@article{0b8417e93f314acdbad383ef1ffd1ec4,
title = "Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors",
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.",
keywords = "Adult, Alleles, Carcinoma/genetics, Colorectal Neoplasms/genetics, Deoxyribonuclease (Pyrimidine Dimer)/genetics, Female, Germ-Line Mutation, Humans, Male, Neoplasms, Multiple Primary/genetics, Pedigree, Phenotype",
author = "Barbara Rivera and Ester Castellsagu{\'e} and Isma{\"e}l Bah and {van Kempen}, {L{\'e}on C} and Foulkes, {William D}",
year = "2015",
month = nov,
day = "12",
doi = "10.1056/NEJMc1506878",
language = "English",
volume = "373",
pages = "1985--1986",
journal = "New England Journal of Medicine",
issn = "0028-4793",
publisher = "MASSACHUSETTS MEDICAL SOC",
number = "20",
}