1
|
Loeb LA, Loeb KR and Anderson JP: Multiple
mutations and cancer. Proc Natl Acad Sci USA. 100:776–781. 2003.
View Article : Google Scholar : PubMed/NCBI
|
2
|
Bougeard G, Olivier-Faivre L,
Baert-Desurmont S, Tinat J, Martin C, Bouvignies E, Vasseur S, Huet
F, Couillault G, Vabres P, et al: Diversity of the clinical
presentation of the MMR gene biallelic mutations. Fam Cancer.
13:131–135. 2014. View Article : Google Scholar : PubMed/NCBI
|
3
|
Cancer Genome Atlas Research Network:
Comprehensive genomic characterization defines human glioblastoma
genes and core pathways. Nature. 455:1061–1068. 2008. View Article : Google Scholar : PubMed/NCBI
|
4
|
Stark AM, Doukas A, Hugo HH, Hedderich J,
Hattermann K, Maximilian Mehdorn H and Held-Feindt J: Expression of
DNA mismatch repair proteins MLH1, MSH2, and MSH6 in recurrent
glioblastoma. Neurol Res. 37:95–105. 2015. View Article : Google Scholar : PubMed/NCBI
|
5
|
Stark AM, Doukas A, Hugo HH and Mehdorn
HM: The expression of mismatch repair proteins MLH1, MSH2 and MSH6
correlates with the Ki67 proliferation index and survival in
patients with recurrent glioblastoma. Neurol Res. 32:816–820. 2010.
View Article : Google Scholar : PubMed/NCBI
|
6
|
Hunter C, Smith R, Cahill DP, Stephens P,
Stevens C, Teague J, Greenman C, Edkins S, Bignell G, Davies H, et
al: A hypermutation phenotype and somatic MSH6 mutations in
recurrent human malignant gliomas after alkylator chemotherapy.
Cancer Res. 66:3987–3991. 2006. View Article : Google Scholar : PubMed/NCBI
|
7
|
Yip S, Miao J, Cahill DP, Iafrate AJ,
Aldape K, Nutt CL and Louis DN: MSH6 mutations arise in
glioblastomas during temozolomide therapy and mediate temozolomide
resistance. Clin Cancer Res. 15:4622–4629. 2009. View Article : Google Scholar : PubMed/NCBI
|
8
|
Edelmann W, Yang K, Umar A, Heyer J, Lau
K, Fan K, Liedtke W, Cohen PE, Kane MF, Lipford JR, et al: Mutation
in the mismatch repair gene Msh6 causes cancer susceptibility.
Cell. 91:467–477. 1997. View Article : Google Scholar : PubMed/NCBI
|
9
|
Yang G, Scherer SJ, Shell SS, Yang K, Kim
M, Lipkin M, Kucherlapati R, Kolodner RD and Edelmann W: Dominant
effects of an Msh6 missense mutation on DNA repair and cancer
susceptibility. Cancer Cell. 6:139–150. 2004. View Article : Google Scholar : PubMed/NCBI
|
10
|
Szadkowski M and Jiricny J: Identification
and functional characterization of the promoter region of the human
MSH6 gene. Genes Chromosomes Cancer. 33:36–46. 2002. View Article : Google Scholar : PubMed/NCBI
|
11
|
Maxwell JA, Johnson SP, McLendon RE,
Lister DW, Horne KS, Rasheed A, Quinn JA, Ali-Osman F, Friedman AH,
Modrich PL, et al: Mismatch repair deficiency does not mediate
clinical resistance to temozolomide in malignant glioma. Clin
Cancer Res. 14:4859–4868. 2008. View Article : Google Scholar : PubMed/NCBI
|
12
|
Gazzoli I and Kolodner RD: Regulation of
the human MSH6 gene by the Sp1 transcription factor and alteration
of promoter activity and expression by polymorphisms. Mol Cell
Biol. 23:7992–8007. 2003. View Article : Google Scholar : PubMed/NCBI
|
13
|
Rodriguez-Hernández I, Garcia JL,
Santos-Briz A, Hernández-Laín A, González-Valero JM, Gómez-Moreta
JA, Toldos-González O, Cruz JJ, Martin-Vallejo J and
González-Sarmiento R: Integrated analysis of mismatch repair system
in malignant astrocytomas. PLoS One. 8:e764012013. View Article : Google Scholar : PubMed/NCBI
|
14
|
Slean MM, Panigrahi GB, Ranum LP and
Pearson CE: Mutagenic roles of DNA ‘repair’ proteins in antibody
diversity and disease-associated trinucleotide repeat instability.
DNA Repair (Amst). 7:1135–1154. 2008. View Article : Google Scholar : PubMed/NCBI
|
15
|
Wieland M, Levin MK, Hingorani KS, Biro FN
and Hingorani MM: Mechanism of cadmium-mediated inhibition of
Msh2-Msh6 function in DNA mismatch repair. Biochemistry.
48:9492–9502. 2009. View Article : Google Scholar : PubMed/NCBI
|
16
|
Baglietto L, Lindor NM, Dowty JG, White
DM, Wagner A, Gomez Garcia EB and Vriends AH: Dutch Lynch Syndrome
Study Group. Cartwright NR, Barnetson RA, et al: Risks of Lynch
syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst.
102:193–201. 2010. View Article : Google Scholar : PubMed/NCBI
|
17
|
Yan SY, Zhou XY, Du X, Zhang TM, Lu YM,
Cai SJ, Xu XL, Yu BH, Zhou HH and Shi DR: Three novel missense
germline mutations in different exons of MSH6 gene in Chinese
hereditary non-polyposis colorectal cancer families. World J
Gastroenterol. 13:5021–5024. 2007. View Article : Google Scholar : PubMed/NCBI
|
18
|
Zhao YS, Hu FL, Wang F, Han B, Li DD, Li
XW and Zhu S: Meta-analysis of MSH6 gene mutation frequency in
colorectal and endometrial cancers. J Toxicol Environ Health A.
72:690–697. 2009. View Article : Google Scholar : PubMed/NCBI
|
19
|
Verma L, Kane MF, Brassett C, Schmeits J,
Evans DG, Kolodner RD and Maher ER: Mononucleotide microsatellite
instability and germline MSH6 mutation analysis in early onset
colorectal cancer. J Med Genet. 36:678–682. 1999.PubMed/NCBI
|
20
|
Poley JW, Wagner A, Hoogmans MM, Menko FH,
Tops C, Kros JM, Reddingius RE, Meijers-Heijboer H, Kuipers EJ and
Dinjens WN: Rotterdam Initiative on Gastrointestinal Hereditary
Tumors: Biallelic germline mutations of mismatch-repair genes: A
possible cause for multiple pediatric malignancies. Cancer.
109:2349–2356. 2007. View Article : Google Scholar : PubMed/NCBI
|
21
|
Menko FH, Kaspers GL, Meijer GA, Claes K,
van Hagen JM and Gille JJ: A homozygous MSH6 mutation in a child
with café-au-lait spots, oligodendroglioma and rectal cancer. Fam
Cancer. 3:123–127. 2004. View Article : Google Scholar : PubMed/NCBI
|
22
|
Goldberg Y, Porat RM, Kedar I, Shochat C,
Galinsky D, Hamburger T, Hubert A, Strul H, Kariiv R, Ben-Avi L, et
al: An Ashkenazi founder mutation in the MSH6 gene leading to
HNPCC. Fam Cancer. 9:141–150. 2010. View Article : Google Scholar : PubMed/NCBI
|
23
|
Ilencikova D, Sejnova D, Jindrova J and
Babal P: High-grade brain tumors in siblings with biallelic MSH6
mutations. Pediatr Blood Cancer. 57:1067–1070. 2011. View Article : Google Scholar : PubMed/NCBI
|
24
|
Therkildsen C, Ladelund S, Rambech E,
Persson A, Petersen A and Nilbert M: Glioblastomas, astrocytomas
and oligodendrogliomas linked to Lynch syndrome. Eur J Neurol.
22:717–724. 2015. View Article : Google Scholar : PubMed/NCBI
|
25
|
Ripperger T, Beger C, Rahner N, Sykora KW,
Bockmeyer CL, Lehmann U, Kreipe HH and Schlegelberger B:
Constitutional mismatch repair deficiency and childhood
leukemia/lymphoma-report on a novel biallelic MSH6 mutation.
Haematologica. 95:841–844. 2010. View Article : Google Scholar : PubMed/NCBI
|
26
|
Hegde MR, Chong B, Blazo ME, Chin LH, Ward
PA, Chintagumpala MM, Kim JY, Plon SE and Richards CS: A homozygous
mutation in MSH6 causes Turcot syndrome. Clin Cancer Res.
11:4689–4693. 2005. View Article : Google Scholar : PubMed/NCBI
|
27
|
Zhang J, Stevens MF, Laughton CA,
Madhusudan S and Bradshaw TD: Acquired resistance to temozolomide
in glioma cell lines: Molecular mechanisms and potential
translational applications. Oncology. 78:103–114. 2010. View Article : Google Scholar : PubMed/NCBI
|
28
|
Felsberg J, Thon N, Eigenbrod S, Hentschel
B, Sabel MC, Westphal M, Schackert G, Kreth FW, Pietsch T, Löffler
M, et al: Promoter methylation and expression of MGMT and the DNA
mismatch repair genes MLH1, MSH2, MSH6 and PMS2 in paired primary
and recurrent glioblastomas. Int J Cancer. 129:659–670. 2011.
View Article : Google Scholar : PubMed/NCBI
|
29
|
Cahill DP, Codd PJ, Batchelor TT, Curry WT
and Louis DN: MSH6 inactivation and emergent temozolomide
resistance in human glioblastomas. Clin Neurosurg. 55:165–171.
2008.PubMed/NCBI
|
30
|
Cahill DP, Levine KK, Betensky RA, Codd
PJ, Romany CA, Reavie LB, Batchelor TT, Futreal PA, Stratton MR,
Curry WT, et al: Loss of the mismatch repair protein MSH6 in human
glioblastomas is associated with tumor progression during
temozolomide treatment. Clin Cancer Res. 13:2038–2045. 2007.
View Article : Google Scholar : PubMed/NCBI
|
31
|
Nguyen SA, Stechishin OD, Luchman HA, Lun
XQ, Senger DL, Robbins SM, Cairncross JG and Weiss S: Novel MSH6
mutations in treatment-naïve glioblastoma and anaplastic
oligodendroglioma contribute to temozolomide resistance
independently of MGMT promoter methylation. Clin Cancer Res.
20:4894–4903. 2014. View Article : Google Scholar : PubMed/NCBI
|