Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors.

Barbara Rivera,Ester Castellsagué,Ismaël Bah,Léon C van Kempen,William D Foulkes

NEW ENGLAND JOURNAL OF MEDICINE（2015）

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摘要

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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