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Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients. | LitMetric

AI Article Synopsis

  • Constitutional loss-of-function variants in tumor suppressor genes significantly raise the risk of ovarian cancer (OC), but only about 15% of OC cases have these variants, highlighting the need to identify other susceptibility genes.
  • In a study of 333 Polish women with OC, about 21% carried pathogenic variants in BRCA1 or BRCA2, with specific mutations being the most common.
  • Additionally, around 6% had pathogenic variants in other cancer-related genes, suggesting the presence of more OC-associated genes that could enhance personalized risk assessments for individuals.

Article Abstract

Constitutional loss-of-function pathogenic variants in the tumor suppressor genes and are widely associated with an elevated risk of ovarian cancer (OC). As only ~15% of OC individuals carry the pathogenic variants, the identification of other potential OC-susceptibility genes is of great clinical importance. Here, we established the prevalence and spectrum of the germline pathogenic variants in the and 23 other cancer-related genes in a large Polish population of 333 unselected OC cases. Approximately 21% of cases (71/333) carried the pathogenic or likely pathogenic variants, with c.5266dup (p.Gln1756Profs*74) and c.3700_3704del (p.Val1234Glnfs*8) being the most prevalent. Additionally, ~6% of women (20/333) were carriers of the pathogenic or likely pathogenic variants in other cancer-related genes, with and reported as the most frequently mutated, accounting for 1.8% (6/333) and 1.2% (4/333) of cases, respectively. We also found ten pathogenic or likely pathogenic variants in other genes: 1/333 in , 1/333 in , 2/333 in , 1/333 in , 1/333 in , 2/333 in , 1/333 in and 1/333 in , accounting for 50% of all detected variants in moderate- and low-penetrant genes. Our findings confirmed the presence of the additional OC-associated genes in the Polish population that may improve the personalized risk assessment of these individuals.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6266089PMC
http://dx.doi.org/10.3390/cancers10110442DOI Listing

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