Publications by authors named "Marcela Kosarova"

Article Synopsis
  • Monoallelic germline pathogenic variants in certain Fanconi anemia genes are known to increase breast and ovarian cancer risk, but the effects of variants in FANCG/XRCC9 remain unclear.
  • Researchers found that the frequency of truncating variants in FANCG did not significantly differ between breast cancer, ovarian cancer patients, and controls.
  • The study concludes that heterozygous germline FANCG variants are unlikely to play a role in developing breast or ovarian cancer.
View Article and Find Full Text PDF

Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature stop codon (p.

View Article and Find Full Text PDF

Endometrial cancer (EC) is the most common gynecological malignancy in developed countries. The present study aimed to determine the frequency of germline pathogenic variants (PV) in patients with EC. In this multicenter retrospective cohort study, germline genetic testing (GGT) was performed in 527 patients with EC using a next generation sequencing panel targeting 226 genes, including 5 Lynch syndrome (LS) and 14 hereditary breast and ovarian cancer (HBOC) predisposition genes, and 207 candidate predisposition genes.

View Article and Find Full Text PDF

Ovarian cancer (OC) is the deadliest gynecologic malignancy with a substantial proportion of hereditary cases and a frequent association with breast cancer (BC). Genetic testing facilitates treatment and preventive strategies reducing OC mortality in mutation carriers. However, the prevalence of germline mutations varies among populations and many rarely mutated OC predisposition genes remain to be identified.

View Article and Find Full Text PDF

Atopy is a predisposition to hyperproduction of immunoglobulin E (IgE) against common environmental allergens. It is often associated with development of allergic diseases such as asthma, rhinitis, and dermatitis. Production of IgE is influenced by genetic and environmental factors.

View Article and Find Full Text PDF