%0 Journal Article
%A Angus, Lindsay
%A Smid, Marcel
%A Wilting, Saskia M.
%A van Riet, Job
%A Van Hoeck, Arne
%A Nguyen, Luan
%A Nik-Zainal, Serena
%A Steenbruggen, Tessa G.
%A Tjan-Heijnen, Vivianne C. G.
%A Labots, Mariette
%A van Riel, Johanna M. G. H.
%A Bloemendal, Haiko J.
%A Steeghs, Neeltje
%A Lolkema, Martijn P.
%A Voest, Emile E.
%A van de Werken, Harmen J. G.
%A Jager, Agnes
%A Cuppen, Edwin
%A Sleijfer, Stefan
%A Martens, John W. M.
%T The genomic landscape of metastatic breast cancer highlights changes in mutation and signature frequencies
%J Nature genetics
%V 51
%N 10
%@ 1061-4036
%C London
%I Macmillan Publishers Limited, part of Springer Nature
%M DKFZ-2022-01682
%P 1450 - 1458
%D 2019
%X The whole-genome sequencing of prospectively collected tissue biopsies from 442 patients with metastatic breast cancerreveals that, compared to primary breast cancer, tumor mutational burden doubles, the relative contributions of mutationalsignatures shift and the mutation frequency of six known driver genes increases in metastatic breast cancer. Significant associations with pretreatment are also observed. The contribution of mutational signature 17 is significantly enriched in patientspretreated with fluorouracil, taxanes, platinum and/or eribulin, whereas the de novo mutational signature I identified in thisstudy is significantly associated with pretreatment containing platinum-based chemotherapy. Clinically relevant subgroups oftumors are identified, exhibiting either homologous recombination deficiency (13
%9 Journal Article
%R 10.1038/s41588-019-0507-7
%U https://inrepo02.dkfz.de/record/180957