Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2024”

Among the genotyped samples, 104 contained previously detected and confirmed pathogenic or likely pathogenic variants in one of the following cancer-predisposing genes: ABRAXAS, ATM, BLM, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, RAD50, RAD51C, STK11, TP53, and VHL.These samples served as 'positive' controls for analysis using the PolMut1 microarray.Other samples were from individuals with a family history of cancer (HBC/HBOC/HOC, CFA, HNPCC, HPC, HSC, Familial MM syndromes), with approximately 3,800 individuals affected by cancer.Quality control (QC) assessment revealed that genotyping using the PolMut1 microarray passed QC with a sample pass rate of 98.1% and an average QC call rate of 99.6% (thresholds were set at ≥95% and ≥98.5%, respectively).Results from genotyping 'positive' controls showed that the PolMut1 array confirmed 87% of the variants.The remaining 13% will be sequenced to investigate the reasons for non-compliance.Additionally, we plan to verify all detected variants using Sanger sequencing, identify variants that may correlate with cancer incidence and other diseases, and calculate PRS 313 for the Polish population.Ultimately, we aim to establish whether analysis using the "Axiom PolMut1" array has scientific and diagnostic value.Funding Research task carried out within the framework of the programme of the Minister of Science and Higher Education called 'Regional Excellence Initiative' in the years 2019-2022 project number 002/RID/2018/19 amount of funding 12 000 000 PLN.