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 (BRCAl) 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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