Matthew T. Kucera

Abstract PD4-05: Partially functional (hypomorphic) missense variants in BRCA2 are reduced penetrance pathogenic variants

H. Huang, C. Hu, J Na, Matthew T. Kucera et autres

Abstract Background: BRCA2 variants with partially aberrant RNA splicing have been associated with a relatively lower breast cancer risk (reduced penetrance) relative to canonical pathogenic variants. However, the existence of partial loss of function (hypomorphic) missense variants, conferring reduced penetrance, is less …

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Abstract PS3-02-30 : Ancestry-specific prevalence of pathogenic variants among patients with breast cancer who do not meet guidelines for genetic testing

Ryan Bernhisel, Matthew T. Kucera, S. Cummings, Edith Smith et autres

Abstract Background Patients with breast cancer (BC) who harbor germline pathogenic variants (PVs) in hereditary cancer genes have improved survival when their surgical and treatment decisions are tailored to their specific genetic alterations. Additionally, the identification of germline PVs is crucial for …

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Abstract PS3-01-03: Interactions between polygenic variants and clinical factors as predictors of breast cancer risk in women of self-reported Black/African ancestry

Timothy C. Simmons, E. Hughes, Matthew T. Kucera, Alexander Gutin

Abstract Background Polygenic risk scores (PRSs) combine information from single-nucleotide polymorphisms (SNPs) across the genome to explain a substantial portion of genetic breast cancer (BC) susceptibility. In previous studies, a multiple-ancestry PRS (MA-385) based on 56 ancestry-informative and 329 BC-associated SNPs was …

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Meta-analysis of Response and Remission Outcomes With a Weighted Multigene Pharmacogenomic Test for Adults With Depression

Renee E. Albers, M Dyer, Matthew T. Kucera, Daniel T. Hain et autres

PURPOSE/BACKGROUND: Multiple meta-analyses have suggested that pharmacogenomic (PGx) testing may be a valuable tool to improve clinical outcomes for patients with major depressive disorder (MDD) who have failed at least one treatment. However, these meta-analyses included studies with different PGx tests and …

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Abstract P3-02-10: Evaluation of a polygenic risk score as a predictor of breast cancer, triple-negative breast cancer, and early-onset disease in Hispanic women

Holly Jane Pederson, Matthew T. Kucera, Eudora Hu, Brooke Hullinger et autres

Abstract Background: Hispanic women in the U.S. have a lower incidence of breast cancer (BC) when compared to non-Hispanic white (NHW) women. However, Hispanic women diagnosed with BC tend to be younger, have more advanced disease at presentation, and have a higher …

Estimated prevalence of pathogenic variants in patients with breast, colon, and/or endometrial cancer who do not meet guidelines for genetic testing.

Ryan Bernhisel, Matthew T. Kucera, Edith W. Smith, Stephanie Rieder et autres

10577 Background: Patients with cancer who carry pathogenic variants (PVs) in hereditary cancer genes often have improved outcomes when their treatment is guided by their germline genetics. Identifying germline PVs also allows cascade testing of family members to pursue cancer prevention interventions. …

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Association of an ancestry-specific variant near the ESR1 gene with cancer risk and breast density in women of self-reported Hispanic ancestry.

Elisha Hughes, Allison W. Kurian, Eudora Hu, Matthew T. Kucera et autres

10513 Background: A single-nucleotide polymorphism (SNP), rs140068132, located in the 6q25 region near the ESR1 gene, is common in self-reported Hispanic women but rare or absent in other populations. Previous studies have shown that rs140068132 is associated with a significantly reduced risk …

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Validation of a clinical breast cancer risk assessment tool combining a polygenic score for all ancestries with traditional risk factors

Brent Mabey, Elisha Hughes, Matthew T. Kucera, Timothy C. Simmons et autres

PURPOSE: We previously described a combined risk score (CRS) that integrates a multiple-ancestry polygenic risk score (MA-PRS) with the Tyrer-Cuzick (TC) model to assess breast cancer (BC) risk. Here, we present a longitudinal validation of CRS in a real-world cohort. METHODS: This …

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Evaluation of a polygenic risk score as a predictor of early onset triple-negative breast cancer in Black women.

Holly Jane Pederson, Eudora Hu, Matthew T. Kucera, Brooke Hullinger et autres

10501 Background: Black women in the U.S. often develop early, biologically aggressive breast cancer (BC). Triple-negative breast cancer (TNBC) is a particularly aggressive type that occurs more frequently in Black than white women and often develops before recommended regular screening. More accurate …

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Improving a polygenic risk score (PRS) for breast cancer (BC) risk assessment in diverse ancestries.

Timothy C. Simmons, Elisha Hughes, Dmitry Pruss, Matthew T. Kucera et autres

10533 Background: Accurate BC risk assessment is essential to identify women for whom screening and preventive interventions may be lifesaving. Incorporation of PRS into clinical models can improve risk prediction, but most PRS have shown suboptimal performance among non-Europeans. We previously described …

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Abstract PS10-07: A second-generation polygenic risk score (PRS) based on genetic ancestry improves breast cancer (BC) risk prediction for all ancestries

Timothy C. Simmons, Elisha Hughes, Dmitry Pruss, Matthew T. Kucera et autres

Abstract Background: Common genetic variants, mainly single-nucleotide polymorphisms (SNPs) explain substantial genetic susceptibility to BC. PRS have been developed to quantify the combined effects of BC-associated SNPs, providing important information about BC risk. Historically, genome-wide association studies have been conducted in predominantly …

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P063: A second-generation polygenic risk score (PRS) based on genetic ancestry improves breast cancer (BC) risk prediction for all ancestries*

Timothy C. Simmons, Elisha Hughes, Dmitry Pruss, Matthew T. Kucera et autres

Common genetic variants, mainly single nucleotide polymorphisms (SNPs), explain substantial genetic susceptibility to BC. PRS have been developed to quantify the combined effects of BC-associated SNPs, providing important information about BC risk. Historically, however, the genome-wide association studies on which PRS are …

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