Genetics

POSITIVE: Pathogenic Mutation Detected

Well out of this whole whirlwind....I can honestly tell you that my genetics appointments have been the most interesting and if you were to say that I am "excited" about meeting with my genetics counselor....well sure....you could say that.  I wish I didn't HAVE to meet with anyone.  Like oncologists, nurses, genetics blah blah blah.  (Meaning this Cancer thing is all a dream)  BUT....I truly was extremely intrigued during my genetics appointments.  

I will start this out with, holy cow people are amazingly smart.  I am so incredibly thankful for these individuals who have the knowledge and passion for genetics.  I am also extremely lucky and fortunate that one of my very close friends' aunt is who I met with.  She is "honorary auntie" and my smart, intelligent, cutting edge genetics counselor.  A pretty bad ass combo.  

Well most of you out there....(I don't know who is reading this so I am just generalizing) probably know about BRCA 1 and BRCA 2 gene mutations.  Miss Angelina Jolie is who made these mutations "popular" as she tested positive for the BRCA 1 gene mutation.  Her mother died of ovarian cancer and she was told with this gene mutation she had an 87% risk of breast cancer in her life time.  Angelina Jolie decided to have surgery to lower her chances of these cancers developing. 

Because my genetics counselor is amazing, she ordered multiple genetic tests as opposed to just going with the standard BRCA 1 and BRCA 2 tests.  And guess what.....I tested positive.  

My pathogenic mutation is in the PALB2 gene.

The breast cancer risk estimate for individuals with this genetic mutation is 33-58% in a lifetime depending on the presence of breast cancer family history.  And also an increased risk for ovarian and pancreatic cancer.  I am on the "lower" end of that risk ...  33% as we don't know of any breast cancer in my family.  But holy cow...33%...who would have thunk.....

Bam....that is where all of our puzzle pieces started to come together.  NO breast cancer that we know of in my family.  BUT pancreatic and ovarian are present.  (Great Uncle, Great Grandpa and Great Grandma).  

WE DO NOT know what side of the family I inherited this from, so we are taking the next step and testing my Mom.  That way we can start testing family members for this gene mutation.

I see this as a tool, a tool for family members to know about so they can be screened and watched closely.  Genetics is an incredibly amazing thing, but extremely scary all at the same time.  

As for my sweet babies....we will just wait until they are old enough to be tested (I believe this happens at age 18).  They have a 50% chance of inheriting the mutation. Screening would just happen early and more frequent for each who test positive.  Fingers crossed this mutation stopped with me :)  

From my understanding PALB2 is a "new" gene in the breast cancer world.  Hopefully this will only help in the addition of "tools" in my toolbox for keeping this C crap in remission.  

I will say, I have learned A LOT in the past month.  Things I wouldn't have ever wished to learn about myself, but I am truly thankful that I am surrounded by knowledge and expertise.  As a type A, independent, self sufficient, perfectionist I will say it has been extremely difficult to feel lost in the information.  But I am taking it all in, and trusting in my amazing team to lead the way!