Neoplasma journal published an article on the study of molecular and genetic causes of familial adenomatous polyposis
Neoplasma (Q4, IF1.771) published the results of a joint work by researchers of FSBI RCMG and A.N. Ryzhykh National Medical Research Center of Coloproctology.
The study analyses molecular and genetic causes of familial adenomatous polyposis. According to the findings, incidence of large deletions in APC gene among Russian patients with familial adenomatous polyposis reached 4.8%. Therefore, a comprehensive approach to mutations search in this gene is required, combining the study of its nucleotide sequence with quantitative analysis methods.
The deletion of promoters B, A, and 5'-UTR of the APC gene region was not described in the literature earlier. In two Russian families with this deletion, the tendency for decreasing the age of disease manifestation in each next generation was identified, in contrast to the previous one.
Identification of large deletions in the APC gene in Russian patients with familial adenomatous polyposis
A S Tsukanov , V V Zabnenkova, V P Shubin, D Y Pikunov, T A Savelyeva , A M Kuzminov, S A Frolov, A V Polyakov, Y A Shelygin
PMID: 32701358