Germline Mutations and Copy Number Variations in BRCA1/2 of Ovarian Cancer Patients

Activity: Talk or presentation types › Poster presentation

Description

Preferred treatment and prognosis differ for patients with sporadic or hereditary ovarian cancer. Genetic testing is of most importance and is usually done for patients that fit specific criteria. Methods include sequencing of founder variants or next generation sequencing of BRCA1 and BRCA2 exonic regions.. DNA was extracted from 192 ovarian cancer patient blood samples using column based DNA extraction method. BRCA1 and BRCA2 gene exonic regions were sequenced using NGS AmpliSeq for Illumina using BRCA Panel. 93 Samples underwent CNV analysis, positive findings were confirmed using MRC-Holland MLPA with BRCA1 un BRCA2 probemixes.. NGS was performed for 192 samples. 93 samples underwent CNV analysis. Pathogenic/likely pathogenic variants in BRCA1 were detected in 31 sample (16,3%) and 7 samples (3,7%) in BRCA2 gene. 55,3% of detected variants were among 6 most prevalent founder mutations in Latvian population. Type of alteration was determined. CNVs were detected in 2 cases - 1 in BRCA1 and 1 and 1 in BRCA2 gene.. Next generation sequencing might prove to be more cost-effective for pathogenic BRCA1/2 variant detection in ovarian cancer patients. Point mutations ar more common although additional CNV analysis should be done to determine larger deletions.
Period29 Mar 2023
Event titleRSU International Research Conference 2023: Knowledge for Use in Practice
Event typeConference
OrganiserRīga Stradiņš University
LocationRiga, LatviaShow on map
Degree of RecognitionInternational

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