Know your risk. Knowledge is power.
an opportunity to make an informed decision.
breast cancer risk
General Population
13% of women will develop breast cancer and 1.3% ovarian cancer sometime during their lives. 0.2%-2% of men will inherit the harmful BRCA mutation. Male breast cancer is very rare and is considered as a high risk (at any age) as part of your family’s cancer history (familial risk). Only about 1% of the general population of men will develop breast cancer by the age of 70.
BRCA - BReast | CAncer Susceptibility Gene. There are two BRCA genes, BRCA1 and BRCA2.
BRCA SA, our story
When our mother was diagnosed with breast cancer at 42, my sisters and I embarked on our BRCA journey. However, in South Africa we encountered a significant lack of resources and information about the BRCA gene, leaving us feeling lost and without guidance.
Our experience was incredibly changeling and frustrating. We are determined to share as much information as possible from our personal journey and provide support to others facing similar circumstances. Understanding your risk is crucial. Knowledge empowers us all. Know your risk, knowledge is power! Email us for support.
BRCA1 mutation
55%-65% of women will develop breast cancer by age 70 years. 39% of women will develop ovarian cancer by the age of 70 years.
BRCA2 mutation
45% of women will develop breast cancer by age of 70 years. 29% of women will develop ovarian cancer by the age of 70 years.
General Population
• BRCA (chromosome 17) and BRCA2 (chromosome 13) are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell’s genetic material.
• When either of these genes is mutated, the tumor suppressor protein is unable to help repair the DNA and cells are more likely to develop additional genetic alterations that can lead to cancer.
• Specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast cancer and ovarian cancers, and they have been associated with increased risks of several additional types of cancer. Pancreatic, prostate, and melanoma. Together BRCA1 and BRCA2 mutations account for about 20-25% of hereditary breast cancers and about 5- 10% of all breast cancers.
• Breast and ovarian cancers associated with BRCA1 and BRCA2 mutations tend to develop at younger ages (pre-menopausal) than their non-hereditary counterparts.
Important to note: Inheriting a BRCA mutation does not mean the person has breast and/or ovarian cancer – just an increased risk.
Both men and women who inherit a harmful BRCA1 or BRCA2 mutation, whether they develop cancer themselves or not, may pass the mutation on to their sons and daughters. Each child has a 50% chance of inheriting a parent’s mutation. Your siblings might also have inherited the BRCA
gene mutation.
criteria for
testing
• Breast cancer ≤50
• Male breast cancer (any age)
• Multiple primary breast cancers
• Triple-negative breast cancer (ER-,
PR-, HER2-) ≤60
• Two or more relatives with breast
cancer ≤50
• Three or more relatives with breast
cancer (any age)
• Breast cancer and ovarian cancer,
fallopian tube, or primary
peritoneal cancer (same person/family)
• Ovarian cancer
• Pancreatic cancer with breast or
ovarian cancer (same family)
• Prostate cancer (metastasized)
• Ashkenazi Jewish ancestry
• A relative with a gene mutation in
breast, ovarian, or other susceptible
genes
• A previously identified BRCA1 or
BRCA2 mutation in the family
genetic
testing
• The BRCA gene test is a blood test that uses DNA analysis to identify harmful changes in BRCA1 and
BRCA2
• Offered to people who are likely
to have an inherited mutation,
based on personal or family history,
or who have specific types of breast
cancer
• In South Africa testing is offered for
the three most common mutations
seen amongst coloured and Xhosa
women, Dutch heritage, Ashkenazi Jews
• The simplest and lowest
cost test uses positive results from a
blood relative and checks only for
the single mutation known in the
family
• If no relative had disclosed positive
test results, a full gene test of the
entire sequence of both BRCA and
BRCA2 can be performed
what is genetic
counseling?
A process whereby patients or relatives at risk of an inherited disorder, are given psycho-social support and advise on:
• The probability of developing the disease
• The probability of transmitting the disease
• The options available for management or treatment of the disease
Women with high-risk BRCA mutations may choose to undergo preventative surgery to help reduce the risk of developing breast cancer.
A preventative double mastectomy (bilateral prophylactic mastectomy) is the surgical removal of both breasts before cancer has a chance to develop.
Such preventative (or prophylactic) surgeries decrease the risk of developing breast cancer by about 90%.
For women who have BRCA1 or BRCA2, gene mutations removal of ovaries and fallopian tubes is recommended between the ages of 35 and 40 once a woman has had children.
Currently, there are no effective screening techniques for ovarian cancer. Patients with a high risk should go for regular check-ups with their healthcare provider, if there are any changes it can be detected early on. Early detection is key.
Men with BRCA mutations have a 20% lifetime risk of prostate cancer, 6% risk of male breast cancer, and elevated risks of pancreatic cancer and melanoma.
criteria for
testing
• Identify patients at risk for
hereditary cancers
• Make health care professional
familiar to be able to refer high-risk
patients
• Support physicians and patients in
all kinds of counseling mainly pre-
and post- genetic testing
• Offer information related to
hereditary breast and/or ovarian
cancer resulting from mutations in
BRCA genes.
• Estimate risk
• Offer appropriate testing and
correct test interpretation
• Provide emotional support
Where can Genetic
Testing be done?