Germ Line Mutation Analysis

My wife recently diagnosed  triple positive breast cancer,  Ki-67 - 60%. Pathologic stage : pT2N1a , no family history of cancer. Tumour size; 2x 1.7x 1.1 cm.  (not sure what else I should  print from the Histopathology report) 

 Age 36 years. She was breast feeding our 1 year old (second) kid when we found it out.

Received first TCH Chemo ( Docetaxel + Carboplatin + Herceptin). 

My question is : 

Doctor has asked Germ Line Mutation Analysis, what it is going to found ? how it can effect treatment? Do we have enough data to to drive suggestion/treatment with enough confidence?

[ I have basic understanding of Germ Line Mutation Analysis. if I understand correctly only less then 10% cases are due to inheritance. Also Her-2/neu is not carried in inheritance. ]

7 Replies

oldestnewest
  • Germ line mutation may not influence present treatment. But it may have an impact for future planning. 

    Your questions are very valid. I feel that your counselling has not been done. Before any genetic testing is done, it is extremely essential to consult a genetic counsellor. For example, my genetic counsellor spends almost 45 minutes to more than an hour explaining very much what you have asked. And only when the patient and relatives understand the reasons and implications of genetic testing, do we go ahead with the same. 

    I would not be able to solve your doubts here, I am sure you understand that. Since it needs detailed assessment of patient, her report, her family etc. You will need to take it up with whoever has prescribed you or try to request for meeting a genetic counsellor. Doing a genetic testing without understanding the possibilities which are likely to come up will add an undue level of confusion, and anxiety. Please contact you doc and request for counselling in detail. 

    Apart from this, her cancer is clearly in early stage (2B). So don't worry, complete her treatment properly  she should do well  

  • Germ Line mutation Testing for what ?   BRCA 1 and BRCA 2    ??

    Triple Positive Cancer (Her 2+ve)

    No family history of Cancer.

    Age = 36 years OR having Her-2 positive Breast cancer is NOT any criteria for getting Germ line Mutation testing to the best of my knowledge.

    The USPSTF recommends  AGAINST routine genetic counseling or BRCA testing for women whose family history is not associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes. 

    Ref:

    uspreventiveservicestaskfor...

    Pal, the chemotherapy regimen selected is correct and ideal. I would concentrate more getting along with the chemo and Herceptin 

    and finishing the entire course of 1 years treatment (Herceptin)  and not hunt and waste time on Germ line testing.

    Regards

    Dr Rohit Malde

  • Thanks Dr Rohit, Sumeet. Today again I did talk to genetic counselor (a senior one)  she did talk to Dr.  She suggested not to go ahead with Germ Line, but do  Somatic Mutation Analysis.  If I understood her, it is not going to change current Chemo plan, only subsequent medication.  How soon it should be done, if indeed it is required.

  • You may do it as per your convenience. Some patients do it after their chemo is over while some do it immediately. Choice is yours. Unless there is some issue, there is no reason not to do it right away.

  • Thanks Dr.

  • Is it good idea to get raw data from such test. Can it be used to run more analysis in future or with other labs?

You may also like...