Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies.

Purpose: Recruit and sequence breast cancer subjects in Guatemalan and US Hispanic populations. Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer.

Methods: We used targeted gene sequencing to identify pathogenic variants in 19 familial breast cancer susceptibility genes in DNA from unselected Hispanic breast cancer cases in the US and Guatemala.

Changes in Patient Perceptions of the Provider Most Involved in Care During COVID-19 and Corresponding Effects on Patient Trust.

During COVID-19 routine clinical operations were disrupted, including limits on the types of providers allowed to perform in-person care and frequency of times they could enter a patient's room. Whether these changes affected patients' trust in the care they received during hospitalization is unknown. Hospitalized patients on the general medicine service were called after discharge and asked to identify who (attending, resident, etc.

Preconception, Interconception, and reproductive health screening tools: A systematic review.

Objective: To identify and describe the standardized interconception and preconception screening tools for reproductive health needs that are applicable in general outpatient clinical practice.

Data Sources And Study Setting: This systematic review identifies research on pregnancy intention screening and counseling tools, and standardized approaches to preconception and interconception care. We focus on tools designed for clinical settings, but also include research tools with potential for clinical implementation.

Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.

Purpose: Mutations in hereditary breast cancer genes play an important role in the risk for cancer.

Methods: Cancer susceptibility genes were sequenced in 664 unselected breast cancer cases from Guatemala. Variants were annotated with ClinVar and VarSome.

In silico analysis of histone H3 gene expression during human brain development.

Precise regulation of chromatin structure is essential for proper development of higher eukaryotes, and methylation of histone H3 at lysine-27 (H3K27) by the Polycomb Repressive Complex 2 (PRC2) component EZH2 has emerged as an important and conserved mechanism to ensure silencing of developmentally regulated genes. Recurrent mutations within the histone H3 genes H3F3A and HIST1H3B that convert K27 to methionine (H3K27M) and disrupt the global H3K27 methylation landscape and PRC2-dependent silencing, have recently been identified in pediatric high-grade gliomas including Diffuse Intrinsic Pontine Glioma (DIPG) and Glioblastoma multiforme (GBM; Type IV glioma). These findings have generated renewed interest in the dynamics of histone genes and their expression, which have been difficult to study due to redundancy and high sequence homology within the H3 gene family.