The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results

The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results

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, incl...

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Bibliographic Details
Main Authors: Baranova, E. (Author), Belenikin, M. (Author), Bodunova, N. (Author), Byakhova, M. (Author), Chernevskiy, D. (Author), Danishevich, A. (Author), Gadzhieva, S. (Author), Galkin, V. (Author), Khatkov, I. (Author), Krinitsina, A. (Author), Makarova, M. (Author), Nemtsova, M. (Author), Nikolaev, S. (Author), Sagaydak, O. (Author), Semenova, A. (Author), Vorontsova, M. (Author), Zhukova, L. (Author)
Format: Article
Language:English
Published: MDPI 2023
Subjects:
CFTR
cystic fibrosis
hereditary cancer predisposition syndrome
Russian cohort of patients
the frequency of heterozygous carriage
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