REFERENCES
Bantysh, O. B., & Buzdin, A. A.
(2009). Novel family of human transposable elements formed due to fusion
of the first exon of gene MAST2 with retrotransposon SVA.Biochemistry (Mosc), 74 (12), 1393-1399.
doi:10.1134/s0006297909120153
Boland, C. R., Koi, M., Chang, D. K.,
& Carethers, J. M. (2008). The biochemical basis of microsatellite
instability and abnormal immunohistochemistry and clinical behavior in
Lynch syndrome: from bench to bedside. Fam Cancer, 7 (1), 41-52.
doi:10.1007/s10689-007-9145-9
Cohen, S. A., & Leininger, A. (2014).
The genetic basis of Lynch syndrome and its implications for clinical
practice and risk management. Appl Clin Genet, 7 , 147-158.
doi:10.2147/TACG.S51483
Cordaux, R., & Batzer, M. A. (2009).
The impact of retrotransposons on human genome evolution. Nat Rev
Genet, 10 (10), 691-703. doi:10.1038/nrg2640
Da Silva, F., Wernhoff, P.,
Dominguez-Barrera, C., & Dominguez-Valentin, M. (2016). Update on
Hereditary Colorectal Cancer. Anticancer Res, 36 (9), 4399-4405.
doi:10.21873/anticanres.10983
Damert, A., Raiz, J., Horn, A. V.,
Lower, J., Wang, H., Xing, J., . . . Schumann, G. G. (2009).
5’-Transducing SVA retrotransposon groups spread efficiently throughout
the human genome. Genome Res, 19 (11), 1992-2008.
doi:10.1101/gr.093435.109
de la Chapelle, A. (2005). The
incidence of Lynch syndrome. Fam Cancer, 4 (3), 233-237.
doi:10.1007/s10689-004-5811-3
Hancks, D. C., Ewing, A. D., Chen, J.
E., Tokunaga, K., & Kazazian, H. H., Jr. (2009). Exon-trapping mediated
by the human retrotransposon SVA. Genome Res, 19 (11), 1983-1991.
doi:10.1101/gr.093153.109
Hancks, D. C., & Kazazian, H. H., Jr.
(2016). Roles for retrotransposon insertions in human disease. Mob
DNA, 7 , 9. doi:10.1186/s13100-016-0065-9
Kloor, M., Sutter, C., Wentzensen,
N., Cremer, F. W., Buckowitz, A., Keller, M., . . . Gebert, J. (2004). A
large MSH2 Alu insertion mutation causes HNPCC in a German kindred.Hum Genet, 115 (5), 432-438. doi:10.1007/s00439-004-1176-9
Leclerc, J., Flament, C., Lovecchio,
T., Delattre, L., Ait Yahya, E., Baert-Desurmont, S., . . . Buisine, M.
P. (2018). Diversity of genetic events associated with MLH1 promoter
methylation in Lynch syndrome families with heritable constitutional
epimutation. Genet Med, 20 (12), 1589-1599.
doi:10.1038/gim.2018.47
Liu, Q., Hesson, L. B., Nunez, A. C.,
Packham, D., Williams, R., Ward, R. L., & Sloane, M. A. (2016). A
cryptic paracentric inversion of MSH2 exons 2-6 causes Lynch syndrome.Carcinogenesis, 37 (1), 10-17. doi:10.1093/carcin/bgv154
Marshall, B., Isidro, G., & Boavida,
M. G. (1996). Insertion of a short Alu sequence into the hMSH2 gene
following a double cross over next to sequences with chi homology.Gene, 174 (1), 175-179. doi:10.1016/0378-1119(96)00515-x
Mork, M. E., Rodriguez, A., Taggart,
M. W., Rodriguez-Bigas, M. A., Lynch, P. M., Bannon, S. A., . . . Vilar,
E. (2017). Identification of MSH2 inversion of exons 1-7 in clinical
evaluation of families with suspected Lynch syndrome. Fam Cancer,
16 (3), 357-361. doi:10.1007/s10689-016-9960-y
Peltomaki, P., & Vasen, H. (2004).
Mutations associated with HNPCC predisposition – Update of
ICG-HNPCC/INSiGHT mutation database. Dis Markers, 20 (4-5),
269-276. doi:10.1155/2004/305058
Raiz, J., Damert, A., Chira, S.,
Held, U., Klawitter, S., Hamdorf, M., . . . Schumann, G. G. (2012). The
non-autonomous retrotransposon SVA is trans-mobilized by the human
LINE-1 protein machinery. Nucleic Acids Res, 40 (4), 1666-1683.
doi:10.1093/nar/gkr863
Rebollo, R., Romanish, M. T., &
Mager, D. L. (2012). Transposable elements: an abundant and natural
source of regulatory sequences for host genes. Annu Rev Genet,
46 , 21-42. doi:10.1146/annurev-genet-110711-155621
Rhees, J., Arnold, M., & Boland, C.
R. (2014). Inversion of exons 1-7 of the MSH2 gene is a frequent cause
of unexplained Lynch syndrome in one local population. Fam Cancer,
13 (2), 219-225. doi:10.1007/s10689-013-9688-x
Solassol, J., Larrieux, M., Leclerc,
J., Ducros, V., Corsini, C., Chiesa, J., . . . Rey, J. M. (2019). Alu
element insertion in the MLH1 exon 6 coding sequence as a mutation
predisposing to Lynch syndrome. Hum Mutat, 40 (6), 716-720.
doi:10.1002/humu.23725
van der Klift, H. M., Tops, C. M.,
Hes, F. J., Devilee, P., & Wijnen, J. T. (2012). Insertion of an SVA
element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel
cause of Lynch syndrome. Hum Mutat, 33 (7), 1051-1055.
doi:10.1002/humu.22092
Wang, H., Xing, J., Grover, D.,
Hedges, D. J., Han, K., Walker, J. A., & Batzer, M. A. (2005). SVA
elements: a hominid-specific retroposon family. J Mol Biol,
354 (4), 994-1007. doi:10.1016/j.jmb.2005.09.085