Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 26559593.
- Also identified by DOI 10.1056/NEJMc1506878.
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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.
Medical subject headings
- Carcinoma
- Colorectal Neoplasms
- Deoxyribonuclease (Pyrimidine Dimer)
- Germ-Line Mutation
- Neoplasms, Multiple Primary