Gene Who?

   Last week I had an appointment with a Genetic Counselor.  Community Hospital provides this services complimentary with a breast cancer diagnosis.  I knew ahead of time that they would be asking a lot of family history questions, so I came prepared.  Not only did I bring my mom along, but I did my research ahead of time.  My mom has 6 siblings, and my dad has 2 siblings, with a total of 15 cousins...so I had my work cut out for me.  Between my parents and I, we emailed, called, or text every family member.  We had to ask them about anything they have ever been diagnosed with and at what age they were diagnosed with it.  Of course, we also needed to know about my deceased relatives, so we inquired about them too.  I made a branched family tree (thank you college genetics class) for each side of the family (maternal and paternal), and slowly began to fill it in.  What I didn't realize was that they had mailed me a packet to fill out before the appointment, and all this information was to be filled out again in the packet.
   So, with mom and family history in tow, I headed to the appointment, not sure what to expect.  I met with a young women (about my age) named Kaylee.  We talked extensively about genetics and how they play a role in cancer, the different ways my genes could have contributed to my cancer, and they types of genetic testing I could participate in.  The appointment lasted just over an hour.  My insurance will be changing at the beginning of the year, so we must wait until then, so see if I can get coverage for any genetic testing.  But until then, I was sent a letter summarizing our appointment.  I will share some of what it said.

"We discussed that at least 60% of all cancer cases are sporadic, meaning they are not passed from parent to child and are due to genetic changes in the cell thought to be caused by environmental factors.  Familial cancers account for approximately 20-30% of all cancer cases and are characterized by multiple family members affected with similar cancers.  Familial cancers are caused by a complex combination of both genetic and environmental factors.  Hereditary cancers account for 7-10% of all cancer cases, and are due to an inherited mutation in a single gene that can be passed through families.  Cases of hereditary cancer can be present in multiple generations on one side of a family, are characterized by bilateral or multifocal cancers that are exhibited at younger ages, and show specific patterns of cancer in blood relatives."

"Ms. Raper , your family has characteristics that indicate that you may have a hereditary form of breast cancer.  You have a personal history of melanoma at age 30 and breast cancer at age 31, a paternal first cousin once removed with breast cancer in her 50s, a paternal great aunt with breast cancer in her 70s, and several family members with a history of melanoma.  Multiple instances of breast cancer in a family, breast cancer occurring before menopause, and multiple cancers in the same person are  concerning for hereditary breast cancer.  Additionally, while skin cancer is a common cancer to observe in families, but having multiple individuals with breast cancer and melanoma in a family is concerning for hereditary breast and ovarian cancer syndrome."

   There are two types of genetic tests out there that I can choose to forgo (I have already done the BRCA1/BRCA2, which was negative).  These two tests are called BreastNEXT and BRCAPlus.    The BRCAPlus would only look at 4 other high risk breast cancer genes that would provide clinically actionable information.  This means that if any of these genes show mutation, I have another cancer or syndrome that caused my breast cancer, which would need to be treated.  The BreastNEXT test would look at a total of 16 genes for any mutations.  However, with either test the results could be positive, negative, or a variant of uncertain significance (which is a change in one of the genes tested that has not yet been classified as benign or disease-causing).  So, let's hope and pray that my insurance will cover at least one of these tests, because it could potentially give me life-saving information.

FAMILY: "Ms. Raper, although we know that you do not carry a mutation that can be found by sequencing and rearrangement testing of the BRCA1 or BRCA2 genes, your female relatives warrant increased surveillance for breast cancer. We recommend that women in your family have annual mammograms beginning at age 25.  Typically, the recommendation is to begin mammograms 10 years prior to earliest age of diagnosis in a family; however, we do not recommend mammograms prior to age 25."