Criteria for Genetic Testing in Breast Cancer

The recent news of Angelina Jolie’s prophylactic mastectomies has created a lot of anxiety and confusion in the minds of young ladies. Ever since the news hit the media, we are getting 2-3 queries each day regarding genetic testing and risk reduction surgery. I will try to address the whole issue in a few blog posts. In this post, I am highlighting the indications for genetic testing (BRCA 1 & 2).

Before I enumerate the various indications, I would like to clarify a couple of points.

  • Not all women require genetic testing. Only those who meet one or more of the criteria highlighted below are candidates for genetic testing.
  • Even those who test positive for the gene, require extensive counselling before they adopt any risk reduction technique.

The criteria for genetic testing are:

  • Member of a family with a known mutation in breast cancer susceptibility gene.
  • Member of a family with two or more breast primaries (cancers)
  • Two or more individuals with breast cancer on the same side of the family (maternal or paternal)
  • One or more relative with ovarian cancer from the same side of the family (maternal or paternal)
  • First or second degree relative with breast cancer below the age of 45 years
  • Breast cancer diagnosed in a male relative
  • A women of Ashkenazi Jewish descent (high risk population for BRCA mutations and breast cancer)

Myriad Genetics holds the patent for BRCA testing and ever since Angelina’s news broke out, they have increased the prices of the test to $4000.

My favourite cancer survivor

dadi

Today, this blog is a month old and I could not think of a better post to celebrate this   moment. This post is about my favourite cancer survivor, my grandmother. It is difficult to describe her in words but I will try my level best to do justice to her amazing personality and her fighting spirit.

Her symptoms appeared on a normal day, approximately two years back, after she had finished her daily quota of cooking (her first love and something which keeps her spirits high despite all odds). She noticed blood in her urine, which refused to stop despite medications and it made her and all of us anxious. Without any delay, we got an ultrasound done and it confirmed our worst fears. She had multiple tumors in her bladder. When we broke the diagnosis to her, she was, like all cancer patients, initially in denial but very quickly she reconciled to the fact that she had cancer and started preparing for the battle ahead.

Out of all the doctors in the family, she trusts my decisions the most (advantage of being a grandson 🙂 ) and so she called me to understand her disease and further course of action. Because she had been under the knife many times in her life, she was very calm about the diagnosis & the upcoming surgery, and for once she was happy that something was going to be removed from a her body rather than being added. In all her previous conditions, something had been added to her body (lenses after cataract, stents, pacemaker and artificial knees). 🙂 🙂

She was a bit nervous before surgery, not so much due to the cancer but because of her cardiac condition. Fortunately, her surgery went off really smoothly and although she had multiple lesions, all of them turned out to be superficial lesions which were completely removed. She had a speedy recovery, which was evident from the fact that she was back in the kitchen, cooking delicacies for us & knitting sweaters (her other passion), within a week of her surgery. My grandfather tried to discourage her from knitting after her surgery but we always encouraged her because it was one activity which kept her busy and left her with very little time to think about her disease.

More difficult than the surgery was her ordeal with the six cycles of intra-vesical chemotherapy (chemotherapy instilled into the bladder). She had to tackle repeated infections during this period but her strong will-power helped her pull through during this difficult phase. The first couple of days after each cycle were tough but on the third day she would be back doing what she enjoyed the most (cooking & knitting).

She finally finished her treatment and has been cancer-free for more than a year and a half now.

As a doctor observing her fight against the disease, I realised that being passionate about something (in her case, cooking & knitting) can really help one in channelizing his/her energy and it helps to tide over difficult times. I often give her example to my patients and it gives them hope and courage to fight their cancer with a smile.

Thank you for following my reflections!!

Which one is my reflection??

Which one is my reflection??

In less than a month of starting this blog, more than 4000 visitors have visited the website and liked the posts and more than 50 people are following my blog.

Thank you very much for the support and encouragement and please keep enjoying my reflections!! 🙂

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