Article
Variants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma.
Genes, chromosomes & cancer - 1 Jun 2014
Wójcicka Anna, Czetwertyńska Małgorzata, Świerniak Michał, Długosińska Joanna, Maciąg Monika, Czajka Agnieszka, Dymecka Kinga, Kubiak Anna, Kot Adam, Płoski Rafał, de la Chapelle Albert, Jażdżewski Krystian
Abstract excerpt
The risk of developing papillary thyroid carcinoma (PTC), the most frequent form of thyroid malignancy, is elevated up to 8.6-fold in first-degree relatives of PTC patients. The familial risk could be explained by high-penetrance mutations in yet unidentified genes, or polygenic action of low-penetrance alleles. Since the DNA-damaging exposure to ionizing radiation is a known risk factor for thyroid cancer,...
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