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.

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