GENETICS

A 36-year-old patient who has a suspicious mammogram tells you that her mother died of bone cancer when she was 40 yrs old. Your follow up question, "Did your mother ever have another type of cancer"? reveals a history of breast cancer. What is your next response to the patient?

"Are you aware that breast cancer frequently will metastasize to the bone, causing complications?"

A woman whose hemoglobin S levels are less than 1% has a brother with sickle cell disease, and both parents have been diagnosed as carriers for the disorder. She asks what her risks are of having a child with sickle cell disease. What is the best response?

"Because you do not have the trait, you cannot have a child with sickle cell disease regardless of your partner's sickle cell status."

An 85-year-old patient tells you she does not perform breast self-exams because there is not history of breast cancer in her family. What is your best response?

"Breast cancer can be found more frequently in families; however, the risk for general, sporadic breast cancer increases with age".

A patient states that she has heard that the origin of most cancers is "genetic." What is the best response?

"Cancers arise in cells that have alterations in the genes."

A patient is diagnosed as being high risk of developing breast cancer. Which statement indicates the step of promotion in carcinogenesis?

"I have taken estrogen medication for 30 yrs"

A nurse is teaching a patient about genetic mutation that increases the risk for colon cancer. The patient states he does not want any of his family to know about this result.

"It is not required that you tell anyone about this result; however, since your siblings and children may also be at risk for colon cancer, you might want to think about how this information could help them."

You are working in a clinic and a 4-year-old child is brought in with a history of cleft palate repair. His parents say they want to have another child and ask you if their other children will have the same problem. They mention that Mom's uncle Bob had a cleft lip. What do you say?

"Let's make an appointment with a genetic counselor who will help determine your next child's risk."

A 22-year-old college student tells his nurse practitioner in the student health center that his mother died of colon cancer at age 32. He asks if this could have an impact on his health. What is your best response?

"Yes, it would be good for you to talk with a genetics counselor."

Juliet tells a nurse that she has three aunts (two on her father's side, ages 42 and 56, and one on her mother's side, age 62) who were diagnosed with breast cancer. She asks if she should have genetic testing. What should the nurse tell her?

"Your family history may indicate an increased risk for breast cancer, and a genetic counselor could help determine whether you could benefit from genetic testing."

A 40-year-old man who has a mother who was diagnosed with breast cancer at age 45, a father who was diagnosed with smoking-related lung cancer at age 55, a 33-year-old sister with breast cancer, and a 38-year-old sister with ovarian cancer asks if he should be concerned for his cancer risk. What is the best response?

"Your risk for breast cancer may be increased and requires more investigation; however, your risk for lung cancer is not affected by this history."

Genetics:

(inheritance pattern) The study of the general mechanisms of heredity and the variation of inherited traits

GENOMICS:

(study of genes and their function) the study of the function of all the nucleotide sequences presents within the entire genome of a species, including genes in DNA coding regions and in DNA non-coding regions

Mutations in which of the following genes are now known to greatly increase the risk for developing breast cancer? Select all that apply.

- CDH1 - CHEK2 - PALB2 - PTEN

The nurse is determining if a pregnant patient is an appropriate candidate for a genetics referral. The nurse makes the referral based on which of the following findings? Select all that apply.

- Child with Down syndrome - Positive alpha-fetoprotein test

A nurse is developing a health promotion program, regarding health promotion and disease prevention practices. The nurse should:

- Consider genetic and genomic influences pertaining to personal and environmental risk factors - incorporate knowledge of genetic and/or genomic risk factors into the care plan of the client/patient

Which term is used to describe an anomaly caused by a physical or mechanical force that prevents the proper growth of a structure that would have developed normally if the force was not present?

- Deformation

A client has hypercholesterolemia. The nurse understands that which of the following reflects the phenotype of the disease? Select all that apply.

- Early onset of cardiovascular disease - Skin xanthoma - Family history of heart disease

Which health problems are common to both turner and Klinefelter syndrome? SATA

- Germ cell tumors - Osteoporosis - Infertility

By which process does epigenetics assist in cancer development?

- Hypomethylation of the tumor DNA

A nurse is discussing mitosis with a couple who has come for genetic testing. Which of the following is a function of mitosis in humans? (Select all that apply)

- Repair of wounds - Growth - Replacement of dead or damaged cells

A 12-year-old boy with Marfan syndrome complains to his nurse-practitioner, "My mother won't let me play football or do anything else. Isn't there something I can do besides sitting and playing video games?" Which activities listed below may be considered less risky for this child to perform? Circle all that apply.

- Riding his bike with his friends - Playing table tennis - Archery - Recreational ice-skating - Hiking to low to moderate trails

A nurse is obtaining a family health history. What criteria should be of concern to the nurse? (Select all that apply)

- Several relatives who are affected with the same disease - Early sudden death of an individual - A child whose parents are closely related

Which personal factors indicate the possibility of a person having a BRCA1 or BRCA2 mutation? Select all that apply.

- The person's brother was diagnosed with breast cancer. - The patient's father died of pancreatic cancer at age 44. - The person is of Ashkenazi Jewish ethnicity.

A nurse is offering counseling to a couple. They ask about alleles and gene expression. Which of the following is (are) true for alleles? (Select all that apply)

- Two alleles together control how a gene is expressed - They can be dominant of recessive - They can represent alternative forms of a gene

Nurse is counseling a family with predisposition/history (sata)

- a. plan of care - B. teach about risk factors. - Both A and B. (You should pick 3 of them. **not sure)

Which feature or factor is the best predictor for delay of complications in a person who has sickle cell disease (SCD)?

20% or greater of HbF

What percentage of common cancers appears to be hereditary?

5% to 15%

AUTOSOMAL RECESSIVE TRANSMISSION-

A gene that is expressed only if someone inherits 2 recessive alleles for that gene from each parent.

Which anomaly constitutes clinodactyly?

A laterally curved fifth finger

How is a congenital anomaly that requires intervention or management categorized?

A major anomaly

What is the best definition of the term compound heterozygous?

A person who has two different mutated alleles for an autosomal-recessive disorder

What is the difference between "triploidy" and "trisomy"?

A. Triploidy involves an extra copy of every chromosome, and trisomy involves an extra copy of only one chromosome

WHEN YOU'RE EVALUATING A PEDIGREE, THINK OF HOW MANY GENERATIONS.

AT LEAST THREE

Which ethnic group has the highest incidence of sickle cell disease (SCD)?

African Americans

If a man with classic hemophilia (X-linked recessive) has children with a woman who is a carrier for the disorder, what is the expected risk pattern?

All sons have a 50% risk of the disorder; daughters will all either be affected or carriers.

Which type of body tissue has the highest risk for cancer development?

Any tissue that retains the ability to divide

Couples from which ethnic group would derive the greatest benefit from genetic testing for Tay-Sachs disease?

Ashkenazi Jews

What is the best action to take when you observe the presence of a smooth philtrum on a young child?

Assess for the presence of any other dysmorphic features.

What is the most important action to take when assessing an infant for possible dysmorphic features?

Assess the phenotypes of first-degree relatives.

What is the risk of a person becoming affected with Alzheimer disease if his father developed AD during his 40s?

Because early-onset of AD is a complex problem, we cannot determine his risk.

which statement regarding classic hemophilia is true?

Because hemophilia is X-linked recessive, males are affected, and females are carriers.

How are malignant tumors different from benign tumors?

Benign tumors retain parental cell functions, and malignant tumors lose parental cell functions.

Which statement regarding the biology of cancer is always true?

Cancer cells arise from normal cells

Which statement about a "germline" mutation in either a cancer suppressor gene or an oncogene is accurate?

Cancer risk increases, but additional mutations are required for cancer development.

Which characteristic(s) is/are associated with an inherited predisposition for a cancer type?

Cancers tend to appear at an earlier age than do "sporadic" cancers.

Which clinical manifestation in a 6-month-old infant is most diagnostic for Tay-Sachs disease?

Cherry red spot on the retina

Which cancer type is associated with a 9;22 translocation t(9;22)?

Chronic myelogenous leukemia

A patient with a fractured elbow in the emergency department states that he needs morphine for pain rather than codeine because the last time he had a painful injury, codeine was not effective in managing his pain. What is the nurse's best response or action?

Communicate this information to the admitting physician.

How is a complete carcinogen different from an incomplete carcinogen?

Complete carcinogens are more likely to induce sporadic cancers.

A patient comes to the clinic for genetic counseling. The patient asks the nurse about the work of the Human Genome Project (HGP). How should the nurse respond?

Created the rational for genetic determination

A nurse is discussing genetic testing with a 35 year old patient who is pregnant. The nurse explains the various genetic testing lab methods to the patient. The patient asks the nurse what type of test examines the whole chromosome for variations in structure and number. How should the nurse respond?

Cytogenetic testing

Which theory of carcinogenesis has the most support?

DNA damage, which permits overexpression of oncogenes

How does an MSH2 gene mutation contribute to the development of colon cancer?

DNA mutations are incorrectly repaired.

Which dietary alterations are necessary to help reduce the complications of phenylketonuria (PKU)?

Decreased intake of phenylalanine; increased intake of tyrosine

What health advantage does sickle cell trait or disease confer on the person who has it?

Decreased risk for malaria

Which genetic disorder is associated with an increased risk for type 2 diabetes?

Down syndrome

Which characteristics of a tumor are associated with accelerated cell growth?

Driver mutations

A friend of yours is concerned that he may be a "carrier" for down syndrome because both he and his siter have a "simian" crease on one hand. What is your best action or response?

Explain that chromosomally normal people often have one or more features associated with down syndrome.

A nurse is explaining the phenotype and genotype to a couple. Which statement regarding genotype and phenotype is accurate?

For autosomal recessive traits, the phenotype is the same as the genotype.

Which statement regarding the phenotype of fetal alcohol spectrum disorder (FASD) is correct?

Genetic and environmental factors influence the FASD phenotype

GINA- Genetic Information and Non-discrimination Act.

Genolog is protected from insurance companies since they do not want to insure you. (Pg. 344-345) - Makes it illegal for health insurers to use client's genetic information to make decisions about their eligibility for insurance, premium sizes, or extent of coverage. They cannot use genetic information as evidence for preexisting conditions and cannot require their client to undergo genetic testing Makes it illegal for employers to use genetic information to make decisions about hiring, promoting, or terminating

PKU - HOW DO THEY PERFORM THAT TEST?

HEEL STICK WHEN THEY'RE A BABY Phenylketonuria (PKU) is done to check whether a newborn baby has the enzyme needed to use phenylalanine in his/her body. It is an amino acid that is needed for normal growth and development. Goal: keep blood levels b/w 120 and 360 micromols/L

Cite five examples of multifactorial-inherited conditions:

Heart disease, high blood pressure, cancer, osteoarthritis, neural tube defects, spinal bifida, and anencephaly

Why are X-linked recessive disorders expressed in males more frequently than in females?

Hemizygous X alleles in males have homozygous expression

Which type of testing is most commonly used to diagnose sickle cell disease?

Hemoglobin electrophoresis

Presymptomatic genetic testing would be appropriate for which of the following disorders?

Huntington's Disease

Which result of genetic/genomic variation has the most support as a cause of asthma?

Increased inflammatory responses to environmental triggers

By which process does "initiation" assist in cancer development?

Inflicting mutations at specific sites on the exposed cell's DNA

A nurse is working with a client who is undergoing genetic testing. The nurse would least likely be responsible for which of the following?

Informing the client about the testing results

Which feature is associated exclusively with sporadic cancer?

It occurs at the same frequency within a kindred as in the general population.

Which genetic disorder is associated with older parental age at conception?

Klinefelter Syndrome

What is the risk for a women with down syndrome to produce a child with down syndrome when impregnated by a man who has normal chromosome numbers?

Less than 50%

Which of the following benign tumors usually express aneuploidy?

Lipomas

Which feature is considered anaplastic?

Loss of a distinctive appearance

What is the result of a mutation occurring in a suppressor gene?

Loss of an existing function

Which characteristic or feature distinguishes a major anomaly from a minor anomaly?

Major anomalies require medical attention, whereas minor anomalies are considered a variation in structure.

An Asian American man and his Caucasian wife are both taking warfarin (Coumadin) daily because of atrial fibrillation. The husband asks why he is prescribed a much-smaller-than-average dose of the drug to keep his international normalized ratio (INR) at 2.0, whereas his wife takes the average dose, even though he is taller and heavier than she is. What is the nurse's best response?

Many Asian Americans do not break down warfarin as fast as Caucasians, so the drug is more effective at lower dosages."

A patient has been diagnosed with mitochondrial disorder. The patient asks the nurse how these disorders are inherited. How should the nurse respond?

Maternal side

A nurse is caring for a patient who has a genetic disorder. Which of these functions is most appropriate to the role of a nurse?

Obtaining an accurate family history and physical assessment

Which activity would a nurse be expected to perform as a part of genomic care?

Obtaining an accurate family history and physical assessment date

How is sickle cell trait different from sickle cell disease?

People with sickle cell disease are homologous for the mutation, whereas those with sickle cell trait are heterozygous for the mutation.

How do genetic/genomic issues influence individual variation in the response to a specific drug?

Polymorphisms of genes encoding metabolizing enzymes

How is progression different from metastasis?

Progression involves continual gene changes in a cancer cell that enhance its degree of malignancy, whereas metastasis is the ability of the cell to invade other tissues.

Why is pharmacogenetics/pharmacogenomics of particular interest in treating patients with psychiatric/mental health problems?

Psychiatric medications may be effective in only a small group of patients.

Which of the following is a goal of pharmacogenetics?

Reducing adverse reactions

How does the drug Endari reduce the manifestations of sickle cell disease?

Reducing oxidate stress and increasing the life span of red blood cells

After assessing a client's family history, the nurse determines the need for a genetic referral based on which of the following?

Several relatives diagnosed with colon cancer

A woman whose husband works at a nuclear power plant gives birth to a son who has hemophilia. The woman asks how could this happen? How should the nurse respond?

She may be carrying the hemophilia allele.

Which clinical feature is a common finding for infants with trisomy 21, trisomy 18, and trisomy 13?

Single palmar crease

Which specific type of genetic problem causes sickle cell disease?

Single-nucleotide polymorphism

Which manifestation is a characteristic feature of untreated phenylketonuria (PKU)?

Small stature

By which process does "promotion" assist in cancer development?

Stimulating or enhancing cell division of cells damaged by a carcinogen

What is the function of a normal BRCA1 gene?

Suppresses the growth potential of a variety of oncogenes

Which feature is common among people who have Klinefelter syndrome (47,XXY) or a karyotype with 47,XXX but not among people who have Down syndrome or Edward syndrome?

Tall stature

A pair of unrelated 4-year-olds (Lester and Lucy) have mucopolysaccharidosis 1 (MPS1). Lester has severe dysmorphic features and many skeletal anomalies. Lucy has only mildly coarse features and slight developmental delay. What is the best explanation for these differences?

The disorder has wide variability in expression of severity.

Why should a tall teenager with Marfan syndrome avoid joining the high school basketball team?

The disorder is associated with weakened blood vessel walls that could rupture during strenuous activity.

A nurse is caring for a patient in a small town and notices that many of the patients suffer from the same autosomal recessive disorder. The nurse understands the reason for this is?

The initial founders of this population carried this abnormality in to the community

Which statement regarding general cancer development is true?

The risk for cancer development increases with age.

Why are people who have poor DNA repair mechanisms at greater risk for cancer development?

Their somatic mutations are more likely to be permanent.

Why is predictive testing for Huntington disease avoided for a 4-year-old child who has one grandparent with the disorder?

There are no effective primary or secondary prevention strategies for this disorder.

What is the expected outcome of pregnancy for women with phenylketonuria (PKU) when the blood levels of phenylalanine are high throughout the pregnancy?

There is a high incidence of cardiovascular birth defects.

How does an acquired mutation in a somatic cell gene leading to cancer development affect a person's ability to pass on a predisposition for that cancer type to his or her children?

There is no risk of passing on a cancer predisposition from a somatic cell mutation.

Which of these qualities is common to cancer cells?

They continue to grow even when surrounded by other cells.

Which statement best describes the role of tumor suppressor genes in cancer development?

Tumor suppressor genes control or modify the activity of oncogenes, reducing the risk for cancer development.

A nurse is discussing the autosomal dominant pattern of inheritance for a specific trait or characteristic with a family. Which statement if made by the nurse best explains this characteristic?

Unaffected family members do not transmit the trait to their children.

Which statement is a criterion for an autosomal dominant pattern of inheritance of a specific trait or characteristic that is highly penetrant?

Unaffected family members do not transmit the trait to their children.

A nurse is explaining the difference between gene penetrance and gene expressivity to a couple who has a history of genetic disorder. Which statement if made by the nurse is true?

With penetrance, the gene is either expressed completely or is not expressed at all. With expressivity, the gene is always expressed but the degree of expression can range from minor to extreme.

A father and all his daughters but none of his sons have a disease. How should the nurse explain trait inheritance?

X-linked recessive

A nurse is teaching a group of women in a prenatal class about fertilization and cell development. A patient asks how gametes are different from zygotes. How should the nurse respond?

Zygotes are the cells that result from fertilization, and gametes are the mature sex cells of both genders.

RECESSIVE GENES-

a gene that's effects are masked by a dominant gene. This gene is only expressed when there are two recessive alleles for that gene.

DIFF BETWEEN MAJOR AND MINOR ANOMALIES

an anomaly is a structural defect that deviates from the normal. Major anomalies have surgical, medical or cosmetic importance and minor anomalies have no major importance to one's health

Which statement regarding Duchenne muscular dystrophy (DMD) is true?

because DMD is X-linked recessive, males are affected, and females are carriers.

What event occurring during the latency period of carcinogenesis is most likely to contribute to cancer development?

exposure to promoters

true or false: all cancer is inherited

false

Which substance fails to form normally in individuals with Marfan syndrome?

fibrillin

AUTOSOMAL DOMINANT TRANSMISSION

gene that is expressed even in the presence of a recessive allele.

Which traits maintain the limited mortality of a normal cell?

program number of cell divisions

Apoptosis

remove damaged cells; as a person's liver cells age, wear out, are damaged, or become less functional in some way, they undergo a process of program cell death or cellular suicide known as apoptosis.

Genetic Counseling:

the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease

true or false: all cancer is genetic

true

Tumor of unknow origin resembles which tissue type?

unidentifiable parental tissue type