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Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

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, Høberg-Vetti, Hildegunn, Jongmans, Marjolijn C., Neveling, Kornelia, Geurts van Kessel, Ad, Morreau, Hans, Hes, Frederik J., Sijmons, Rolf H., Schackert, Hans K., Ruiz-Ponte, Clara, Dymerska, Dagmara, Lubinski, 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.·2019·Cancer Cell
DOI 10.1016/j.ccell.2018.12.011
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Abstract

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.

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Research works printed but not linked: 27

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Metadata

Authors
Grolleman, J. E., de Voer, R. M., Elsayed, F. A., Nielsen, M., Weren, R. D. A., Palles, C., Ligtenberg, M. J. L., Vos, J. R., ten Broeke, S. W., de Miranda, N. F. C. C., Kuiper, R. A., Kamping, E. J., Jansen, E. A. M., Vink-Börger, M. E., Popp, I., Lang, A., Spier, I., Hüneburg, R., James, P. A., Li, N., Staninova, M., Lindsay, H., Cockburn, D., Spasic-Boskovic, O., Clendenning, M., Sweet, K., Capellá, G., Sjursen, W., Høberg-Vetti, H., Jongmans, M. C., Neveling, K., Geurts van Kessel, A., Morreau, H., Hes, F. J., Sijmons, R. H., Schackert, H. K., Ruiz-Ponte, C., Dymerska, D., Lubinski, J., Rivera, B., Foulkes, W. D., Tomlinson, I. P., Valle, L., Buchanan, D. D., Kenwrick, S., Adlard, J., Dimovski, A. J., Campbell, I. G., Aretz, S., Schindler, D., van Wezel, T., Hoogerbrugge, N., & Kuiper, R. P.
Venue
Cancer Cell
Publisher
Elsevier BV
Published
2019-02
Volume
35
Issue
2
Pages
256-266.e5
ISSN
1535-6108
DOI
10.1016/j.ccell.2018.12.011
Cited by
174
References
6
Language
en
Licence
Funders
  • COST (BM1206, CA17118)
  • Dutch Cancer Society (KUN2015-7740)
  • Sacha Swarttouw-Hijmans Foundation (KUN2014-6666)
  • International Centre for Genetic Engineering and Biotechnology
  • Fondo de Investigacion Sanitaria
  • Schroeder-Kurth Fund
  • National Breast Cancer Foundation
  • Spanish Ministry of Economy and Competitiveness
  • FEDER (SAF2016-80888-R, SAF2015-68016-R)
  • Deutsche Krebshilfe

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CoChat. (2026). Citation check: Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype. https://app.cochat.ai/papers/10.1016/j.ccell.2018.12.011
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Grolleman, J. E., de Voer, R. M., Elsayed, F. A., Nielsen, M., Weren, R. D. A., Palles, C., Ligtenberg, M. J. L., Vos, J. R., ten Broeke, S. W., de Miranda, N. F. C. C., Kuiper, R. A., Kamping, E. J., Jansen, E. A. M., Vink-Börger, M. E., Popp, I., Lang, A., Spier, I., Hüneburg, R., James, P. A., . . . Kuiper, R. P. (2019). Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype. Cancer Cell. https://doi.org/10.1016/j.ccell.2018.12.011