Publications by authors named "Becky Milewski"
Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.
Methods: The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.
Article Synopsis
- The study addresses the limitations of current genetic testing for cardiovascular disease (CVD) by introducing a comprehensive clinical genome test with semi-automated interpretation.
- The test assesses various genetic factors, including monogenic conditions, polygenic risk scores, and pharmacogenomics, using data from a broad genomic database.
- Findings suggest that this approach can effectively identify genetic risks for CVD, providing valuable information for patients and potentially enabling broader public health applications.
Article Synopsis
- The study investigates the association between Lynch syndrome (LS) genes and breast cancer risk in a group of 423 women with specific genetic variants.
- Results indicate that the MSH6 and PMS2 genes are significantly linked to an increased risk of breast cancer, while the MLH1 and MSH2 genes do not show a significant association.
- The findings suggest that genetic testing for MSH6 and PMS2 should be considered for individuals with a history of breast cancer.
Background: Considering the typical rapid progression and high mortality of pancreatic cancer (PC), early detection may lead to an improved outcome. To date, there is no safe, sensitive, and cost-effective screening strategy to detect PC. Currently, screening is focused on individuals at the highest risk of developing PC based on family history.
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