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BRCA1 and BRCA2
Genetic mutations increasing the risk for cancers
Drexel University
NURS 578
Tammy Smith SNP
What is BRCA
BRCA is a human gene that produces tumor suppressing
proteins. There are two different genes, BRCA 1 and BRCA 2
The proteins produced by BRCA genes repair damaged
DNA, stabilizing the cell’s genetic material
In some people, the BRCA gene(s) mutates, no longer
functioning normally, and therefore no longer protecting the
damaged cell from developing into cancer
Why do we test for BRCA
genes?
Non-Ashkenazi Jewish Women
*2- first degree relatives with breast cancer (BC), 1 of whom
was diagnosed at age 50 or younger
*A combination of 3 or more first degree relatives with BC
regardless of age
*A combination of both breast and ovarian cancer among 1st
and 2nd degree relatives
*A 1st degree relatives with bilateral BC
*A combination of 2 or more 1st or 2nd degree relatives with
ovarian cancer (OC), regardless of age
*A 1st or 2nd degree relative with both BC and OC at any age
*A male relative with breast cancer
Ashkenazi Jewish Women
*Any 1st degree relative with breasts or ovarian cancer
Table information from Decherney
What does BRCA positive
indicate?
A patient who is BRCA positive is at increased
risk for
Breast cancer
Ovarian cancer
Colon cancer
Prostate cancer
Pancreatic cancer
Statistics
12% of women in the general population will develop breast
cancer
5-10% of all breast cancers are related to a BRCA gene
mutation
55-65% of women with BRCA1 will develop breast cancer by
the age of 70
45% of women with BRCA2 will develop breast cancer by
the age of 70
39% of women with BRCA1 and 11-17% of women with
BRCA2 will develop ovarian cancer
How do we test?
All patients considering BRCA testing should be referred to a
genetic counselor for education regarding the implications,
risks, and limitations involved
BRCA testing is done by sending a DNA sample via either
blood or sputum to a lab , results can take up to two weeks
What do we do with the
information?
For patients with no obvious cancer
Patients are placed on a more frequent screening schedule that
begins earlier, at least 10 years younger than the youngest
relatives diagnosed age. Clinical breast exams should be
performed every 6 months and bilateral mammograms every
year.
Risk reducing medications such as Tamoxifen, which lowers
hormone levels
Risk reducing surgery such as mastectomy and salpingooophorectomy
What do we do with the
information?
For patients with a known related cancer
A more radical surgical and medical approach may be taken to
prevent reoccurrences of cancer
For instance, performing a bilateral mastectomy rather than a
lumpectomy. Or, giving chemo, tamoxifen and radiation rather
than one or the other
Cost of testing
Testing can range from several hundred to several thousand
dollars
Insurance companies policies also vary from no coverage to
full coverage if certain criteria are met
Case study
R. S., 38 year old BRCA +, female who had a screening mammogram followed
by ultrasound, and an in-office ultrasound guided needle biopsy of a mass in
the left breast, 2:00 position. Biopsy was positive for cancer. Biopsy has been
sent for further testing
Fam Hx: Mother diagnosed with breast cancer at 46 yo, living; Grandfather
had breast cancer, unsure of age at diagnosis, deceased
PMH: Healthy, no prior surgeries and no medications, 2 healthy living
daughters, ages 8 and 6.
Bil Breasts: Dense tissue throughout, without palpable masses, skin changes,
dimpling, or discharge. Thick inframammary fold bil. No palpable
lymphnodes.
RS states genetic counseling was done at the time of BRCA testing. She was
counseled on all her options at that time and decided to continue with diligent
screening.
Case study
Surgical options for treatment of current breast cancer were
reviewed, including lumpectomy, nipple and tissue sparing
mastectomy, or total mastectomy of one or both breasts.
RS chose to have nipple and tissue sparing mastectomy on
the left with reconstruction. RS will consider mastectomy on
the R in the future.
RS was referred to medical oncology and radiation oncology
for treatment plans. RS was also referred to her gynecologist
for counseling for salpingo-oophorectomy.
Case study
For comparison of how this information can be used, I
encountered another BRCA + female patient, with no
obvious cancer who was opting for a full mastectomy and
hysterectomy. She came to the office to schedule her
mastectomy. She has one child, and stated she doesn’t want
her son to see her suffer like her mother did.
Role of the APRN
Provide assessment, testing, counseling, and referral when
needed
Collaborate with peers and ancillary teams
Educate patient with options, reassurance and support
Questions?
References
Beckman, C., Ling, F. W., Herbert, W., Laube, D. W., Smith, R. P., Casanova, R.,
Chuang, A., Goepfert, A.R., Hueppchen, N. A., & Weiss, P. M. (2014). Obstetrics and
Gynecology, 7th ed. Lippincott Williams & Wilkins. Baltimore, MD.
Decherney, A. H., Nathan, l., Laufer, N., Roman, A. S. (2013). CURRENT Diagnosis &
Treatment: Obstetrics & Gynecology, 11th ed. The McGraw-Hill Companies, Inc
Mayo Clinic Staff. (2013). Tests and Procedures, BRCA Gene Test for Breast Cancer.
Mayo Clinic. Retrieved from http://www.mayoclinic.org/tests-procedures/brca-genetest/basics/results/prc-20020361
National Cancer Institute. (2013). BRCA1 and BRCA2: Cancer Risk and Genetic Testing.
National Cancer Institute at the National Institute of Health. Retrieved from
http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA
US Preventive Services Task Force. (2013). Risk Assessment, Genetic Counseling, and
Genetic Testing for BRCA-Related Cancer: Systematic Review to Update the US
Preventive Services Task Force Recommendation. Retrieved From
http://www.uspreventiveservicestaskforce.org/uspstf12/brcatest/brcatestes101.pdf