FIELD: biotechnology.
SUBSTANCE: described is a method for diagnosing the monogenic disease familial breast cancer in settings of pre-implantation genetic testing (PGT). For this purpose, the presence of the pathogenic variant NC_000017.10:g.41209082dup (NM_007294.4:c.5266dupC, p.GIn1756fs) is diagnosed in the BRCA1 gene for use within the PGT of the monogenic disease familial breast cancer with the possibility of direct and indirect diagnosis.
EFFECT: high specificity and effectiveness were revealed within the framework of the method, as well as versatility with respect to various biological samples: single cells, product of genome-wide amplification, total DNA isolated from different tissues.
1 cl, 1 ex
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