A patient is described with multiple cancers and compound heterozygous mutations in NTHL1, a recently described polyposis gene. The involvement of a second causative mutation is reported.
CITATION STYLE
Rivera, B., Castellsagué, E., Bah, I., van Kempen, L. C., & Foulkes, W. D. (2015). Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors. New England Journal of Medicine, 373(20), 1985–1986. https://doi.org/10.1056/nejmc1506878
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