Article
A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres.
Thyroid : official journal of the American Thyroid Association - 1 Feb 2020
He Huiling, Li Wei, Comiskey Daniel F, Liyanarachchi Sandya, Nieminen Taina T, Wang Yanqiang, DeLap Katherine E, Brock Pamela, de la Chapelle Albert
Abstract excerpt
Background: Our genome sequencing analysis revealed a frameshift mutation in the shelterin gene TINF2 in a large family with individuals affected with papillary thyroid carcinoma (PTC) and melanoma. Here, we further characterized the mutation and screened for coding variants in the 6 shelterin genes in 24 families. Methods: Sanger sequencing was performed to screen for the TINF2 mutation in the key family....
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