The vast majority of (BRCA1/2) genetic testing has been conducted in White women, in particular Ashkenazi Jewish women, with limited information available for Black and Hispanic women. Understanding perspectives of those who are underserved is critical to developing interventions to support inclusive approaches to genetic testing. This qualitative study explored knowledge and perceptions of BRCA1/2 genetic testing among diverse women in South Florida. We also explored participants' information needs. Convenience sampling was used to recruit a diverse group of 15 women with a personal or family history of breast cancer. We conducted semi-structured interviews and used grounded theory method to analyze the data. Five themes were identified: (1) lacking awareness and knowledge of BRCA1/2 genetic testing and results among Black women, (2) perceiving BRCA1/2 genetic testing as beneficial to themselves and a way to be proactive about cancer risk, (3) perceiving BRCA1/2 genetic testing as beneficial to family members, (4) interactions with healthcare providers and the healthcare system that shape genetic testing experiences, and (5) information needs for reducing cancer risk and promoting health. Our findings suggest that diverse underserved women perceived genetic testing as beneficial to themselves and family members. Women needed more information about the BRCA genes and genetic testing, prevention strategies, and the latest breast cancer research. Healthcare providers, particularly nurse practitioners, need to engage diverse high-risk women in discussions about their cancer risk, address unmet information needs, and, in particular, educate Black women about the benefits of pursuing genetic testing.
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http://dx.doi.org/10.1007/s12687-021-00507-6 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Department of Biology, University of Kentucky, Lexington, KY 40508.
Identifying why complex tissue regeneration is present or absent in specific vertebrate lineages has remained elusive. One also wonders whether the isolated examples where regeneration is observed represent cases of convergent evolution or are instead the product of phylogenetic inertia from a common ancestral program. Testing alternative hypotheses to identify genetic regulation, cell states, and tissue physiology that explain how regenerative healing emerges in some species requires sampling multiple species among which there is variation in regenerative ability across a phylogenetic framework.
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January 2025
Department of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America.
Understanding the genetic regulatory mechanisms of gene expression is an ongoing challenge. Genetic variants that are associated with expression levels are readily identified when they are proximal to the gene (i.e.
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January 2025
Department of Endoscopy, The Fourth Hospital of Hebei Medical University, Shijiazhuang, China.
This study enrolled 10 patients diagnosed with premalignant lesions and early-stage gastric cardia adenocarcinoma (GCA), confirmed through endoscopic examination. These patients were subjected to next-generation sequencing (NGS) using a customized 1123-gene panel to identify genetic alterations and signaling pathways. The results were compared to stage IIB to IV GCA samples from the cancer genome atlas (TCGA) and a cohort of Hong Kong patients.
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January 2025
Department of Pathology, Deyang Peoples' Hospital, Deyang, Sichuan Province, China.
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Epilepsy Center, Children's Hospital Affiliated to Shandong University, Jinan, China.
Rationale: Developmental and epileptic encephalopathy (DEE) defines a group of severe and heterogeneous neurodevelopmental disorders. The voltage-gated potassium channel subfamily 2 voltage-gated potassium channel α subunit encoded by the KCNB1 gene is essential for neuronal excitability. Previous studies have shown that KCNB1 variants can cause DEE.
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