METHOD OF DIFFERENTIATED USE OF DNA SEQUENCING DATA FOR PATIENTS AFTER KIDNEY TRANSPLANTATION Russian patent published in 2023 - IPC C12Q1/68 G01N33/48 

FIELD: biotechnology; medicine; transplantation; oncology.

SUBSTANCE: invention can be used to diagnose hereditary forms of cancer of the reproductive system in patients after transplantation. In patients after kidney transplantation, not earlier than 60 days later, venous blood is taken, then DNA is isolated from the obtained samples; DNA libraries are formed; then DNA sequencing, which is sequencing of human protein-coding genes by the method of paired-end reads using targeted enrichment of genomic DNA is carried out. Identification of deviations is carried out by identifying pathogenic mutations in the BRCA1 and BRIP 1 genes, based on bioinformatic analysis of DNA sequencing data. In case of detection of a variant not previously described in the literature in the heterozygous state in the 2nd exon (out of 20) in the BRIP1 gene, leading to the replacement of the amino acid lysine for asparagine at position 14 (p.Lys14Asn, missense-type mutation), predisposition to breast cancer (114480; AD), DNA change (hg19) transcript change and protein change -chr17:g.59938859C>A ENST00000259008.2: c.42G>T ENSP00000259008.2: p.Lys14Asn, it is necessary to compare the result with the clinical data of the oncologist and geneticist. In case of detection of the previously described variant (rs80357906) in the heterozygous state in the 20th exon of the BRCA1 gene, leading to a frameshift starting from codon 1777 and premature termination of protein synthesis (p.Gln1777ProfsTer74, freeshift type mutation), being absolutely pathogenic in the associated inheritance of diseases of hereditary breast and ovarian cancer, type 1 (604370; AD), it is necessary to consult an oncologist and transplantologist to resolve the issue of preventive surgical treatment and correction of immunosuppressive therapy.

EFFECT: using a method of differentiated use of DNA sequencing data for patients after kidney transplantation.

1 cl, 2 ex