Related Experiment Video
Updated: Feb 15, 2026
07:15
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
11.4K
Genetic cancer risk knowledge among Mexican pathogenic variant carriers
Alejandro Aranda-Gutierrez1, Cynthia Villarreal-Garza2, Dione Aguilar-Y-Mendez2
1Departament of Hematology and Oncology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico, Mexico.
Patient Education and Counseling
|February 13, 2026
Summary
Mexican cancer patients with pathogenic variants show moderate genetic knowledge but gaps in understanding. Higher education improves knowledge, yet doesn't increase uptake of risk-reducing surgery or cascade testing.
Area of Science:
- Genetics
- Oncology
- Public Health
Background:
- Genetic cancer risk assessment (GCRA) is crucial for individuals with cancer-associated pathogenic variants (PVs).
- Understanding patient knowledge is key to effective genetic counseling and intervention uptake.
Purpose of the Study:
- To evaluate genetic cancer risk knowledge in Mexican PV carriers using the KnowGene questionnaire.
- To determine if this knowledge correlates with uptake of risk-reducing surgery (RRS) or cascade testing (CT).
Main Methods:
- Cross-sectional study of 261 adult PV carriers in Mexico post-GCRA.
- Utilized the Spanish KnowGene questionnaire assessing inheritance, interpretation, and implications.
- Analyzed associations between knowledge, demographics, and uptake of RRS/CT.
Main Results:
- Mean knowledge score was 9.42/16, with notable gaps in inheritance and variant interpretation.
- Higher education was independently linked to greater genetic knowledge (β = 1.92, p < 0.001).
- No significant association found between knowledge scores and RRS or CT uptake.
Conclusions:
- Mexican PV carriers possess moderate genetic knowledge post-GCRA, with specific areas needing improvement.
- Educational attainment is a key factor influencing knowledge, but not intervention uptake.
- GCRA programs require enhanced communication strategies to overcome barriers and improve decision-making for preventive actions.
Related Concept Videos
01:27Principles of Pharmacogenetics: Types of Genetic Variants
10
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
10
01:24Electron Carriers
92.2K
Electron carriers can be thought of as electron shuttles. These compounds can easily accept electrons (i.e., be reduced) or lose them (i.e., be oxidized). They play an essential role in energy production because cellular respiration is contingent on the flow of electrons.
Over the many stages of cellular respiration, glucose breaks down into carbon dioxide and water. Electron carriers pick up electrons lost by glucose in these reactions, temporarily storing and releasing them into the electron...
Over the many stages of cellular respiration, glucose breaks down into carbon dioxide and water. Electron carriers pick up electrons lost by glucose in these reactions, temporarily storing and releasing them into the electron...
92.2K
02:30Histone Variants at the Centromere
5.1K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
5.1K
01:21Carrier Transport
1.0K
The generation of electrical current in semiconductors is fundamentally driven by two mechanisms: drift and diffusion. These processes are essential for the functionality and performance of semiconductor-based devices.
Drift Current:
The drift of charge carriers is started by an external electric field (E). Charged particles, such as electrons and holes, experience an acceleration between collisions with lattice atoms. For electrons, this results in a drift velocity (vd) given by:
Drift Current:
The drift of charge carriers is started by an external electric field (E). Charged particles, such as electrons and holes, experience an acceleration between collisions with lattice atoms. For electrons, this results in a drift velocity (vd) given by:
1.0K
01:12Relative Risk
2.2K
Relative risk (RR) is a statistical measure commonly used in epidemiology to compare the likelihood of a particular event occurring between two groups. This metric is important for evaluating the relationship between exposure to a specific risk factor and the probability of a particular outcome. It plays a crucial role in medical research, public health studies, and risk assessment. Relative risk quantifies how much more (or less) likely an event is to occur in an exposed group compared to an...
2.2K
01:22Carrier Generation and Recombination
1.3K
Carrier generation is the process by which electron-hole pairs (EHPs) are created within the semiconductor. In direct-bandgap semiconductors, such as gallium arsenide (GaAs), this occurs efficiently when energy absorption prompts valence electrons to leap into the conduction band, leaving behind holes.
This process is given by the generation rate G and is efficient due to the conservation of momentum between the valence band maximum and conduction band minimum.
Indirect generation involves an...
This process is given by the generation rate G and is efficient due to the conservation of momentum between the valence band maximum and conduction band minimum.
Indirect generation involves an...
1.3K