Journal
CANCER CELL
Volume 35, Issue 2, Pages 256-+Publisher
CELL PRESS
DOI: 10.1016/j.ccell.2018.12.011
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Funding
- COST Actions [BM1206, CA17118]
- Dutch Cancer Society [KUN2015-7740]
- Sacha Swarttouw-Hijmans Foundation
- Dutch Cancer Society (KWF) [KUN2014-6666]
- International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy
- Fondo de Investigacion Sanitaria/Plan Estatal de I + D + I 2013-2016/FEDER [PI14/00230]
- University of Melbourne Research at Melbourne Accelerator Program (R@MAP)
- NHMRC R.D. Wright Career Development
- Schroeder-Kurth Fund
- National Breast Cancer Foundation of Australia
- Cancer Australia
- Spanish Ministry of Economy and Competitiveness
- FEDER funds - a way to build Europe [SAF2016-80888-R, SAF2015-68016-R]
- Deutsche Krebshilfe
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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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