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.
MeSH terms
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Adult
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Alleles
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Carcinoma / genetics*
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Colorectal Neoplasms / genetics*
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Deoxyribonuclease (Pyrimidine Dimer) / genetics*
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Female
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Germ-Line Mutation*
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Humans
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Male
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Neoplasms, Multiple Primary / genetics*
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Pedigree
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Phenotype
Substances
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Deoxyribonuclease (Pyrimidine Dimer)
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NTHL1 protein, human