The role of molecular genetic research in the diagnosis of hereditary polyposis syndrome
https://doi.org/10.25789/YMJ.2023.82.12
Abstract
To determine the molecular genetic cause of the disease in a patient with colon oligopolyposis, whole exome sequencing was performed. The c.333+5G/C variant was detected in the BMPR1A gene. The functional significance of the found variant was elucidated, which demonstrated exon elongation at the mRNA level. This made it possible to confirm the diagnosis of juvenile polyposis in the patient.
Supporting agencies: The work was performed within the framework of the state assignment "Diagnosis of hereditary forms of colorectal cancer using methods of full-exome sequencing and MLPA (multiplex trial-dependent ligase reaction followed by amplification)"
About the Authors
V. P. Shubin
NMIC of Coloproctology named after A.N. Ryzhykh
Russian Federation
Russian Federation
Moscow
D. Yu. Pikunov
NMIC of Coloproctology named after A.N. Ryzhykh
Russian Federation
Russian Federation
Moscow
A. N. Loginova
NMIC of Coloproctology named after A.N. Ryzhykh
Russian Federation
Russian Federation
Moscow
A. A. Barinov
NMIC of Coloproctology named after A.N. Ryzhykh
Russian Federation
Russian Federation
Moscow
Yu. A. Shelygin
Scientific Research Institute of Coloproctology named after A.N. Ryzhykh; Federal State Budgetary Educational Institution of Higher Professional Education of the Russian Ministry of Health
Russian Federation
Russian Federation
Moscow
A. S. Tsukanov
NMIC of Coloproctology named after A.N. Ryzhykh
Russian Federation
Russian Federation
Moscow
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Review
For citations:
Shubin V.P., Pikunov D.Yu., Loginova A.N., Barinov A.A., Shelygin Yu.A., Tsukanov A.S. The role of molecular genetic research in the diagnosis of hereditary polyposis syndrome. Yakut Medical Journal. 2023;(2):49-52. https://doi.org/10.25789/YMJ.2023.82.12
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