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Page 1
POT1 loss-of-function variants predispose to familial melanoma.
Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, López-Otín C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ. Robles-Espinoza CD, et al. Among authors: petljak m. Nat Genet. 2014 May;46(5):478-481. doi: 10.1038/ng.2947. Epub 2014 Mar 30. Nat Genet. 2014. PMID: 24686849 Free PMC article.
Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer.
Nik-Zainal S, Wedge DC, Alexandrov LB, Petljak M, Butler AP, Bolli N, Davies HR, Knappskog S, Martin S, Papaemmanuil E, Ramakrishna M, Shlien A, Simonic I, Xue Y, Tyler-Smith C, Campbell PJ, Stratton MR. Nik-Zainal S, et al. Among authors: petljak m. Nat Genet. 2014 May;46(5):487-91. doi: 10.1038/ng.2955. Epub 2014 Apr 13. Nat Genet. 2014. PMID: 24728294 Free PMC article.
Germline TERT promoter mutations are rare in familial melanoma.
Harland M, Petljak M, Robles-Espinoza CD, Ding Z, Gruis NA, van Doorn R, Pooley KA, Dunning AM, Aoude LG, Wadt KA, Gerdes AM, Brown KM, Hayward NK, Newton-Bishop JA, Adams DJ, Bishop DT. Harland M, et al. Among authors: petljak m. Fam Cancer. 2016 Jan;15(1):139-44. doi: 10.1007/s10689-015-9841-9. Fam Cancer. 2016. PMID: 26433962 Free PMC article.
Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.
Brammeld JS, Petljak M, Martincorena I, Williams SP, Alonso LG, Dalmases A, Bellosillo B, Robles-Espinoza CD, Price S, Barthorpe S, Tarpey P, Alifrangis C, Bignell G, Vidal J, Young J, Stebbings L, Beal K, Stratton MR, Saez-Rodriguez J, Garnett M, Montagut C, Iorio F, McDermott U. Brammeld JS, et al. Among authors: petljak m. Genome Res. 2017 Apr;27(4):613-625. doi: 10.1101/gr.213546.116. Epub 2017 Feb 8. Genome Res. 2017. PMID: 28179366 Free PMC article.
Somatic mutations reveal asymmetric cellular dynamics in the early human embryo.
Ju YS, Martincorena I, Gerstung M, Petljak M, Alexandrov LB, Rahbari R, Wedge DC, Davies HR, Ramakrishna M, Fullam A, Martin S, Alder C, Patel N, Gamble S, O'Meara S, Giri DD, Sauer T, Pinder SE, Purdie CA, Borg Å, Stunnenberg H, van de Vijver M, Tan BK, Caldas C, Tutt A, Ueno NT, van 't Veer LJ, Martens JW, Sotiriou C, Knappskog S, Span PN, Lakhani SR, Eyfjörd JE, Børresen-Dale AL, Richardson A, Thompson AM, Viari A, Hurles ME, Nik-Zainal S, Campbell PJ, Stratton MR. Ju YS, et al. Among authors: petljak m. Nature. 2017 Mar 30;543(7647):714-718. doi: 10.1038/nature21703. Epub 2017 Mar 22. Nature. 2017. PMID: 28329761 Free PMC article.
Genome sequencing of normal cells reveals developmental lineages and mutational processes.
Behjati S, Huch M, van Boxtel R, Karthaus W, Wedge DC, Tamuri AU, Martincorena I, Petljak M, Alexandrov LB, Gundem G, Tarpey PS, Roerink S, Blokker J, Maddison M, Mudie L, Robinson B, Nik-Zainal S, Campbell P, Goldman N, van de Wetering M, Cuppen E, Clevers H, Stratton MR. Behjati S, et al. Among authors: petljak m. Nature. 2014 Sep 18;513(7518):422-425. doi: 10.1038/nature13448. Epub 2014 Jun 29. Nature. 2014. PMID: 25043003 Free PMC article.
Mechanisms of APOBEC3 mutagenesis in human cancer cells.
Petljak M, Dananberg A, Chu K, Bergstrom EN, Striepen J, von Morgen P, Chen Y, Shah H, Sale JE, Alexandrov LB, Stratton MR, Maciejowski J. Petljak M, et al. Nature. 2022 Jul;607(7920):799-807. doi: 10.1038/s41586-022-04972-y. Epub 2022 Jul 20. Nature. 2022. PMID: 35859169 Free PMC article.
Mapping clustered mutations in cancer reveals APOBEC3 mutagenesis of ecDNA.
Bergstrom EN, Luebeck J, Petljak M, Khandekar A, Barnes M, Zhang T, Steele CD, Pillay N, Landi MT, Bafna V, Mischel PS, Harris RS, Alexandrov LB. Bergstrom EN, et al. Among authors: petljak m. Nature. 2022 Feb;602(7897):510-517. doi: 10.1038/s41586-022-04398-6. Epub 2022 Feb 9. Nature. 2022. PMID: 35140399 Free PMC article.
Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis.
Petljak M, Alexandrov LB, Brammeld JS, Price S, Wedge DC, Grossmann S, Dawson KJ, Ju YS, Iorio F, Tubio JMC, Koh CC, Georgakopoulos-Soares I, Rodríguez-Martín B, Otlu B, O'Meara S, Butler AP, Menzies A, Bhosle SG, Raine K, Jones DR, Teague JW, Beal K, Latimer C, O'Neill L, Zamora J, Anderson E, Patel N, Maddison M, Ng BL, Graham J, Garnett MJ, McDermott U, Nik-Zainal S, Campbell PJ, Stratton MR. Petljak M, et al. Cell. 2019 Mar 7;176(6):1282-1294.e20. doi: 10.1016/j.cell.2019.02.012. Cell. 2019. PMID: 30849372 Free PMC article.
15 results