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HRR-SCREENING

HRR-SCREENING

The kit is designed to detect 16 germline mutations in the HRR genes and is used in screening for predisposition to breast, ovarian, prostate, pancreatic, and stomach cancer.

Advantages

  • Beside the 8 most common mutations, the kit identifies 8 additional mutations, widely spread in Eurasia*

*Information on the frequency of hereditary mutations in the genes of the DNA repair system (homologous recombination repair, HRR) is taken from the oncoBRCA database, obtained as part of the “Hereditary Syndromes in the Russian Federation” project, https://oncobrca.ru/

Detection method
Real-time PCR (melting profile)
Analysis type
Qualitative
Mutations detection
16
BRCA1
c.5266dupC, c.181T>G, c.5251C>T, c.4035delA, c.5161C>T, c.4675G>A, c.68_69del, c.3700_3704del, c.1961delA
BRCA2
c.3749dupA, c.961_962insAA
CHEK2
c.470T>C, c.1100delC, c.444+1G>A, c.893_897del
PALB2
c.1592delT
Samples
Peripheral blood, buccal scraping
Analytical sensitivity
10 copies of the BRCA1, BRCA2, CHEK2, PALB2 genes per 1 µl of the DNA solution
Sensirtivity
100 % (with confidence interval of 95 %)
Specificity
100 % (with confidence interval of 95 %)
Time per 1 analysis
90 minutes
Number of reactions
48
Equipment
CFX96, DTPrime, Rotor-Gene Q, QuantStudio 5
Transportation and
Storage conditions
-16 …-24 °C 12 months
+2 …+8 °C 30 days
+15 …+25 °C 5 days
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SUBMIT AND APPLICATION

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