myRisk terms Flashcards
Autosomal Dominant
A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. 50% chance of first-degree relative also having the mutant gene
Autosomal Recessive
A pattern of inheritance in which two copies of an abnormal gene must be present in order for the disease or trait to develop. If both parents carry a change in a single copy of the gene change, there is a 25% chance both will pass on the non-working copies and have an affected child.
Deleterious
Having a harmful effect; disease-causing
Exon
the coding region of the DNA/gene
Hereditary Cancer
Cancer occurs when an altered gene (gene change) is passed down in the family from parent to child. People with hereditary cancers are more likely to have relatives with the same type or a related type of cancer. They may develop more than one cancer and their cancer often occurs at an earlier than average age
Heterozygous
Genes come in pairs, called alleles, and each pair is located in a specific position (or locus) on a chromosome. If the two alleles at a locus are identical to each other, they are homozygous; if they are different from one another, they are _____
Homozygous
Genes come in pairs, called alleles, and each pair is located in a specific position (or locus) on a chromosome. If the two alleles at a locus are identical to each other they are ____; if they are different from one another, they are heterozygous
Intron
is a portion of a gene that does not code for amino acids. In the cells of plants and animals, most gene sequences are broken up by one or more ____. The parts of the gene sequence that are expressed in the protein are called exons, because they are expressed, while the parts of the gene sequence that are not expressed in the protein are called ____, because they come in between the exons.
Pseudogene
A DNA sequence that resembles a gene but has been mutated into an inactive form over the course of evolution. It often lacks introns and other essential DNA sequences necessary for function. Though genetically similar to the original functional gene, _____ do not result in functional proteins, although some may have regulatory effects.
Carrier
is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms. ____ area associated with diseases inherited as recessive traits.
Next Generation Sequencing (NGS)
is a high-throughput methodology that enables rapid sequencing of the base pairs in DNA or RNA samples.
Single Nucleotide Polymorphisms (SNPS)
are the most common type of genetic variation among people. Each ___ represents a difference in a single DNA building block, called a nucleotide.
Affordable Care Act (ACA)
The comprehensive health care reform law enacted in March 2010 (sometimes known as ___, PPACA, or “Obamacare”)
Affordable Care Act
The law has 3 primary goals:
●Make affordable health insurance available to more people. The law provides consumers with subsidies (“premium tax credits”) that lower costs for households with incomes between 100% and 400% of the federal poverty level.
●Expand the Medicaid program to cover all adults with income below 138% of the federal poverty level. (Not all states have expanded their Medicaid programs.)
●Support innovative medical care delivery methods designed to lower the costs of health care generally.
Benign
Of no danger to health; not disease-causing
Breast Density
A term used to describe the amount of dense tissue compared to the amount of fatty tissue in the breast on a mammogram. ____ _____ tissue has more fibrous and glandular tissue than fat. There are different levels of breast density, ranging from little or no dense tissue to very dense tissue. The more density, the harder it may be to find tumors or other changes on a mammogram.
Clinical Breast Exam (CBE)
A physical exam of the breasts and underarms that is performed by a trained medical provider, to look for any lumps or other changes.
CA-125 Measurement
A test that measures the amount of the protein ____ in your blood. A ____test may be used to monitor certain cancers during and after treatment. In some cases, a ____ test may be used to look for early signs of ovarian cancer in people with a very high risk of the disease.
Somatic Mutation
An alteration in DNA that occurs after conception. ______ can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed onto children. These alterations can (but do not always) cause cancer or other diseases.
Germline Mutation
A gene change in a body’s reproductive cell (egg or sperm) that becomes incorporated into the DNA of every cell in the body of the offspring. _____are passed on from parents to offspring. Also called hereditary mutation.
Gleason Score
is the grading system used to determine the aggressiveness of prostate cancer. The higher the ____, the more likely that the cancer will grow and spread quickly. Scores of 6 or less describe cancer cells that look similar to normal cells and suggest that the cancer is likely to grow slowly. Scores of 7 or greater indicate a more aggressive prostate cancer and warrant hereditary testing
Familial Cancer
Cancer likely caused by a combination of genetic and environmental risk factors. People with familial cancer may have one or more relatives with the same type of cancer; however, there does not appear to be a specific pattern of inheritance (e.g., the cancer risk is not clearly passed from parent to child).
Genetic Information Nondiscrimination Act (GINA)
federal law that provides protections against genetic discrimination in health insurance and in employment. It was passed in 2008. It does no protect patients against discrimination in life, long-term and disability insurance.
