• N. Engl. J. Med. · Nov 2015

    Letter Case Reports

    Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors.

    • Barbara Rivera, Ester Castellsagué, Ismaël Bah, Léon C van Kempen, and William D Foulkes.
    • McGill University, Montreal, QC, Canada barbara.riverap@gmail.com.
    • N. Engl. J. Med. 2015 Nov 12;373(20):1985-6.

    AbstractA 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.

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