دورية أكاديمية
Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype
| العنوان: | Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype |
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| المؤلفون: | Grolleman, Judith E., de Voer, Richarda M., Elsayed, Fadwa A., Nielsen, Maartje, Weren, Robbert D.A., Palles, Claire, Ligtenberg, Marjolijn J.L., Vos, Janet R., ten Broeke, Sanne W., de Miranda, Noel F.C.C., Kuiper, Renske A., Kamping, Eveline J., Jansen, Erik A.M., Vink-Börger, M. Elisa, Popp, Isabell, Lang, Alois, Spier, Isabel, Hüneburg, Robert, James, Paul A., Li, Na, Staninova, Marija, Lindsay, Helen, Cockburn, David, Spasic-Boskovic, Olivera, Clendenning, Mark, Sweet, Kevin, Capellá, Gabriel, Sjursen, Wenche, Vetti, Hildegunn Høberg, Jongmans, Marjolijn C., Neveling, Kornelia, van Kessel, Ad Geurts, Morreau, Hans, Hes, Frederik J., Sijmons, Rolf H., Schackert, Hans K., Ruiz-Ponte, Clara, Dymerska, Dagmara, Lubiñski, Jan, Rivera, Barbara, Foulkes, William D., Tomlinson, Ian P., Valle, Laura, Buchanan, Daniel D., Kenwrick, Sue, Adlard, Julian, Dimovski, Aleksandar J., Campbell, Ian G., Aretz, Stefan, Schindler, Detlev, van Wezel, Tom, Hoogerbrugge, Nicoline, Kuiper, Roland P. |
| المصدر: | 256-266.e5 ; 35 ; Cancer Cell ; 2 |
| بيانات النشر: | Elsevier |
| سنة النشر: | 2019 |
| المجموعة: | NTNU Open Archive (Norges teknisk-naturvitenskapelige universitet / Norwegian University of Science and Technology) |
| الوصف: | Biallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown. We describe 29 individuals carrying biallelic germline NTHL1 mutations from 17 families, of which 26 developed one (n = 10) or multiple (n = 16) malignancies in 14 different tissues. An unexpected high breast cancer incidence was observed in female carriers (60%). Mutational signature analysis of 14 tumors from 7 organs revealed that NTHL1 deficiency underlies the main mutational process in all but one of the tumors (93%). These results reveal NTHL1 as a multi-tumor predisposition gene with a high lifetime risk for extracolonic cancers and a typical mutational signature observed across tumor types, which can assist in the recognition of this syndrome. ; publishedVersion ; © 2018 Elsevier Inc. Under an Elsevier user license. https://www.elsevier.com/about/policies/open-access-licenses/elsevier-user-licenseTest |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1535-6108 |
| العلاقة: | Cancer Cell. 2019, 35 (2), 256-266.e5.; urn:issn:1535-6108; https://hdl.handle.net/11250/2651034Test; https://doi.org/10.1016/j.ccell.2018.12.011Test; cristin:1693077 |
| DOI: | 10.1016/j.ccell.2018.12.011 |
| الإتاحة: | https://doi.org/10.1016/j.ccell.2018.12.011Test https://hdl.handle.net/11250/2651034Test |
| رقم الانضمام: | edsbas.A1ED7D22 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 15356108 |
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| DOI: | 10.1016/j.ccell.2018.12.011 |