Identifying Genetic Factors Associated with Breast or Ovarian Cancer Risk in BRCA1 Pathogenic Variant Carriers

Activity: Talk or presentation types › Oral presentation

Description

Breast and/or ovarian cancer risk for germline BRCA1 pathogenic variant carriers differ by individual and is affected by genetic factors. The aim of this study is to explore genetic factors that might modulate breast and/or ovarian cancer risk in BRCA1 pathogenic variant carriers.. We selected 406 carriers of one of the most common BRCA1 pathogenic variants (c.4035del or c.5266dup) in the clinical cohort of Latvia. This cohort consisted of 171 breast and 121 ovarian cancer patients, respectively, and 114 controls. We performed a genome-wide association analysis in these individuals, followed by functional annotations of the most significantly associated single nucleotide variants (SNVs).. In breast cancer patients, the most significantly associated SNV was rs2609813 (P = 2.33 x 10-7, OR = 0.28). The variant is intronic in the FAM107B protein coding gene. The second most significant breast cancer associated SNV was rs4688094 (P = 7.76 x 10-7, OR = 0.38) and the most significant ovarian cancer SNV was rs79732499 (P = 1.38 x 10-7, OR = 0.00031), and both are located in the non-coding genome.. The results of this study can be used as preliminary data for a more comprehensive study and might contribute to customized polygenic risk score development for BRCA1 pathogenic variant carriers.
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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