Sunday, January 18, 2015

Cancer Genetic Risk Assesment / Cancer Prevention Screening

I have the BRCA-1 gene 4Q1538X(4731C>T) mutation.

What is that?!?!?!?

Basically you have 2 sets of genes. One from your mother and one from your father. When one is mutated, it doesn't function correctly... and there in lies the problem. My bum gene.

That's about as scientific as I get. ;-)

...but here's what it really means to be BRCA-1 positive.

Risks:

Women:
85% risk to develop breast cancer
44% risk to develop ovarian cancer

Men:
0.1% risk to develop breast cancer
20% risk to develop prostate cancer

They do not yet know why some women get one cancer vs. the other..

In my family, we have had 2 people with ovarian cancer & nobody has had breast cancer, even though our risk for breast cancer is much higher.

Screening:

Women: 
Mammogram- yearly, beginning at age 25, or 10 years earlier than the earliest diagnosis in the family.
Breast MRI- Yearly (preferably 6 months after mammogram)
CA-125 & Transvaginal Ultrasound- Both are performed every 6 months beginning at age 30, or 5-10 years earlier than the earliest age of ovarian cancer in the family. Preferably after day 5 of the menstrual cycle. 
( CA-125 is a blood test otherwise referred to as a "tumor marker". It detects the level of cancer in your blood)

Men:
Breast self-exam- Once a month is recommended 
Clinical breast exam- Every 6-12 months starting at age 35.
Mammogram- Can be considered by age 40, then yearly if gynecomastia and/or glandular breast density is present.
***It is recommended that men with BRCA alterations adhere to population screening for prostate cancer, which include yearly PSA and DRE exams. 
( PSA = Prostate-Specific Antigen     DRE = Digital Rectal Exam )   

soooo... Basically I've been poked and prodded every six months for the last couple years. I was taken off birth control pills, because the risk for breast cancer is higher when taking them due to the added hormones to your body. (However, it does help protect against Ovarian cancer though) 

Early detection is the key! So even though it sucks... It's totally worth it & it's really not THAT bad. Women should be getting yearly check ups regardless, so it just switches to every 6 months instead. Sure, it's a little more invasive, but it puts your mind at ease and gives you a fighting chance!

There are measures that can be taken to greatly reduce your risk of these cancers and that is where I will start my next post tomorrow.

*****Note for the gentlemen: I'm terribly sorry to have used words such as "transvaginal"  "gynecomastia" and "Rectal"*****

                                           Image gathered from: http://www.thaibreast.org/index.php?mo=3&art=42084739


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