Article
The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.
International journal of molecular sciences - 27 Apr 2023
Makarova Maria, Nemtsova Marina, Danishevich Anastasiia, Chernevskiy Denis, Belenikin Maxim, Krinitsina Anastasiia, Baranova Elena, Sagaydak Olesya, Vorontsova Maria, Khatkov Igor, Zhukova Lyudmila, Bodunova Natalia, Nikolaev Sergey, Byakhova Mariya, Semenova Anna, Galkin Vsevolod, Gadzhieva Saida
Abstract excerpt
More than 275 million people in the world are carriers of a heterozygous mutation of the CFTR gene, associated with cystic fibrosis, the most common autosomal recessive disease among Caucasians. Some recent studies assessed the association between carriers of CFTR variants and some pathologies, including cancer risk. The aim of this study is to analyze the landscape of germline pathogenic heterozygous CFTR...
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