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Cancer is deeply linked to a person’s genetic material; it occurs when a mutation of the DNA leads to abnormal/uncontrolled cell growth. Researchers have identified several genes that, when abnormal, are major risk factors for certain kinds of cancer: BRCA1, BRCA2, and PALB2. Cancer is heritable, making one’s family history important to understanding individual risk.
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BRCA1 is linked to an increased risk of breast, ovarian, cervical, uterine, prostate, pancreatic and colon cancers, as well as a very aggressive type of breast cancer (“triple-negative” breast cancer). BRCA2 is linked to an increased risk of breast, ovarian, gallbladder, bile duct and melanoma cancers. Everyone has the BRCA genes, which help regulate cell growth. Mutations, therefore, mean that unregulated cancerous growth may occur.
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The average woman has a 1 in 8 chance of developing breast cancer over her lifetime. Women who possess mutations in the BRCA1 or BRCA2 genes can have a risk as high as 4 in 5.¹ Mutations of these genes are identifiable through a BRCA gene blood test.
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Another gene linked to an increased breast cancer risk—it is often considered a “partner” to the BRCA2 gene, but it can create higher risk even in patients with normal BRCA genes. Depending on age, a woman with an abnormal PALB2 gene has a risk of breast cancer anywhere from 5 to 9 times higher than normal (lower as she gets older).² Testing for PALB2 mutations does exist, but it is not as common as testing for the BRCA gene mutations.
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Individuals with a personal or family history of breast, ovarian or other relevant cancers should be tested. The closer the relation to cancer, the more important it is to test. Someone with a parent, sibling or child who has had breast cancer has a significantly higher risk.³ Individuals with an unknown family history should also consider being tested.
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Your testing center may ask you to go through an initial genetic counseling session to understand your family history and provide context for your results. Your blood will be drawn for analysis, and you can typically expect results back in about 2-4 weeks.⁴ Costs vary depending on your insurance coverage; many plans do cover genetic testing, but it’s a good idea to look into your own policy before pursuing it.
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If your test results show that you have an abnormal BRCA1, BRCA2 or PALB2 gene, don’t panic—it doesn’t necessarily mean you will develop cancer. Now that you know, you can actively take steps to reduce your risk! Discuss the kinds of procedures, treatments and lifestyle changes you can pursue with your OB/GYN doctor, genetic counselor(s), etc. You might also discuss your options with your loved ones/support network to help you make decisions and process the information.
Crystal Run Healthcare is a New York healthcare provider offering everything from primary care to specialties like gynecology and oncology. We can help patients identify gene mutations and mitigate their risk of breast and ovarian cancers. You can easily book an appointment with many Crystal Run Healthcare physicians through the website or contact us if you need additional assistance.
1. https://mysupport360.com/blog/the-difference-between-brca1-and-brca2/ 2. https://www.breastcancer.org/research-news/abnormal-palb2-gene-increases-risk
3. https://www.breastcancer.org/risk/factors/family_history 4. https://www.breastcancer.org/symptoms/testing/genetic/facility_cost
Summary The risks of breast, ovarian and other cancers have been linked to abnormal mutations in genes like BRCA1, BRCA2, and PALB2. Learn more about how these genes work and how testing can help you understand your own risk.