Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors.

Rivera, Barbara; Castellsagué, Ester; Bah, Ismaël; van Kempen, Léon C; Foulkes, William D · N Engl J Med · 2015

case_report · Level V

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Abstract

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.

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