett, A., Lipman, T., Heidari, A., Deshmukh, S., Avitzur, N., Meier, B., Gerstung, M., Hong, Y., Merino, D. M., … Biallelic Mismatch Repair Deficiency Consortium. (2015). Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers. Nature Genetics, 47(3), 257-262. https://doi.org/10.1038/ng.3202. Shuen, A. Y., Lanni, S., Panigrahi, G. B., Edwards, M., Yu, L., Campbell, B. B., Mandel, A., Zhang, C., Zhukova, N., Alharbi, M., Bernstein, M., Bowers, D. C., Carroll, S., Cole, K. A., Constantini, S., Crooks, B., Dvir, R., Farah, R., Hijiya, N., … Pearson, C. E. (2019). Functional repair assay for the diagnosis of constitutional mismatch repair deficiency from non-neoplastic tissue. Journal of Clinical Oncology, 37(6), 461-470. https://doi.org/10.1200/JCO.18.00474. Spier, I., Holzapfel, S., Altmüller, J., Zhao, B., Horpaopan, S., Vogt, S., Chen, S., Morak, M., Raeder, S., Kayser, K., Stienen, D., Adam, R., Nürnberg, P., Plotz, G., Holinski-Feder, E., Lifton, R. P., Thiele, H., Hoffmann, P., Steinke, V., & Aretz, S. (2015). Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. International Journal of Cancer, 137(2), 320-331. https://doi.org/10.1002/ijc.29396. Tabori, U., Hansford, J. R., Achatz, M. I., Kratz, C. P., Plon, S. E., Frebourg, T., & Brugieres, L. (2017). Clinical management and tumor surveillance recommendations of inherited mismatch repair deficiency in childhood. Clinical Cancer Research, 23(11), e32-e37. https://doi.org/10.1158/1078-0432.CCR-17-0574. Tan, A., Abecasis, G. R., & Kang, H. M. (2015). Unified representation of genetic variants. Bioinformatics, 31(13), 2202-2204. https://doi.org/10.1093/bioinformatics/btv112. Van der Auwera, G. A., & O'Connor, B. D. (2020). Genomics in the cloud: Using docker, GATK, and WDL in Terra. O'Reilly Media. Vande Perre, P., Siegfried, A., Corsini, C., Bonnet, D., Toulas, C., Hamzaoui, N., Selves, J., Chipoulet, E., Hoffmann, J. S., Uro-Coste, E., & Guimbaud, R. (2019). Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma. Familial Cancer, 18(2), 173-178. https://doi.org/10.1007/s10689-018-0102-6. Vasen, H. F., Ghorbanoghli, Z., Bourdeaut, F., Cabaret, O., Caron, O., Duval, A., Entz-Werle, N., Goldberg, Y., Ilencikova, D., Kratz, C. P., Lavoine, N., Loeffen, J., Menko, F. H., Muleris, M., Sebille, G., Colas, C., Burkhardt, B., Brugieres, L., Wimmer, K., & EU-Consortium Care for CMMR-D (2014). Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D). Journal of Medical Genetics, 51(5), 283-293. https://doi.org/10.1136/jmedgenet-2013-102238. Vilar, E., & Gruber, S. B. (2010). Microsatellite instability in colorectal cancer-the stable evidence. Nature Reviews Clinical Oncology, 7(3), 153-162. https://doi.org/10.1038/nrclinonc.2009.237. Wimmer, K., Beilken, A., Nustede, R., Ripperger, T., Lamottke, B., Ure, B., Steinmann, D., Reineke-Plaass, T., Lehmann, U., Zschocke, J., Valle, L., Fauth, C., & Kratz, C. P. (2017). A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency. Familial Cancer, 16(1), 67-71. https://doi.org/10.1007/s10689-016-9925-1. Wimmer, K., Kratz, C. P., Vasen, H. F., Caron, O., Colas, C., Entz-Werle, N., Gerdes, A. M., Goldberg, Y., Ilencikova, D., Muleris, M., Duval, A., Lavoine, N., Ruiz-Ponte, C., Slavc, I., Burkhardt, B., Brugieres, L., & EU-Consortium Care for CMMRD. (2014). Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). Journal of Medical Genetics, 51(6), 355-365. https://doi.org/10.1136/jmedgenet-2014-102284. Wimmer, K., Rosenbaum, T., & Messiaen, L. (2017). Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1. Clinical Genetics, 91(4), 507-519. https://doi.org/10.1111/cge.12904. Xing, X., Kane, D. P., Bulock, C. R., Moore, E. A., Sharma, S., Chabes, A., & Shcherbakova, P. V. (2019). A recurrent cancer-associated substitution in DNA polymerase epsilon produces a hyperactive enzyme. Nature Communications, 10(1), 374. https://doi.org/10.1038/s41467-018-08145-2. Zou, Y., Liu, F. Y., Liu, H., Wang, F., Li, W., Huang, M. Z., Huang, Y., Yuan, X. Q., Xu, X. Y., Huang, O. P., & He, M. (2014). Frequent POLE1 p.S297F mutation in Chinese patients with ovarian endometrioid carcinoma. Mutation Research/DNA Repair, 761, 49-52. https://doi.org/10.1016/j.mrfmmm.2014.01.003. |
معلومات مُعتمدة: | 24991 United Kingdom CRUK_ Cancer Research UK; KLI 734 Austria FWF_ Austrian Science Fund FWF; C569/A24991 United Kingdom CRUK_ Cancer Research UK |
فهرسة مساهمة: | Keywords: POLE; café au lait macules; childhood cancer; constitutional mismatch repair deficiency; driver mutation; medulloblastoma; mismatch repair; polymerase proofreading; polymerase proofreading associated polyposis; tumor mutational burden |
SCR Disease Name: | Turcot syndrome |
تواريخ الأحداث: | Date Created: 20211124 Date Completed: 20220331 Latest Revision: 20240210 |
رمز التحديث: | 20240210 |
DOI: | 10.1002/humu.24299 |
PMID: | 34816535 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1098-1004 |
---|---|
DOI: | 10.1002/humu.24299 |