Biallelic NTHL1 mutations in a woman with multiple primary tumors: To the editor

New England Journal of Medicine

Volumn 373, Issue 20, 2015, Pages 1985-1986

  Rivera, Barbara ^a   Castellsagué, Ester ^a   Bah, Ismaël ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; DEOXYRIBONUCLEASE (PYRIMIDINE DIMER); NTHL1 PROTEIN, HUMAN;

ADENOCARCINOMA; ADULT; ALLELE; BASAL CELL CARCINOMA; BLADDER CARCINOMA; BREAST CARCINOMA; CANADIAN; CASE REPORT; COLON ADENOMA; COLORECTAL ADENOMA; FEMALE; GENE MUTATION; GERMLINE MUTATION; HEAD AND NECK SQUAMOUS CELL CARCINOMA; HUMAN; LETTER; MENINGIOMA; MISMATCH REPAIR; MULTIPLE CANCER; MUYTH GENE; NEVUS; NTHL1 GENE; ONCOGENE; PRIMARY TUMOR; PRIORITY JOURNAL; PTEN GENE; SEBORRHEIC KERATOSIS; TUMOR SUPPRESSOR GENE; WELL DIFFERENTIATED ADENOCARCINOMA; CARCINOMA; COLORECTAL TUMOR; GENETICS; MALE; PEDIGREE; PHENOTYPE;

ADULT; ALLELES; CARCINOMA; COLORECTAL NEOPLASMS; DEOXYRIBONUCLEASE (PYRIMIDINE DIMER); FEMALE; GERM-LINE MUTATION; HUMANS; MALE; NEOPLASMS, MULTIPLE PRIMARY; PEDIGREE; PHENOTYPE;

EID: 84946827930     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMc1506878     Document Type: Letter

References (5)

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4. Weren RD, Ligtenberg MJ, Kets CM, et al. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nat Genet 2015;47: 668-71.
5. Hafner C, Toll A, Fernández-Casado A, et al. Multiple oncogenic mutations and clonal relationship in spatially distinct benign human epidermal tumors. Proc Natl Acad Sci U S A 2010; 107:20780-5.