The New England journal of medicine
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A 72-year-old woman presented with flank pain, proteinuria, and a new kidney mass. Magnetic resonance imaging of the kidney revealed a complex, solid mass (3 cm x 2.9 cm x 2.9 cm) in the lower pole of the right kidney. Diagnostic tests were performed.
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Letter Case Reports
Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors.
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.