This morning I met with Rachelle, a genetics counselor at Magee’s Cancer Genetics Program. I had brought my iPad prepared to take notes, but she had a packet of printouts for everything she covered. I don’t know if she does this for every patient, but I’m here for it!

First we went over my family tree. She called it a limited structure because it’s so small for close relatives. Both my parents are only children, and my only sibling is no longer living. None of my grandparents passed from cancer. Knowing I’m of Ashkenazi Jewish descent helps with genetics since there are regional influences.

Of the hereditary causes of breast cancer, the most well known gene mutation is BRCA1/2, but there are others. Features of hereditary cancer include:

• Multiple family members with the same or related types of cancer
• Several generations of cancer
• Young age of diagnosis (age 45 or younger)
• Individuals with multiple primary cancers
• Rare types of cancer (male breast, ovarian, pancreatic)
• Suggestive tumor studies (TNBC<60)
• Ethnicity

However, based on the features listed, Rachelle’s estimate is that I have a 13% risk of BRCA, and a 16% total chance of one of the breast cancer genes. We’re pretty confident there’s no lineage risk through Mom. Even though there’s no cancer on Dad’s side, given that it’s a small family and mostly men, it could be masked.

Therefore, genetic testing will show if I have any of the genes that increase my risk of breast cancer. This information won’t tell me the chances of recurrence, but will reveal the chances of a new cancer somewhere else.

For example, did you know that if you have BRCA1, you’re at high risk for ovarian, prostrate (well, pick one), or pancreatic cancer, as well as melanoma?

The possible genetic test results are:

• Mutation detected or positive result
  • Increased cancer risk
  • Follow screening guidelines
  • Consider testing other family members
• No mutation detected or negative result
  • If known familial mutation, then true negative, risk not significantly increased
  • If no known familial mutation, then cancer risk based on family and medical history (and basically same risk as everyone else)
  • THIS IS THE ONE I WANT!
• Variant of uncertain significance
  • Cancer risk not yet known
  • Cancer risk based on family and medical history
  • More information may become available later
  • This is when they see a change but the data isn’t enough
  • These are about 1% of every gene looked at and they treat them as negatives because the majority get downgraded to negative later
  • Rachelle can also check these against other lab investigations and maybe get some more information if I end up with this result

After the appointment, I had a vial of blood taken. Results will take two weeks. While this seems like a long time, at least it’s not the 4-6 months it used to take back in 2016!

When the results are in, Rachelle will reach out to me and set up a video call. Depending on the results, I can meet with her again to get more information – like if there’s a mutation, she can explain the options and risk reduction strategies.

This should be interesting!