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The repertoire of mutational signatures in human cancer.

Alexandrov LB, Kim J, Haradhvala NJ, Huang MN, Tian Ng AW, Wu Y, Boot A, Covington KR, Gordenin DA, Bergstrom EN, Islam SMA, Lopez-Bigas N, Klimczak LJ, McPherson JR, Morganella S, Sabarinathan R, Wheeler DA, Mustonen V; PCAWG Mutational Signatures Working Group, Getz G, Rozen SG, Stratton MR; PCAWG Consortium.

Nature. 2020 Feb;578(7793):94-101. doi: 10.1038/s41586-020-1943-3. Epub 2020 Feb 5.


Genomic and Transcriptomic Profiling of Combined Hepatocellular and Intrahepatic Cholangiocarcinoma Reveals Distinct Molecular Subtypes.

Xue R, Chen L, Zhang C, Fujita M, Li R, Yan SM, Ong CK, Liao X, Gao Q, Sasagawa S, Li Y, Wang J, Guo H, Huang QT, Zhong Q, Tan J, Qi L, Gong W, Hong Z, Li M, Zhao J, Peng T, Lu Y, Lim KHT, Boot A, Ono A, Chayama K, Zhang Z, Rozen SG, Teh BT, Wang XW, Nakagawa H, Zeng MS, Bai F, Zhang N.

Cancer Cell. 2019 Jun 10;35(6):932-947.e8. doi: 10.1016/j.ccell.2019.04.007. Epub 2019 May 23.


Allelic Switching of DLX5, GRB10, and SVOPL during Colorectal Cancer Tumorigenesis.

Boot A, Oosting J, Doorn S, Ouahoud S, Ventayol Garcia M, Ruano D, Morreau H, van Wezel T.

Int J Genomics. 2019 Apr 10;2019:1287671. doi: 10.1155/2019/1287671. eCollection 2019.


Declining free thyroxine levels over time in irradiated childhood brain tumor survivors.

van Iersel L, Clement SC, Schouten-van Meeteren AYN, Boot AM, Claahsen-van der Grinten HL, Granzen B, Sen Han K, Janssens GO, Michiels EM, van Trotsenburg ASP, Vandertop WP, van Vuurden DG, Caron HN, Kremer LCM, van Santen HM.

Endocr Connect. 2018 Dec;7(12):1322-1332. doi: 10.1530/EC-18-0311.


HLA-G protein expression in colorectal cancer evaluated by immunohistochemistry and western blot analysis: Its expression characteristics remain enigmatic.

Swets M, Wouters A, Krijgsman D, van Vlierberghe RLP, Boot A, van Eendenburg JD, van Wezel T, Gelderblom H, van de Velde CJH, van den Elsen PJ, Kuppen PJK.

Clin Immunol. 2018 Sep;194:80-86. doi: 10.1016/j.clim.2018.07.005. Epub 2018 Jul 10.


Burosumab Therapy in Children with X-Linked Hypophosphatemia.

Carpenter TO, Whyte MP, Imel EA, Boot AM, Högler W, Linglart A, Padidela R, Van't Hoff W, Mao M, Chen CY, Skrinar A, Kakkis E, San Martin J, Portale AA.

N Engl J Med. 2018 May 24;378(21):1987-1998. doi: 10.1056/NEJMoa1714641.


In-depth characterization of the cisplatin mutational signature in human cell lines and in esophageal and liver tumors.

Boot A, Huang MN, Ng AWT, Ho SC, Lim JQ, Kawakami Y, Chayama K, Teh BT, Nakagawa H, Rozen SG.

Genome Res. 2018 May;28(5):654-665. doi: 10.1101/gr.230219.117. Epub 2018 Apr 9.


Management and consequences of postoperative fluctuations in plasma sodium concentration after pediatric brain tumor surgery in the sellar region: a national cohort analysis.

Kruis RWJ, Schouten-van Meeteren AYN, Finken MJJ, Oostdijk W, van Trotsenburg ASP, Boot AM, Claahsen-van der Grinten HL, van Lindert EJ, Han KS, Hoving EW, Michiels EMC, van Santen HM.

Pituitary. 2018 Aug;21(4):384-392. doi: 10.1007/s11102-018-0886-2.


Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.

Schubert SA, Ruano D, Elsayed FA, Boot A, Crobach S, Sarasqueta AF, Wolffenbuttel B, van der Klauw MM, Oosting J, Tops CM, van Eijk R, Vasen HF, Vossen RH, Nielsen M, Castellví-Bel S, Ruiz-Ponte C, Tomlinson I, Dunlop MG, Vodicka P, Wijnen JT, Hes FJ, Morreau H, de Miranda NF, Sijmons RH, van Wezel T.

Br J Cancer. 2018 Jan;118(2):e4. doi: 10.1038/bjc.2017.380. Epub 2017 Oct 12. No abstract available.


A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism.

van der Steen I, van Albada ME, Mohnike K, Christesen HT, Empting S, Salomon-Estebanez M, Greve Rasmussen A, Verrijn Stuart A, van der Linde AAA, Banerjee I, Boot AM.

Horm Res Paediatr. 2018;89(2):82-89. doi: 10.1159/000485184. Epub 2017 Dec 14.


ROS-induced near-homozygous genomes in thyroid cancer.

Corver WE, Demmers J, Oosting J, Sahraeian S, Boot A, Ruano D, Wezel TV, Morreau H.

Endocr Relat Cancer. 2018 Jan;25(1):83-97. doi: 10.1530/ERC-17-0288. Epub 2017 Oct 24.


Aristolochic acids and their derivatives are widely implicated in liver cancers in Taiwan and throughout Asia.

Ng AWT, Poon SL, Huang MN, Lim JQ, Boot A, Yu W, Suzuki Y, Thangaraju S, Ng CCY, Tan P, Pang ST, Huang HY, Yu MC, Lee PH, Hsieh SY, Chang AY, Teh BT, Rozen SG.

Sci Transl Med. 2017 Oct 18;9(412). pii: eaan6446. doi: 10.1126/scitranslmed.aan6446.


Long-term follow-up after bilateral percutaneous epiphysiodesis around the knee to reduce excessive predicted final height.

Goedegebuure WJ, Jonkers F, Boot AM, Bakker-van Waarde WM, van Tellingen V, Heeg M, Odink RJ, van Douveren F, Besselaar AT, van der Steen MC.

Arch Dis Child. 2018 Mar;103(3):219-223. doi: 10.1136/archdischild-2017-313295. Epub 2017 Oct 13.


Methylation associated transcriptional repression of ELOVL5 in novel colorectal cancer cell lines.

Boot A, Oosting J, van Eendenburg JDH, Kuppen PJK, Morreau H, van Wezel T.

PLoS One. 2017 Sep 20;12(9):e0184900. doi: 10.1371/journal.pone.0184900. eCollection 2017.


Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.

Schubert SA, Ruano D, Elsayed FA, Boot A, Crobach S, Sarasqueta AF, Wolffenbuttel B, van der Klauw MM, Oosting J, Tops CM, van Eijk R, Vasen HF, Vossen RH, Nielsen M, Castellví-Bel S, Ruiz-Ponte C, Tomlinson I, Dunlop MG, Vodicka P, Wijnen JT, Hes FJ, Morreau H, de Miranda NF, Sijmons RH, van Wezel T.

Br J Cancer. 2017 Sep 5;117(6):1215-1223. doi: 10.1038/bjc.2017.240. Epub 2017 Jul 25. Erratum in: Br J Cancer. 2018 Jan;118(2):e4.


Genome-scale mutational signatures of aflatoxin in cells, mice, and human tumors.

Huang MN, Yu W, Teoh WW, Ardin M, Jusakul A, Ng AWT, Boot A, Abedi-Ardekani B, Villar S, Myint SS, Othman R, Poon SL, Heguy A, Olivier M, Hollstein M, Tan P, Teh BT, Sabapathy K, Zavadil J, Rozen SG.

Genome Res. 2017 Sep;27(9):1475-1486. doi: 10.1101/gr.220038.116. Epub 2017 Jul 24.


Whole-Genome and Epigenomic Landscapes of Etiologically Distinct Subtypes of Cholangiocarcinoma.

Jusakul A, Cutcutache I, Yong CH, Lim JQ, Huang MN, Padmanabhan N, Nellore V, Kongpetch S, Ng AWT, Ng LM, Choo SP, Myint SS, Thanan R, Nagarajan S, Lim WK, Ng CCY, Boot A, Liu M, Ong CK, Rajasegaran V, Lie S, Lim AST, Lim TH, Tan J, Loh JL, McPherson JR, Khuntikeo N, Bhudhisawasdi V, Yongvanit P, Wongkham S, Totoki Y, Nakamura H, Arai Y, Yamasaki S, Chow PK, Chung AYF, Ooi LLPJ, Lim KH, Dima S, Duda DG, Popescu I, Broet P, Hsieh SY, Yu MC, Scarpa A, Lai J, Luo DX, Carvalho AL, Vettore AL, Rhee H, Park YN, Alexandrov LB, Gordân R, Rozen SG, Shibata T, Pairojkul C, Teh BT, Tan P.

Cancer Discov. 2017 Oct;7(10):1116-1135. doi: 10.1158/2159-8290.CD-17-0368. Epub 2017 Jun 30.


Chemosensitivity of BRCA1-Mutated Ovarian Cancer Cells and Established Cytotoxic Agents.

van Haaften C, van Eendenburg J, Boot A, Corver WE, Haans L, van Wezel T, Trimbos JB.

Int J Gynecol Cancer. 2017 Oct;27(8):1571-1578. doi: 10.1097/IGC.0000000000001052.


Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study.

Domingo E, Freeman-Mills L, Rayner E, Glaire M, Briggs S, Vermeulen L, Fessler E, Medema JP, Boot A, Morreau H, van Wezel T, Liefers GJ, Lothe RA, Danielsen SA, Sveen A, Nesbakken A, Zlobec I, Lugli A, Koelzer VH, Berger MD, Castellví-Bel S, Muñoz J; Epicolon consortium, de Bruyn M, Nijman HW, Novelli M, Lawson K, Oukrif D, Frangou E, Dutton P, Tejpar S, Delorenzi M, Kerr R, Kerr D, Tomlinson I, Church DN.

Lancet Gastroenterol Hepatol. 2016 Nov;1(3):207-216. doi: 10.1016/S2468-1253(16)30014-0. Epub 2016 Jul 20.


Tumor LINE-1 Methylation Level in Association with Survival of Patients with Stage II Colon Cancer.

Swets M, Zaalberg A, Boot A, van Wezel T, Frouws MA, Bastiaannet E, Gelderblom H, van de Velde CJ, Kuppen PJ.

Int J Mol Sci. 2016 Dec 27;18(1). pii: E36. doi: 10.3390/ijms18010036.


Prevalence and Risk Factors of Early Endocrine Disorders in Childhood Brain Tumor Survivors: A Nationwide, Multicenter Study.

Clement SC, Schouten-van Meeteren AY, Boot AM, Claahsen-van der Grinten HL, Granzen B, Sen Han K, Janssens GO, Michiels EM, van Trotsenburg AS, Vandertop WP, van Vuurden DG, Kremer LC, Caron HN, van Santen HM.

J Clin Oncol. 2016 Dec 20;34(36):4362-4370. Epub 2016 Oct 31.


Imprinted survival genes preclude loss of heterozygosity of chromosome 7 in cancer cells.

Boot A, Oosting J, de Miranda NF, Zhang Y, Corver WE, van de Water B, Morreau H, van Wezel T.

J Pathol. 2016 Sep;240(1):72-83. doi: 10.1002/path.4756.


Promoter methylation and mRNA expression of HLA-G in relation to HLA-G protein expression in colorectal cancer.

Swets M, Seneby L, Boot A, van Wezel T, Gelderblom H, van de Velde CJ, van den Elsen PJ, Kuppen PJ.

Hum Immunol. 2016 Sep;77(9):764-72. doi: 10.1016/j.humimm.2016.05.023. Epub 2016 May 28.


Automated radiogrammetry is a feasible method for measuring bone quality and bone maturation in severely disabled children.

Mergler S, de Man SA, Boot AM, Heus KG, Huijbers WA, van Rijn RR, Penning C, Evenhuis HM.

Pediatr Radiol. 2016 Jun;46(7):1017-22. doi: 10.1007/s00247-016-3548-4. Epub 2016 Mar 30.


Characterization of novel low passage primary and metastatic colorectal cancer cell lines.

Boot A, van Eendenburg J, Crobach S, Ruano D, Speetjens F, Calame J, Oosting J, Morreau H, van Wezel T.

Oncotarget. 2016 Mar 22;7(12):14499-509. doi: 10.18632/oncotarget.7391.


Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.

Timofeeva MN, Kinnersley B, Farrington SM, Whiffin N, Palles C, Svinti V, Lloyd A, Gorman M, Ooi LY, Hosking F, Barclay E, Zgaga L, Dobbins S, Martin L, Theodoratou E, Broderick P, Tenesa A, Smillie C, Grimes G, Hayward C, Campbell A, Porteous D, Deary IJ, Harris SE, Northwood EL, Barrett JH, Smith G, Wolf R, Forman D, Morreau H, Ruano D, Tops C, Wijnen J, Schrumpf M, Boot A, Vasen HF, Hes FJ, van Wezel T, Franke A, Lieb W, Schafmayer C, Hampe J, Buch S, Propping P, Hemminki K, Försti A, Westers H, Hofstra R, Pinheiro M, Pinto C, Teixeira M, Ruiz-Ponte C, Fernández-Rozadilla C, Carracedo A, Castells A, Castellví-Bel S, Campbell H, Bishop DT, Tomlinson IP, Dunlop MG, Houlston RS.

Sci Rep. 2015 Nov 10;5:16286. doi: 10.1038/srep16286.


Efficacy and Safety of Bisphosphonate Therapy in Children with Osteogenesis Imperfecta: A Systematic Review.

Rijks EB, Bongers BC, Vlemmix MJ, Boot AM, van Dijk AT, Sakkers RJ, van Brussel M.

Horm Res Paediatr. 2015;84(1):26-42. doi: 10.1159/000381713. Epub 2015 May 23. Review.


Synergistic effects of the sesquiterpene lactone, EPD, with cisplatin and paclitaxel in ovarian cancer cells.

van Haaften C, Boot A, Corver WE, van Eendenburg JD, Trimbos BJ, van Wezel T.

J Exp Clin Cancer Res. 2015 Apr 25;34:38. doi: 10.1186/s13046-015-0157-2.


Vitamin D in childhood and adolescence: an expert position statement.

Saggese G, Vierucci F, Boot AM, Czech-Kowalska J, Weber G, Camargo CA Jr, Mallet E, Fanos M, Shaw NJ, Holick MF.

Eur J Pediatr. 2015 May;174(5):565-76. doi: 10.1007/s00431-015-2524-6. Epub 2015 Apr 2. Review.


Bone mineral density after childhood cancer in 346 long-term adult survivors of childhood cancer.

den Hoed MA, Klap BC, te Winkel ML, Pieters R, van Waas M, Neggers SJ, Boot AM, Blijdorp K, van Dorp W, Pluijm SM, van den Heuvel-Eibrink MM.

Osteoporos Int. 2015 Feb;26(2):521-9. doi: 10.1007/s00198-014-2878-z. Epub 2014 Sep 11.


A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses.

van der Eerden BC, van der Heyden JC, van Hamburg JP, Schreuders-Koedam M, Asmawidjaja PS, de Muinck Keizer-Schrama SM, Boot AM, Lubberts E, Drop SL, van Leeuwen JP.

Bone. 2014 Dec;69:6-11. doi: 10.1016/j.bone.2014.08.005. Epub 2014 Sep 6.


Anticancer activity of novel pyrido[2,3-b]indolizine derivatives: the relevance of phenolic substituents.

Boot A, Brito A, VAN Wezel T, Morreau H, Costa M, Proença F.

Anticancer Res. 2014 Apr;34(4):1673-7.


Changes in nutritional status in childhood cancer patients: a prospective cohort study.

Brinksma A, Roodbol PF, Sulkers E, Kamps WA, de Bont ES, Boot AM, Burgerhof JG, Tamminga RY, Tissing WJ.

Clin Nutr. 2015 Feb;34(1):66-73. doi: 10.1016/j.clnu.2014.01.013. Epub 2014 Jan 23.


Common DNA variants predict tall stature in Europeans.

Liu F, Hendriks AE, Ralf A, Boot AM, Benyi E, Sävendahl L, Oostra BA, van Duijn C, Hofman A, Rivadeneira F, Uitterlinden AG, Drop SL, Kayser M.

Hum Genet. 2014 May;133(5):587-97. doi: 10.1007/s00439-013-1394-0. Epub 2013 Nov 20.


The homeobox gene MEIS1 is methylated in BRAF (p.V600E) mutated colon tumors.

Dihal AA, Boot A, van Roon EH, Schrumpf M, Fariña-Sarasqueta A, Fiocco M, Zeestraten EC, Kuppen PJ, Morreau H, van Wezel T, Boer JM.

PLoS One. 2013 Nov 7;8(11):e79898. doi: 10.1371/journal.pone.0079898. eCollection 2013.


The effect of the Taq1A variant in the dopamine D₂ receptor gene and common CYP2D6 alleles on prolactin levels in risperidone-treated boys.

Roke Y, van Harten PN, Franke B, Galesloot TE, Boot AM, Buitelaar JK.

Pharmacogenet Genomics. 2013 Sep;23(9):487-93. doi: 10.1097/FPC.0b013e3283647c33.


Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH.

Petkovic V, Miletta MC, Boot AM, Losekoot M, Flück CE, Pandey AV, Eblé A, Wit JM, Mullis PE.

Eur J Endocrinol. 2013 Feb 15;168(3):K35-43. doi: 10.1530/EJE-12-0847. Print 2013 Mar.


BRAF mutation-specific promoter methylation of FOX genes in colorectal cancer.

van Roon EH, Boot A, Dihal AA, Ernst RF, van Wezel T, Morreau H, Boer JM.

Clin Epigenetics. 2013 Jan 16;5(1):2. doi: 10.1186/1868-7083-5-2.


Risk of hyperprolactinemia and sexual side effects in males 10-20 years old diagnosed with autism spectrum disorders or disruptive behavior disorder and treated with risperidone.

Roke Y, Buitelaar JK, Boot AM, Tenback D, van Harten PN.

J Child Adolesc Psychopharmacol. 2012 Dec;22(6):432-9. doi: 10.1089/cap.2011.0109.


Bone mineral density in male adolescents with autism spectrum disorders and disruptive behavior disorder with or without antipsychotic treatment.

Roke Y, van Harten PN, Buitelaar JK, Tenback DE, Quekel LG, de Rijke YB, Boot AM.

Eur J Endocrinol. 2012 Dec;167(6):855-63. doi: 10.1530/EJE-12-0521. Epub 2012 Sep 25.


Obesity is underestimated using body mass index and waist-hip ratio in long-term adult survivors of childhood cancer.

Blijdorp K, van den Heuvel-Eibrink MM, Pieters R, Boot AM, Delhanty PJ, van der Lely AJ, Neggers SJ.

PLoS One. 2012;7(8):e43269. doi: 10.1371/journal.pone.0043269. Epub 2012 Aug 14.


The usefulness of lean six sigma to the development of a clinical pathway for hip fractures.

Niemeijer GC, Flikweert E, Trip A, Does RJ, Ahaus KT, Boot AF, Wendt KW.

J Eval Clin Pract. 2013 Oct;19(5):909-14. doi: 10.1111/j.1365-2753.2012.01875.x. Epub 2012 Jul 11.


Fertility of tall girls treated with high-dose estrogen, a dose-response relationship.

Hendriks AE, Drop SL, Laven JS, Boot AM.

J Clin Endocrinol Metab. 2012 Sep;97(9):3107-14. doi: 10.1210/jc.2012-1078. Epub 2012 Jun 20.


Antipsychotic-induced hyperprolactinemia and testosterone levels in boys.

Roke Y, van Harten PN, Buitelaar JK, Tenback DE, de Rijke YB, Boot AM.

Horm Res Paediatr. 2012;77(4):235-40. doi: 10.1159/000337910. Epub 2012 Apr 26.


A rare cause of facial nerve palsy in children: hyperostosis corticalis generalisata (Van Buchem disease). Three new pediatric cases and a literature review.

van Egmond ME, Dikkers FG, Boot AM, van Lierop AH, Papapoulos SE, Brouwer OF.

Eur J Paediatr Neurol. 2012 Nov;16(6):740-3. doi: 10.1016/j.ejpn.2012.03.002. Epub 2012 Mar 22.


The limited screening value of insulin-like growth factor-I as a marker for alterations in body composition in very long-term adult survivors of childhood cancer.

Blijdorp K, van den Heuvel-Eibrink M, Pieters R, Boot A, Sluimer J, van der Lelij AJ, Neggers S.

Pediatr Blood Cancer. 2012 Oct;59(4):711-6. doi: 10.1002/pbc.24015. Epub 2011 Dec 11.


Common polymorphisms in the GH/IGF-1 axis contribute to growth in extremely tall subjects.

Hendriks AE, Brown MR, Boot AM, Oostra BA, de Jong FH, Drop SL, Parks JS.

Growth Horm IGF Res. 2011 Dec;21(6):318-24. doi: 10.1016/j.ghir.2011.08.001. Epub 2011 Sep 25.


Genetic variation in candidate genes like the HMGA2 gene in the extremely tall.

Hendriks AE, Brown MR, Boot AM, Oostra BA, Drop SL, Parks JS.

Horm Res Paediatr. 2011;76(5):307-13. doi: 10.1159/000330764. Epub 2011 Sep 14.


The relation between 25-hydroxyvitamin D with peak bone mineral density and body composition in healthy young adults.

Boot AM, Krenning EP, de Muinck Keizer-Schrama SM.

J Pediatr Endocrinol Metab. 2011;24(5-6):355-60.


Mutation analysis of the LH receptor gene in Leydig cell adenoma and hyperplasia and functional and biochemical studies of activating mutations of the LH receptor gene.

Boot AM, Lumbroso S, Verhoef-Post M, Richter-Unruh A, Looijenga LH, Funaro A, Beishuizen A, van Marle A, Drop SL, Themmen AP.

J Clin Endocrinol Metab. 2011 Jul;96(7):E1197-205. doi: 10.1210/jc.2010-3031. Epub 2011 Apr 13.

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