Patient's Query
Hello doctor,
My friend's sister died of lung cancer at the age of 28. No one in their family had lung carcinoma. Now he is afraid of any familial risk or occurrence. He is 30 years old now. Is there any investigation to find out whether he is at genetic risk of lung cancer or not?
Kindly guide.
Hello,
Welcome to icliniq.com.
I understand your concern.
Lung cancer occurring at 28 years is unusual, and he is right to be concerned regarding the familial risk. As far as lung cancer is concerned, there is no specific gene or syndrome that is considered familial. But studies have shown that if a family member had lung cancer and was a non-smoker, the risk of lung cancer in them is high.
There are genetic tests available that can detect such mutation and their risk of causing lung cancer. But these tests should be done in a patient who has cancer, so we can identify the particular mutation. So that the relatives could be tested for the specific mutation.
The most widely known mutation in such cases is EGFR (epidermal growth factor receptor), which can cause familial lung cancer. If his sister was tested for this and it was negative, then there is no further need for testing.
So even if we do the test on your friend and find some abnormalities, we will not be sure of their significance. It will only add to the anxiety of your friend.
What I would recommend right now is to adopt a healthy lifestyle and avoid known risk factors for lung cancer. Some researchers have shown that family history makes you seven to eight times more prone than a normal person if you continue to smoke.
Also, if possible, I would like to see the histopathology report of his sister regarding the type.
I hope this helps.
Feel free to reach out in case of further queries.
Thank you.
Patient's Query
Hello doctor,
Thank you for the reply,
They do not have the reports now. She passed away eight months ago. So, if we test his EGFR now, and he is positive, is there any way to prevent the consequences?
And my doubt is, what percentage chance of him being affected by lung cancer is present?
He is planning to get married now. He was in confusion about his health.
Please help.
Hello,
Welcome back to icliniq.com.
I understand your concern.
No model can calculate individual risk based on family history. So, I can only give you the value based on population data. A positive family history will increase the risk by one to two times.
EGFR (epidermal growth factor receptor) mutation is tested in the patient and tumor biopsy samples. If a particular mutation is detected, we see whether it has any hereditary capacity.
Right now, we do not know which EGFR mutation to test. Even if your friend comes out to be positive, we do not know whether his sister had the same mutation and whether this mutation was the cause of lung cancer. Even in the normal population, you will have some mutations. This will just add to the cost and patient anxiety.
Further, there is currently no drug to prevent the outcome other than lifestyle change and avoidance of risk factors. So, as per the guidelines, I will not recommend mutation testing for him.
I hope this information helps you.
Feel free to ask further queries.
Thank you.
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Answered byDr. Pawar Satyajit Jalinder
Medically reviewed byDr. K. Shobana
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