Genetic control of tumor development in malformation syndromes.
CNVs
cancer
epigenetics
genetic compensation
mosaicism
tumor predisposition syndrome
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
received:
02
06
2020
revised:
19
10
2020
accepted:
19
10
2020
pubmed:
4
11
2020
medline:
8
7
2021
entrez:
3
11
2020
Statut:
ppublish
Résumé
One of the questions that arises frequently when caring for an individual with a malformation syndrome, is whether some form of tumor surveillance is indicated. In some syndromes there is a highly variable increased risk to develop tumors, while in others this is not the case. The risks can be hard to predict and difficult to explain to affected individuals and their families, and often also to caregivers. The queries arise especially if syndrome causing mutations are also known to occur in tumors. It needs insight in the mechanisms to understand and explain differences of tumor occurrence, and to offer optimal care to individuals with syndromes. Here we provide a short overview of the major mechanisms of the control for tumor occurrences in malformation syndromes.
Identifiants
pubmed: 33141500
doi: 10.1002/ajmg.a.61947
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
324-335Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
Agren, M., Kogerman, P., Kleman, M. I., Wessling, M., & Toftgard, R. (2004). Expression of the PTCH1 tumor suppressor gene is regulated by alternative promoters and a single functional Gli-binding site. Gene, 330, 101-114. https://doi.org/10.1016/j.gene.2004.01.010
Alders, M., Al-Gazali, L., Cordeiro, I., Dallapiccola, B., Garavelli, L., Tuysuz, B., … Hennekam, R. C. (2014). Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Human Genetics, 133(9), 1161-1167. https://doi.org/10.1007/s00439-014-1456-y
Antonarakis, S. E., Skotko, B. G., Rafii, M. S., Strydom, A., Pape, S. E., … Reeves, R. H. (2020). Down syndrome. Nature Reviews. Disease Primers, 6(1), 9. https://doi.org/10.1038/s41572-019-0143-7
Bao-Caamano, A., Rodriguez-Casanova, A., & Diaz-Lagares, A. (2020). Epigenetics of circulating tumor cells in breast cancer. Advances in Experimental Medicine and Biology, 1220, 117-134. https://doi.org/10.1007/978-3-030-35805-1_8
Bates, S. E. (2020). Epigenetic therapies for cancer. The New England Journal of Medicine, 383(7), 650-663. https://doi.org/10.1056/NEJMra1805035
Berger, S. L., Kouzarides, T., Shiekhattar, R., & Shilatifard, A. (2009). An operational definition of epigenetics. Genes & Development, 23(7), 781-783.
Boot, M. V., van Belzen, M. J., Overbeek, L. I., Hijmering, N., Mendeville, M., Waisfisz, Q., … de Jong D. (2018). Benign and malignant tumors in Rubinstein-Taybi syndrome. American Journal of Medical Genetics. Part A, 176(3), 597-608. https://doi.org/10.1002/ajmg.a.38603
Boutet, N., Bignon, Y. J., Drouin-Garraud, V., Sarda, P., Longy, M., Lacombe, D., & Gorry, P. (2003). Spectrum of PTCH1 mutations in French patients with Gorlin syndrome. The Journal of Investigative Dermatology, 121(3), 478-481. https://doi.org/10.1046/j.1523-1747.2003.12423.x
Campbell, M. J. (2019). Tales from topographic oceans: Topologically associated domains and cancer. Endocrine-Related Cancer, 26(11), R611-R626. https://doi.org/10.1530/ERC-19-0348
Chen, R., Shi, L., Hakenberg, J., Naughton, B., Sklar, P., Zhang, J., … Friend, S. H. (2016). Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nature Biotechnology, 34(5), 531-538. https://doi.org/10.1038/nbt.3514
Cusanovich, D. A., Hill, A. J., Aghamirzaie, D., Daza, R. M., Pliner, H. A., Berletch, J. B., … Shendure, J. (2018). A single-cell atlas of in vivo mammalian chromatin accessibility. Cell, 174(5), 1309-1324.e18. https://doi.org/10.1016/j.cell.2018.06.052
de Azevedo, J. W. V., de Medeiros Fernandes, T. A. A., Fernandes, J. V., Jr., de Azevedo, J. C. V., Lanza, D. C. F., Bezerra, C. M., … Fernandes, J. V. (2020). Biology and pathogenesis of human osteosarcoma. Oncology Letters, 19(2), 1099-1116.
Dogruluk, T., Tsang, Y. H., Espitia, M., Chen, F., Chen, T., Chong, Z., … Scott, K. L. (2015). Identification of variant-specific functions of PIK3CA by rapid Phenotyping of rare mutations. Cancer Research, 75(24), 5341-5354. https://doi.org/10.1158/0008-5472.Can-15-1654
Edery, P., Lyonnet, S., Mulligan, L. M., Pelet, A., Dow, E., Abel, L., … Munnich, A. (1994). Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature, 367(6461), 378-380. https://doi.org/10.1038/367378a0
Eggermann, T., Perez de Nanclares, G., Maher, E. R., Temple, I. K., Tümer, Z., Monk, D., … Netchine, I. (2015). Imprinting disorders: A group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. Clinical Epigenetics, 7, 123. https://doi.org/10.1186/s13148-015-0143-8
El-Brolosy, M. A., & Stainier, D. Y. R. (2017). Genetic compensation: A phenomenon in search of mechanisms. PLoS Genetics, 13(7), e1006780. https://doi.org/10.1371/journal.pgen.1006780
Esteller, M. (2008). Epigenetics in cancer. The New England Journal of Medicine, 358(11), 1148-1159. https://doi.org/10.1056/NEJMra072067
Evans, D. G., & Farndon, P. A. (1993). Nevoid Basal Cell Carcinoma Syndrome. In R. A. Pagon, M. P. Adam, H. H. Ardinger, S. E. Wallace, A. Amemiya, L. J. H. Bean, et al. (Eds.), GeneReviews(R). Seattle (WA): University of Washington, Seattle.
Folle, G. A. (2008). Nuclear architecture, chromosome domains and genetic damage. Mutation Research, 658(3), 172-183. https://doi.org/10.1016/j.mrrev.2007.08.005
Forbes, S. A., Beare, D., Boutselakis, H., Bamford, S., Bindal, N., Tate, J., … Campbell, P. J. (2017). COSMIC: Somatic cancer genetics at high-resolution. Nucleic Acids Research, 45(D1), D777-d783. https://doi.org/10.1093/nar/gkw1121
Gecz, J., & Thomas, P. Q. (2020). Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics. Current Opinion in Genetics & Development, 65, 169-175. https://doi.org/10.1016/j.gde.2020.06.012
Gielen, R., Reinders, M., Koillinen, H. K., Paulussen, A. D. C., Mosterd, K., & van Geel, M. (2018). PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome. Journal of Human Genetics, 63(9), 965-969. https://doi.org/10.1038/s10038-018-0485-0
Gorlin, R. J. (2004). Nevoid basal cell carcinoma (Gorlin) syndrome. Genetics in Medicine, 6(6), 530-539.
Guerrero-Martinez, J. A., & Reyes, J. C. (2018). High expression of SMARCA4 or SMARCA2 is frequently associated with an opposite prognosis in cancer. Scientific Reports, 8(1), 2043. https://doi.org/10.1038/s41598-018-20217-3
Hart, J. R., Zhang, Y., Liao, L., Ueno, L., Du, L., Jonkers, M., … Vogt, P. K. (2015). The butterfly effect in cancer: A single base mutation can remodel the cell. Proceedings of the National Academy of Sciences of the United States of America, 112(4), 1131-1136. https://doi.org/10.1073/pnas.1424012112
Helming, K. C., Wang, X., & Roberts, C. W. M. (2014). Vulnerabilities of mutant SWI/SNF complexes in cancer. Cancer Cell, 26(3), 309-317. https://doi.org/10.1016/j.ccr.2014.07.018
Horn, D., Chyrek, M., Kleier, S., Luttgen, S., Bolz, H., Hinkel, G. K., … Kutsche, K. (2005). Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. European Journal of Human Genetics, 13(5), 563-569. https://doi.org/10.1038/sj.ejhg.5201391
Ju, Y. S., Alexandrov, L. B., Gerstung, M., Martincorena, I., Nik-Zainal, S., Ramakrishna, M., … Campbell, P. J. (2014). Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer. eLife, 3, e02935. https://doi.org/10.7554/eLife.02935
Kamikubo, Y. (2018). Genetic compensation of RUNX family transcription factors in leukemia. Cancer Science, 109(8), 2358-2363. https://doi.org/10.1111/cas.13664
Keppler-Noreuil, K. M., Rios, J. J., Parker, V. E., Semple, R. K., Lindhurst, M. J., Sapp, J. C., … Biesecker, L. G. (2015). PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. American Journal of Medical Genetics. Part A, 167A(2), 287-295. https://doi.org/10.1002/ajmg.a.36836
Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A. M., Deardorff, M. A., Gillett, P. M., … Hennekam, R. C. (2018). Diagnosis and management of Cornelia de Lange syndrome: First international consensus statement. Nature Reviews. Genetics, 19(10), 649-666. https://doi.org/10.1038/s41576-018-0031-0
Kwiatkowski, F., Perthus, I., Uhrhammer, N., Francannet, C., Arbre, M., Bidet, Y., & Bignon, Y. J. (2020). Association between hereditary predisposition to common cancers and congenital multimalformations. Congenital Anomalies, 60(1), 22-31. https://doi.org/10.1111/cga.12329
Lawless, C., Greaves, L., Reeve, A. K., Turnbull, D. M., & Vincent, A. E. (2020). The rise and rise of mitochondrial DNA mutations. Open Biology, 10(5), 200061. https://doi.org/10.1098/rsob.200061
Levy-Lahad, E., & Friedman, E. (2007). Cancer risks among BRCA1 and BRCA2 mutation carriers. British Journal of Cancer, 96(1), 11-15. https://doi.org/10.1038/sj.bjc.6603535
Lindstrom, E., Shimokawa, T., Toftgard, R., & Zaphiropoulos, P. G. (2006). PTCH mutations: Distribution and analyses. Human Mutation, 27(3), 215-219. https://doi.org/10.1002/humu.20296
Liu, Y., Hu, X., Han, C., Wang, L., Zhang, X., He, X., & Lu, X. (2015). Targeting tumor suppressor genes for cancer therapy. BioEssays, 37(12), 1277-1286. https://doi.org/10.1002/bies.201500093
Lupianez, D. G., Spielmann, M., & Mundlos, S. (2016). Breaking TADs: How alterations of chromatin domains result in disease. Trends in Genetics, 32(4), 225-237. https://doi.org/10.1016/j.tig.2016.01.003
Maas, S. M., Vansenne, F., Kadouch, D. J., Ibrahim, A., Bliek, J., Hopman, S., … Hennekam, R. C. (2016). Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups. American Journal of Medical Genetics. Part A, 170(9), 2248-2260. https://doi.org/10.1002/ajmg.a.37801
Madsen, R. R., Vanhaesebroeck, B., & Semple, R. K. (2018). Cancer-associated PIK3CA mutations in overgrowth disorders. Trends in Molecular Medicine, 24(10), 856-870. https://doi.org/10.1016/j.molmed.2018.08.003
Mannini, L., Menga, S., & Musio, A. (2010). The expanding universe of cohesin functions: A new genome stability caretaker involved in human disease and cancer. Human Mutation, 31(6), 623-630. https://doi.org/10.1002/humu.21252
Martin, C. L., Kirkpatrick, B. E., & Ledbetter, D. H. (2015). CNVs, aneuploidies and human disease. Clinics in Perinatology, 42(2), 227-242. https://doi.org/10.1016/j.clp.2015.03.001
Martire, S., & Banaszynski, L. A. (2020). The roles of histone variants in fine-tuning chromatin organization and function. Nature Reviews. Molecular Cell Biology, 21(9), 522-541. https://doi.org/10.1038/s41580-020-0262-8
Mazzola, M., Deflorian, G., Pezzotta, A., Ferrari, L., Fazio, G., Bresciani, E., … Pistocchi, A. (2019). NIPBL: A new player in myeloid cell differentiation. Haematologica, 104(7), 1332-1341. https://doi.org/10.3324/haematol.2018.200899
Melis, D., Carvalho, D., Barbaro-Dieber, T., Espay, A. J., Gambello, M. J., Gener, B., … Hennekam, R. C. (2020). Primrose syndrome: Characterization of the phenotype in 42 patients. Clinical Genetics, 97(6), 890-901. https://doi.org/10.1111/cge.13749
Merid, S. K., Goranskaya, D., & Alexeyenko, A. (2014). Distinguishing between driver and passenger mutations in individual cancer genomes by network enrichment analysis. BMC Bioinformatics, 15, 308. https://doi.org/10.1186/1471-2105-15-308
Merks, J. H., Caron, H. N., & Hennekam, R. C. (2005). High incidence of malformation syndromes in a series of 1,073 children with cancer. American Journal of Medical Genetics. Part A, 134A(2), 132-143. https://doi.org/10.1002/ajmg.a.30603
Metzis, V., Courtney, A. D., Kerr, M. C., Ferguson, C., Rondon Galeano, M. C., Parton, R. G., … Wicking, C. (2013). Patched1 is required in neural crest cells for the prevention of orofacial clefts. Human Molecular Genetics, 22(24), 5026-5035. https://doi.org/10.1093/hmg/ddt353
Miller, R. W., & Rubinstein, J. H. (1995). Tumors in Rubinstein-Taybi syndrome. American Journal of Medical Genetics, 56(1), 112-115. https://doi.org/10.1002/ajmg.1320560125
Mulligan, L. M., Kwok, J. B., Healey, C. S., Elsdon, M. J., Eng, C., Gardner, E., … Ponder, B. A. J. (1993). Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature, 363(6428), 458-460. https://doi.org/10.1038/363458a0
Myers, K., Davies, S. M., Harris, R. E., Spunt, S. L., Smolarek, T., Zimmerman, S., … Mehta, P. A. (2012). The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations. Pediatric Blood & Cancer, 58(3), 462-465. https://doi.org/10.1002/pbc.23168
Ng, I. K., Lee, J., Ng, C., Kosmo, B., Chiu, L., Seah, E., … Tan, L. K. (2018). Preleukemic and second-hit mutational events in an acute myeloid leukemia patient with a novel germline RUNX1 mutation. Biomarker Research, 6, 16. https://doi.org/10.1186/s40364-018-0130-2
Nissim, S., Leshchiner, I., Mancias, J. D., Greenblatt, M. B., Maertens, O., Cassa, C. A., … Goessling, W. (2019). Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer. Nature Genetics, 51(9), 1308-1314. https://doi.org/10.1038/s41588-019-0475-y
Niwa, H. (2018). The principles that govern transcription factor network functions in stem cells. Development, 145(6), 157420. https://doi.org/10.1242/dev.157420
Park, S., Supek, F., & Lehner, B. (2018). Systematic discovery of germline cancer predisposition genes through the identification of somatic second hits. Nature Communications, 9(1), 2601. https://doi.org/10.1038/s41467-018-04900-7
Ponder, B. A. (2001). Cancer genetics. Nature, 411(6835), 336-341. https://doi.org/10.1038/35077207
Postema, F. A. M., Hopman, S. M. J., Deardorff, M. A., Merks, J. H. M., & Hennekam, R. C. (2017). Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. American Journal of Medical Genetics. Part A, 173(8), 2293-2295. https://doi.org/10.1002/ajmg.a.38290
Rauen, K. A., Schoyer, L., Schill, L., Stronach, B., Albeck, J., Andresen, B. S., … McCormick, F. (2018). Proceedings of the fifth international RASopathies symposium: When development and cancer intersect. American Journal of Medical Genetics. Part A, 176(12), 2924-2929. https://doi.org/10.1002/ajmg.a.40632
Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., … Hurles, M. E. (2006). Global variation in copy number in the human genome. Nature, 444(7118), 444-454. https://doi.org/10.1038/nature05329
Rinke, J., Chase, A., Cross, N. C. P., Hochhaus, A., & Ernst, T. (2020). EZH2 in myeloid malignancies. Cell, 9(7), 1639. https://doi.org/10.3390/cells9071639
Rossi, A., Kontarakis, Z., Gerri, C., Nolte, H., Holper, S., Kruger, M., & Stainier, D. Y. (2015). Genetic compensation induced by deleterious mutations but not gene knockdowns. Nature, 524(7564), 230-233. https://doi.org/10.1038/nature14580
Salehi, S., Taheri, M. N., Azarpira, N., Zare, A., & Behzad-Behbahani, A. (2017). State of the art technologies to explore long non-coding RNAs in cancer. Journal of Cellular and Molecular Medicine, 21(12), 3120-3140. https://doi.org/10.1111/jcmm.13238
Shlien, A., Tabori, U., Marshall, C. R., Pienkowska, M., Feuk, L., Novokmet, A., … Malkin, D. (2008). Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proceedings of the National Academy of Sciences of the United States of America, 105(32), 11264-11269. https://doi.org/10.1073/pnas.0802970105
Smith, I. N., Thacker, S., Seyfi, M., Cheng, F., & Eng, C. (2019). Conformational dynamics and allosteric regulation landscapes of Germline PTEN mutations associated with autism compared to those associated with cancer. American Journal of Human Genetics, 104(5), 861-878. https://doi.org/10.1016/j.ajhg.2019.03.009
Sonawane, A. R., Platig, J., Fagny, M., Chen, C. Y., Paulson, J. N., Lopes-Ramos, C. M., … Kuijjer, M. L. (2017). Understanding tissue-specific gene regulation. Cell Reports, 21(4), 1077-1088. https://doi.org/10.1016/j.celrep.2017.10.001
Sousa, S. B., & Hennekam, R. C. (2014). Phenotype and genotype in Nicolaides-Baraitser syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 166c(3), 302-314. https://doi.org/10.1002/ajmg.c.31409
Stratton, M. R., Campbell, P. J., & Futreal, P. A. (2009). The cancer genome. Nature, 458(7239), 719-724. https://doi.org/10.1038/nature07943
Torgovnick, A., & Schumacher, B. (2015). DNA repair mechanisms in cancer development and therapy. Frontiers in Genetics, 6, 157. https://doi.org/10.3389/fgene.2015.00157
Twigg, S. R., Babbs, C., van den Elzen, M. E., Goriely, A., Taylor, S., McGowan, S. J., … Wilkie, A. O. (2013). Cellular interference in craniofrontonasal syndrome: Males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Human Molecular Genetics, 22(8), 654-662. https://doi.org/10.1093/hmg/ddt015
Umlauf, D., & Mourad, R. (2019). The 3D genome: From fundamental principles to disease and cancer. Seminars in Cell & Developmental Biology, 90, 128-137. https://doi.org/10.1016/j.semcdb.2018.07.002
Valton, A. L., & Dekker, J. (2016). TAD disruption as oncogenic driver. Current Opinion in Genetics & Development, 36, 34-40. https://doi.org/10.1016/j.gde.2016.03.008
Venot, Q., Blanc, T., Rabia, S. H., Berteloot, L., Ladraa, S., Duong, J. P., … Canaud, G. (2018). Targeted therapy in patients with PIK3CA-related overgrowth syndrome. Nature, 558(7711), 540-546. https://doi.org/10.1038/s41586-018-0217-9
Vitting-Seerup, K., & Sandelin, A. (2017). The landscape of isoform switches in human cancers. Molecular Cancer Research, 15(9), 1206-1220. https://doi.org/10.1158/1541-7786.Mcr-16-0459
Vogelstein, B., Papadopoulos, N., Velculescu, V. E., Zhou, S., Diaz, L. A., Jr., & Kinzler, K. W. (2013). Cancer genome landscapes. Science, 339(6127), 1546-1558. https://doi.org/10.1126/science.1235122
Waddington, C. H. (1942). The epigenotype. Endeavour, 18-20. Reprinted in: Int J Epidemiol 2012, 41(1), 10-13. https://doi.org/10.1093/ije/dyr184
Walsh, M. F., Chang, V. Y., Kohlmann, W. K., Scott, H. S., Cunniff, C., Bourdeaut, F., … Savage, S. A. (2017). Recommendations for childhood cancer screening and surveillance in DNA repair disorders. Clinical Cancer Research, 23(11), e23-e31. https://doi.org/10.1158/1078-0432.CCR-17-0465
Warren, M., Lord, C. J., Masabanda, J., Griffin, D., & Ashworth, A. (2003). Phenotypic effects of heterozygosity for a BRCA2 mutation. Human Molecular Genetics, 12(20), 2645-2656. https://doi.org/10.1093/hmg/ddg277
Wilkins, J. F., & Ubeda, F. (2011). Diseases asociated with genomic imprinting. Progress in Molecular Biology and Translational Science, 101, 401-445. https://doi.org/10.1016/B978-0-12-387685-0.00013-5
Yu, C., Yao, X., Zhao, L., Wang, P., Zhang, Q., Zhao, C., … Wei, Y. (2017). Wolf-Hirschhorn syndrome candidate 1 (whsc1) functions as a tumor suppressor by governing cell differentiation. Neoplasia, 19(8), 606-616. https://doi.org/10.1016/j.neo.2017.05.001
Zakari, M., Yuen, K., & Gerton, J. L. (2015). Etiology and pathogenesis of the cohesinopathies. Wiley Interdisciplinary Reviews: Developmental Biology, 4(5), 489-504. https://doi.org/10.1002/wdev.190
Zhang, J., Walsh, M. F., Wu, G., Edmonson, M. N., Gruber, T. A., Easton, J., … Downing, J. R. (2015). Germline mutations in predisposition genes in pediatric cancer. The New England Journal of Medicine, 373(24), 2336-2346. https://doi.org/10.1056/NEJMoa1508054
Zhang, X., Liu, J., Liang, X., Chen, J., Hong, J., Li, L., … Cai, X. (2016). History and progression of fat cadherins in health and disease. Oncotargets and Therapy, 9, 7337-7343. https://doi.org/10.2147/ott.S111176