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Massachusetts Medical Society, New England Journal of Medicine, 20(373), p. 1985-1986

DOI: 10.1056/nejmc1506878

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Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors

Journal article published in 2015 by Barbara Rivera ORCID, Ester Castellsagué, Ismaël Bah ORCID, William D. Foulkes ORCID, Léon C. van Kempen ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.