|
1
|
Siegel RL, Miller KD and Jemal A: Cancer
statistics, 2019. CA Cancer J Clin. 69:7–34. 2019.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Faderl S, Talpaz M, Estrov Z, O'Brien S,
Kurzrock R and Kantarjian HM: The biology of chronic myeloid
leukemia. N Engl J Med. 341:164–172. 1999.PubMed/NCBI View Article : Google Scholar
|
|
3
|
Druker BJ, Guilhot F, O'Brien SG, Gathmann
I, Kantarjian H, Gattermann N, Deininger MW, Silver RT, Goldman JM,
Stone RM, et al: Five-year follow-up of patients receiving imatinib
for chronic myeloid leukemia. N Engl J Med. 355:2408–2417.
2006.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Noone AM, Howlader N, Krapcho M, Miller D,
Brest A, Yu M, Ruhl J, Tatalovich Z, Mariotto A, Lewis DR (eds), et
al: SEER Cancer Statistics Review, 1975-2015, National Cancer
Institute. Bethesda, MD, 2018. https://seer.cancer.gov/csr/1975_2015/.
|
|
5
|
O'Brien SG, Guilhot F, Larson RA, Gathmann
I, Baccarani M, Cervantes F, Cornelissen JJ, Fischer T, Hochhaus A,
Hughes T, et al: Imatinib compared with interferon and low-dose
cytarabine for newly diagnosed chronic-phase chronic myeloid
leukemia. N Engl J Med. 348:994–1004. 2003.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Branford S, Fletcher L, Cross NC, Müller
MC, Hochhaus A, Kim DW, Radich JP, Saglio G, Pane F, Kamel-Reid S,
et al: Desirable performance characteristics for BCR-ABL
measurement on an international reporting scale to allow consistent
interpretation of individual patient response and comparison of
response rates between clinical trials. Blood. 112:3330–3338.
2008.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Hochhaus A, Baccarani M, Silver RT,
Schiffer C, Apperley JF, Cervantes F, Clark RE, Cortes JE,
Deininger MW, Guilhot F, et al: European LeukemiaNet 2020
recommendations for treating chronic myeloid leukemia. Leukemia.
34:966–984. 2020.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Apperley JF: Part I: Mechanisms of
resistance to imatinib in chronic myeloid leukaemia. Lancet Oncol.
8:1018–1029. 2007.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Volpe G, Panuzzo C, Ulisciani S and
Cilloni D: Imatinib resistance in CML. Cancer Lett. 274:1–9.
2009.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Mitchell R, Hopcroft LEM, Baquero P, Allan
EK, Hewit K, James D, Hamilton G, Mukhopadhyay A, O'Prey J, Hair A,
et al: Targeting BCR-ABL-independent TKI resistance in chronic
myeloid leukemia by mTOR and autophagy inhibition. J Natl Cancer
Inst. 110:467–478. 2018.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Zheng Q, Cao J, Hamad N, Kim HJ, Moon JH,
Sohn SK, Jung CW, Lipton JH and Kim DD: Single nucleotide
polymorphisms in apoptosis pathway are associated with response to
imatinib therapy in chronic myeloid leukemia. J Transl Med.
14(82)2016.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Ng KP, Hillmer AM, Chuah CT, Juan WC, Ko
TK, Teo AS, Ariyaratne PN, Takahashi N, Sawada K, Fei Y, et al: A
common BIM deletion polymorphism mediates intrinsic resistance and
inferior responses to tyrosine kinase inhibitors in cancer. Nat
Med. 18:521–528. 2012.PubMed/NCBI View
Article : Google Scholar
|
|
13
|
Ko TK, Chin HS, Chuah CT, Huang JW, Ng KP,
Khaw SL, Huang DC and Ong ST: The BIM deletion polymorphism: A
paradigm of a permissive interaction between germline and acquired
TKI resistance factors in chronic myeloid leukemia. Oncotarget.
7:2721–2733. 2016.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Kim T, Tyndel MS, Zhang Z, Ahn J, Choi S,
Szardenings M, Lipton JH, Kim HJ and Kim Dong Hwan D: Exome
sequencing reveals DNMT3A and ASXL1 variants associate with
progression of chronic myeloid leukemia after tyrosine kinase
inhibitor therapy. Leuk Res. 59:142–148. 2017.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Loscocco F, Visani G, Galimberti S, Curti
A and Isidori A: BCR-ABL independent mechanisms of resistance in
chronic myeloid leukemia. Front Oncol. 9(939)2019.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Lavrov AV, Chelysheva EY, Smirnikhina SA,
Shukhov OA, Turkina AG, Adilgereeva EP and Kutsev SI: Frequent
variations in cancer-related genes may play prognostic role in
treatment of patients with chronic myeloid leukemia. BMC Genet. 17
(Suppl 1)(S14)2016.PubMed/NCBI View Article : Google Scholar
|
|
17
|
McGowan-Jordan J, Simons A and Schmid M
(eds): An International System for Human Cytogenomic Nomenclature
(2016). Karger, 2016. https://www.karger.com/Book/Home/271658.
|
|
18
|
Solé X, Guinó E, Valls J, Iniesta R and
Moreno V: SNPStats: A web tool for the analysis of association
studies. Bioinformatics. 22:1928–1929. 2006.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Quintás-Cardama A, Kantarjian HM and
Cortes JE: Mechanisms of primary and secondary resistance to
imatinib in chronic myeloid leukemia. Cancer Control. 16:122–131.
2009.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Fassad MR, Shoemark A, Legendre M, Hirst
RA, Koll F, le Borgne P, Louis B, Daudvohra F, Patel MP, Thomas L,
et al: Mutations in outer dynein arm heavy chain DNAH9 cause motile
cilia defects and situs inversus. Am J Hum Genet. 103:984–994.
2018.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Carithers LJ, Ardlie A, Kristin A, Branton
PA, Britton A, Buia SA, Compton CC, DeLuca DS, Peter-Demchok J,
Gelfand ET, et al: A novel approach to high-quality postmortem
tissue procurement: The GTEx Project. Biopreserv Biobank.
13:311–319. 2015.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Donner I, Katainen R, Tanskanen T,
Kaasinen E, Aavikko M, Ovaska K, Artama M, Pukkala E and Aaltonen
LA: Candidate susceptibility variants for esophageal squamous cell
carcinoma. Genes Chromosomes Cancer. 56:453–459. 2017.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Shah SP, Roth A, Goya R, Oloumi A, Ha G,
Zhao Y, Turashvili G, Ding J, Tse K, Haffari G, et al: The clonal
and mutational evolution spectrum of primary triple-negative breast
cancers. Nature. 486:395–399. 2012.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Gruel N, Benhamo V, Bhalshankar J, Popova
T, Fréneaux P, Arnould L, Mariani O, Stern MH, Raynal V,
Sastre-Garau X, et al: Polarity gene alterations in pure invasive
micropapillary carcinomas of the breast. Breast Cancer Res.
16(R46)2014.PubMed/NCBI View
Article : Google Scholar
|
|
25
|
Spinelli R, Pirola A, Redaelli S, Sharma
N, Raman H, Valletta S, Magistroni V, Piazza R and
Gambacorti-Passerini C: Identification of novel point mutations in
splicing sites integrating whole-exome and RNA-seq data in
myeloproliferative diseases. Mol Genet Genomic Med. 1:246–259.
2013.PubMed/NCBI View
Article : Google Scholar
|
|
26
|
Kusakabe M, Kutomi T, Watanabe K, Emoto N,
Aki N, Kage H, Hamano E, Kitagawa H, Nagase T, Sano A, et al:
Identification of G0S2 as a gene frequently methylated in squamous
lung cancer by combination of in silico and experimental
approaches. Int J Cancer. 126:1895–1902. 2010.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Gao J, Xi L, Yu R, Xu H, Wu M and Huang H:
Differential mutation detection capability through capture-based
targeted sequencing in plasma samples in hepatocellular carcinoma.
Front Oncol. 11(596789)2021.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Karczewski KJ, Francioli LC, Tiao G,
Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A,
Birnbaum DP, et al: The mutational constraint spectrum quantified
from variation in 141,456 humans. Nature. 581:434–443.
2020.PubMed/NCBI View Article : Google Scholar
|
|
29
|
Sim NL, Kumar P, Hu J, Henikoff S,
Schneider G and Ng PC: SIFT web server: Predicting effects of amino
acid substitutions on proteins. Nucleic Acids Res. 40 (Web Server
Issue):W452–W457. 2012.PubMed/NCBI View Article : Google Scholar
|
|
30
|
Quang D, Chen Y and Xie X: DANN: A deep
learning approach for annotating the pathogenicity of genetic
variants. Bioinformatics. 31:761–763. 2015.PubMed/NCBI View Article : Google Scholar
|
|
31
|
Lavrov AV, Chelysheva EY, Adilgereeva EP,
Shukhov OA, Smirnikhina SA, Kochergin-Nikitsky KS, Yakushina VD,
Tsaur GA, Mordanov SV, Turkina AG and Kutsev SI: Exome,
transcriptome and miRNA analysis don't reveal any molecular markers
of TKI efficacy in primary CML patients. BMC Med Genomics. 12
(Suppl 2)(S37)2019.PubMed/NCBI View Article : Google Scholar
|
|
32
|
Campbell V and Copland M: Hedgehog
signaling in cancer stem cells: A focus on hematological cancers.
Stem Cells Cloning. 8:27–38. 2015.PubMed/NCBI View Article : Google Scholar
|
|
33
|
Singh M, Chaudhry P and Merchant AA:
Primary cilia are present on human blood and bone marrow cells and
mediate Hedgehog signaling. Exp Hematol. 44:1181–1187.e2.
2016.PubMed/NCBI View Article : Google Scholar
|
|
34
|
Colantonio JR, Bekker JM, Kim SJ,
Morrissey KM, Crosbie RH and Hill KL: Expanding the role of the
dynein regulatory complex to non-axonemal functions: association of
GAS11 with the Golgi apparatus. Traffic. 7:538–548. 2006.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Miles RR, Crockett DK, Lim MS and
Elenitoba-Johnson KSJ: Analysis of BCL6-interacting proteins by
tandem mass spectrometry. Mol Cell Proteomics. 4:1898–1909.
2005.PubMed/NCBI View Article : Google Scholar
|
|
36
|
Matsushita Y, Furukawa T, Kasanuki H,
Nishibatake M, Kurihara Y, Ikeda A, Kamatani N, Takeshima H and
Matsuoka R: Mutation of junctophilin type 2 associated with
hypertrophic cardiomyopathy. J HumGenet. 52:543–548.
2007.PubMed/NCBI View Article : Google Scholar
|
|
37
|
Takeshima H, Komazaki S, Nishi M, Iino M
and Kangawa K: Junctophilins: A novel family of junctional membrane
complex proteins. Mol Cell. 6:11–22. 2000.PubMed/NCBI View Article : Google Scholar
|
|
38
|
Landstrom AP, Weisleder N, Batalden KB,
Bos JM, Tester DJ, Ommen SR, Wehrens XH, Claycomb WC, Ko JK, Hwang
M, et al: Mutations in JPH2-encoded junctophilin-2 associated with
hypertrophic cardiomyopathy in humans. J Mol Cell Cardiol.
42:1026–1035. 2007.PubMed/NCBI View Article : Google Scholar
|
|
39
|
Aifantis I, Borowski C, Gounari F,
Lacorazza HD, Nikolich-Zugich J and von Boehmer H: A critical role
for the cytoplasmic tail of pT-alpha in T lymphocyte development.
Nat Immunol. 3:483–488. 2002.PubMed/NCBI View
Article : Google Scholar
|
|
40
|
Tate JG, Bamford S, Jubb HC, Sondka Z,
Beare DM, Bindal N, Boutselakis H, Cole CG, Creatore C, Dawson E,
et al: COSMIC: The catalogue of somatic mutations in cancer.
Nucleic Acids Res. 47(D1):D941–D947. 2019.PubMed/NCBI View Article : Google Scholar
|
|
41
|
Lucas S, De Smet C, Arden KC, Viars CS,
Lethé B, Lurquin C and Boon T: Identification of a new MAGE gene
with tumor-specific expression by representational difference
analysis. Cancer Res. 58:743–752. 1998.PubMed/NCBI
|
