Genetics and genomics
Description
Cancer, Genetics, and Genomics
Rachel comes from a family with a history of breast cancer on her
mothers side. Rachels mother died of breast cancer when she was very
young. Rachel has two sisters, Lisa and Kristin. Rachel has remained
close to Lisa, but she no longer has a relationship with Kristin. At a
routine checkup, Rachel is told about the availability of genetic
testing for identifying a predisposition to breast cancer. Her doctor
recommends the test to Rachel given her family history. Rachel has the
genetic testing done and finds that she has a mutated breast cancer 1,
early onset (BRCA1) gene. Her doctor tells her she is at high risk for
developing breast and ovarian cancer. Rachels doctor suggests she ask
her sisters to be tested also, so they can take the proper preventative
measures. Rachel feels comfortable sharing this information with Lisa,
but she has not spoken to Kristin in many years. Rachel tells her doctor
that she is not in contact with Kristin and will not make an effort to
tell her about BRCA1 and genetic testing. Rachels doctor feels
confident that she can locate Kristin but worries about breaching
patient confidentiality if she goes against Rachels wishes.
If you were Rachel’s healthcare provider, what would you do? Provide a
rationale for your response. Include the pathological processes
associated with breast cancer. What role does the BRCA1 gene contribute
to managing the patients care? Describe and explain the role of the
BRCA1 and breast cancer 2, early onset (BRCA2) gene in contribution as a
risk factor for breast cancer. Analyze the risk factors for breast
cancer and possible interventions to preventive health management for
women and men.
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