Recently, I went to a presentation on Genetic Testing and took some notes to share. I know that me having Triple Negative Breast Cancer and being diagnosed at under age 50, I have an increased risk of inheriting a BRCA1 or BRCA2 faulty gene. I have not been tested yet mainly because of financial reasons. I am learning more and more about heredity breast and ovarian cancers, and I'm coming to terms that "power of knowledge" can have an effect on my future health. I know how serious this is to get tested and to know one way or another so I can be proactive if there is a risk.
Heredity Breast and Ovarian Cancer (HBOC) syndrome is an inherited condition that causes an increased risk for ovarian, breast, pancreatic and prostrate cancer. The vast majority of hereditary breast and ovarian cancer is due to an alteration or gene mutation in either the BRCA1 or BRCA2 genes. These genes mutations can be inherited from either your mother or father.
Sporadic Cancer- Occurs by chance
Familial Cancer- Not inherited. Combination of genetic and environmental risk factors.
Hereditary Cancer- Altered gene passed down from parent to child.
Genetics
Evaluate pedigree going back 3-4 generations:
❍—————— ————❍————
Anna Keenan ❙ ❙ ❙ Bertha
G. Grandmother ❙ ❙ ❙ Great aunt
Age 58, Lung Cancer ❙ ❙ ❙ Breast Cancer
❍ ——— — ————❍ ❍
❙ ❙ Hulda
❙ ❙ Grandmother, 62
❙ ❙ Cancer of Spine/Tailbone, Buttocks
❒——— ————————❍
Joseph W. Stukenborg ❙
Father, 59 ❙
Melanoma ❙
❍ Melissa Paskvan (my profile)
Me, 41
Triple Negative Breast Cancer
11-18% TNBC is BRCA Positive
Who gets hereditary cancer testing? Having a significant family history of breast and/or ovarian cancer
- Breast Cancer diagnosed before age 50
- Ovarian Cancer
- 2 breast cancers
- Male breast cancer
- Triple Negative Breast Cancer
- Ashkenazi Jewish ancestry with heredity cancer
- 3 or more hereditary cancers on one side of family
- Previous hereditary mutation identified
Follow-up Appointment- Must have referral
1) Diagnosed under age 45
2) Preventative - Have 2 or more Family History
- Early 20's - Get genetic testing if heredity.
Additional screenings and treat as being positive until she gets tested.
- Children of diagnosed parent - Child should start screening at 10 years
younger than parent's age at diagnosis.
Testing
- Blood test to determine if a woman is "highly susceptible" to breast and ovarian cancers.
- Only way to identify gene mutation carriers of BRCA1 or BRCA2
- Inform yourself on medical management decisions to reduce cancer risk
- Determine family members risk
- If gene mutation in immediate family, 50% chance of inheriting same gene mutation
BRCA1 } Accurate
Myriad - More reliable results
- Less than 3% inaccuracy
GINA - Genetic Information Non-Discrimination Act
- Protects Employment and Health Insurance
Bright Pink - The Little Bright Book A national non-profit organization providing education and support to young women who are at high risk for
breast and ovarian cancer. (Young 20-30's ladies trying to decide on pursuing testing)
BRCA Positive Result options
1. Increase Surveillance
- Monthly breast self exams at age 18, clinical breast exams twice a year at age 25
- Yearly screening with both mammogram and MRI starting at age 25
- Pelvic exam twice a year at age 35
- Ovarian ultrasound and CA-125 levels in blood twice a year
2. Medicine risk reduction
- Tamoxifen reduce breast cancer risk up to 53%
- Birth control pills reduce ovarian cancer risk up to 60%
3. Preventative Surgery
- Preventive mastectomy (breasts removal) reduce breast cancer risk up to 90%
- Preventive Oophorectomy (ovaries and fallopian tubes removal) reduces risk of ovarian cancer up to 96% and breast cancer risk up to 68%
USPSTF - Law for Affordable Care
Qualify for 100% Coverage
BRCA 1, Diagnosis Rate \
50-80% Breast Cancer \
40-60% 2nd Breast Cancer \
30-45% Ovarian Cancer \
\ All Connected
/
Colon Cancer /
Pancreatic Cancer /
Male Breast Cancer /
Prostate Cancer /
In May 2013, 37yr. old actress, Angelina Jolie, made a choice to have a preventative double mastectomy knowing she carried the BRCA1 gene.
"For any woman reading this, I hope it helps you to know you have options," Jolie wrote. "I want to encourage every woman, especially if you have a family history of breast or ovarian cancer, to seek out the information and medical experts who can help you through this aspect of your life, and to make your own informed choices." - Angelina Jolie
