Cancer, Genetics, and Genomics
Rachel comes from a family with a history of breast cancer on her mother’s side. Rachel’s 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. Rachel’s 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. Rachel’s doctor feels confident
that she can locate Kristin but worries about breaching patient confidentiality if she goes against Rachel’s
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 patient’s 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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