A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis

Mays Altaraihi; Anne-Marie Gerdes; Karin Wadt

doi:10.1038/s41439-019-0077-3

A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis

Hum Genome Var. 2019 Oct 10:6:46. doi: 10.1038/s41439-019-0077-3. eCollection 2019.

Authors

Mays Altaraihi¹, Anne-Marie Gerdes¹, Karin Wadt¹

Affiliation

¹ Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

Abstract

A new family with NTHL1-associated polyposis (NAP) is described, involving a 58-year-old male affected with >100 colorectal polyps and a 55-year-old female sibling with nine colorectal polyps. The female was also diagnosed with a thyroid adenoma at age 40. Significantly, no malignant neoplasms have been detected in this family, which is important to further delineate the clinical phenotype related to NAP. A review of previously reported obligate heterozygous carriers of NTHL1 variants showed two patients affected with neoplasms at <55 years of age, generating a study to outline the phenotypic spectrum in patients with heterozygous pathogenic NTHL1 variants relevant.

Keywords: Cancer genetics; Colon cancer.