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- A Test That Changed EverythingBy:Sargun Thind (301614802)
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- Oh Sophie, you don't look so good. You should sit down and rest.
- Mom,Dad, I'm not feeling well.. my legs hurt and I'm so tired
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- I agree, I will call the doctor's office to book an appointment
- Sophie has lost a lot of weight and has been experiencing a lot of pain. Maybe we should call the doctor
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- Sounds good! I will get the room ready for you guys.
- Hi, my daughter has an appointment at 11:30.
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- Sophie has started to experience fatigue and weightloss. She's been feeling really weak and we are not sure what's causing it
- Hi, what brings you guys in today?
- We've tried to monitor it but it seems to be getting worse. She's not herself anymore
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- Yes, my mom had breast cancer
- Has anyone in your family experienced cancer before?
- Cancer runs in my family swell. My brother was diagnosed and now I'm worries about Sophie
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- That might be some important information since some cancers can be linked to inherited genetic mutations
- To help explain this better, let me show you a family tree of someone with a BRCA1 mutation
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- Description:This shows a family with a BRCA1 gene mutation which can cause breast or ovarian cancer at a young age. The mutation can be passed down from either parent and this type of genetic change follows an autosomal dominant pattern.
- (National Cancer Institute (US),2025)
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- Although neither of you have cancer, your family history suggests that you both could be carriers ofthe genetic mutation
- So, you're saying because of our family history, Sophie might have inherited this gene?
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- We don't know yet but the mutation itself does not mean she has cancer. It can, however, increase her risk of having it
- Im not following can you give us some information?
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- The BRCA1 gene plays an important role in repairing damaged DNA and preventing cells from growing out of control. When it functions properly it helps lower the risk of cancer
- What are the chances she will develop breast or ovarian cancer?
- However,if there is a mutation in the BRCA1 gene, the body's ability to repair DNA is weakend leading to uncontrolled cell growth over time.
- Since BRCA1 mutation follows an autosomal dominant inheritance pattern, a child has a 50% chance of inheriting the mutation if one parent carries it. Even if the parent never devolves cancer, they can still pass it down to their child
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- What can we do now? is there a way to test if she has the BRCA1 mutation?
- Here is a bar graph comparing lifetime risk of breast and ovarian cancer in the general population VS those with a BRCA1 mutation
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- We will start by doing some tests to see if your daughter has a BRCA1 mutation. This can be done with a blood or saliva sample since inherited mutations are present in every cell of the body. if the tests shows she has the mutation we can discuss the next steps.
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- You might feel a small pinch but it will be over soon
- All done! I'll see you in a week to call you about the results. If you start feeling worse don't hesitate to reach out.
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- 1 Week Later
- Oh my God... What does this mean? Is she going to get cancer?
- Hi, I'm calling regarding Sophie's report. The results came back positive. This means Sophie has a harmful change in the BRCA1 gene. These mutation increase the risk of devilling certain cancers. However, a positive result does not mean she will definitely develop cancer.
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- For example while the general population has a 13% chance of developing breast cancer individuals with the BRCA1 mutation have a 60% chance. Women in the general population have a 1.1% chance of having ovarian cancer whereas women with the BRCA1 mutation have around a 39% chance. As you can see, the risk is significantly higher for individuals with the mutation
- 1 Week Later
- I understand but what should we do now? How do we make sure she stays healthy?
- I understand how overwhelming this can be but these results do not guarantee she will develop cancer. Some people with this mutation never do develop cancer.
- We will keep Sophie closely monitored and schedule biweekly check-ins to track any changes in her health. We will also have regular screenings but as how now we need to focus on her lifestyle and diet
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- 1 Week Later
- Will lifestyle changes really help? Can it lower her risk?
- A healthy diet along with regular monitoring will give Sophie the best chance at staying well. We'll take it one step at a time and make sure she gets the right support
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- 1 Week Later
- Thank you, Doctor, we'll make the changes and set up the next appointment
- We will take this step by step and make sure she gets the help she needs. I'll check in with you soon.
- No worries, don't hesitate to call if you have any questions. Bye
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- THE END!
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