What Can I Do To Reduce My Risk Of Developing Breast Cancer Or Ovarian Cancer If I Have A Brca Gene Mutation
A prophylactic, bilateral mastectomy, which is the preventive surgical removal of both breasts, can lower the risk of breast cancer by more than 90%. Only about 3% of breast cancers associated with BRCA mutations are diagnosed before age 30, so most women with a BRCA mutation could consider surgery after 30. However, bilateral mastectomy is an invasive and irreversible procedure.
A prophylactic salpingo-oophorectomy, which is the preventive surgical removal of the ovaries and fallopian tubes, can lower the risk of ovarian cancer by approximately 90%. It may also help lower the risk of breast cancer by 50% for women who have not been through menopause. A special procedure to look for microscopic cancer in the ovaries and fallopian tubes is recommended after this surgery. Deciding whether to have preventive surgery to lower your risk of developing breast or ovarian cancer is a very personal decision. Your health care team and genetic counselor can help you understand the risks and benefits, based on your health, type of BRCA mutation, and family history of cancer.
Taking oral contraceptives, or birth control pills, for 5 years may lower the risk of ovarian cancer for women with BRCA1 orBRCA2 mutations by up to 50%. However, this must be balanced by a potential slight increase in the risk of breast cancer. Learn more about risk reduction options in this site’s Ovarian Cancer section.
Nccn Recommendations For Breast Cancer Risk Management: Moderate
NCCN recently published recommendationsfor moderate-risk genes . Annual breast MRI as part of routinebreast cancer screening is recommended for individuals with a mutation in ATM, CHEK2, and PALB2 genes due to the >20 percent lifetime risk of breastcancer. Age to begin screening is not specified and may be based on personalrisk factors and family history. For example, breast cancer screening in thegeneral population is recommended 10 years prior to the youngest age ofdiagnosis in the family or at age 40. Women at an increased risk should discussthis information with their physicians to establish an appropriate screeningroutine.
What Should I Do If I Am Concerned
If you are concerned about a history of breast cancer in your family you should see your GP. They will want to take a family history. Before seeing your GP, it is a good idea to try to find out who in your family has been diagnosed with breast cancer , at what age they were diagnosed and their exact blood relationship to you.
Your GP will wish to know any relevant details about first- and second-degree relatives .
- First-degree relatives are mother, father, daughters, sons, sisters, or brothers.
- Second-degree relatives are grandparents, grandchildren, aunts, uncles, nieces, nephews, half-sisters and half-brothers.
On the basis of the family history, it is usually possible for your GP to assess your risk as either near-normal, moderate, or high. If your risk is moderate or high then, if you wish, you may be referred to a doctor who is a specialist for further assessment and counselling.
For details of the factors used to assess the risk, see the website of the National Institute for Health and Care Excellence under ‘Further reading & references’, below. It has produced guidelines which doctors can refer to when assessing the risk of breast cancer for individual women.
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Can Hboc Be Avoided
There are options available for people with HBOC who are interested in having a child and reducing that childs risk of this hereditary syndrome. Preimplantation genetic diagnosis is a medical procedure done along with in-vitro fertilization . It allows people who carry a specific known genetic mutation to reduce the likelihood that their children will inherit the condition. For PGD, a womans eggs are removed and fertilized in a laboratory. When the embryos reach a certain size, 1 cell is removed and tested for the specific hereditary condition. The parents can then choose to transfer the embryos that do not have the mutation. PGD has been used for over 2 decades for several hereditary cancer syndromes. However, it is a complex procedure with financial, physical, and emotional factors to consider before starting. For more information, talk with an assisted reproduction specialist at a fertility clinic.
Not Everyone Needs Genetic Testing
If there is a strong family history and you have an ethnic background that puts you at risk for a particular mutation, then it may be worth your while to be tested, says Ross. But testing all your genes to find out all your mutation may not be such a good idea. They say that a third of cancers are inherited but we only know about 5 to 10 percent of cancers with specific genes. Without knowing where to look, the results are hard to interpret.
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Is Brca Testing Covered By Insurance
The costs associated with BRCA testing can be substantial; however, if you meet the criteria to be at risk for a BRCA gene mutation, your insurance should cover your costs. In fact, the Affordable Care Act considers genetic counseling and BRCA1 and BRCA2 mutation testing for individuals at high risk a covered preventive service.
Talk to your primary care provider about utilizing an in-office questionnaire to determine if you might be a candidate for genetic counseling and possible BRCA testing. Your insurance carrier can provider further criteria to your counselor or you to determine your share of costs, if any.
If you were to fully pay out-of-pocket for BRCA testing, the cost could run from $250 to $500, as several companies now offer BRCA testing. However, testing for many breast cancer-related genes may drive the cost up to thousands of dollars. Test results typically take 2 to 4 weeks.
Medicare in the U.S. covers BRCA1 and BRCA2 testing for women who have signs and symptoms of breast, ovarian, or other cancers that are related to these mutations, but will not pay if you have no signs or symptoms.
If you cannot afford BRCA testing, but you need it, speak to your healthcare provider who can direct you to possible financial resources. Some genetic testing companies may offer it at no cost if you meet certain criteria. Typically, direct-to-consumer testing is not covered by insurance, but it might worth checking with your insurance company.
Is My Genetic Information Private
One concern you may have about going forward with any type of genetic testing is your privacy. Your genetic information is protected under federal and state laws, and, as of April 2018, you cannot be denied health insurance based on your results.
The Genetic Information Nondiscrimination Act is a federal law that prohibits health insurance and employers from using your genetic information. Your employers cannot fire you due to genetic testing, and your health insurance can’t raise your rates or deny you coverage.
However other insurance, such as life, disability, or long-term care insurance may not be subject to these privacy laws. You should consider discussing this important topic with your genetic counselor, who will have updated privacy laws and guidelines.
You are able to submit genetic testing anonymously with a code and pay cash for the test, if privacy is a top concern for you.
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What To Do If You’re Concerned About Your Family History
If youre concerned about your family history of breast cancer, you may be able to have a family history risk assessment. A family history risk assessment will try to find out if you are at general population, moderate or high risk of breast cancer.;Listen to a discussion of family history FAQs with one of our nurses.
The first step is to talk to a healthcare professional. Who you should talk to first will depend on your situation.
- If you have not had breast cancer yourself, you can talk to your GP , who will ask about your family history and may refer you to a specialist family history clinic or a regional genetics centre .
- If you have been diagnosed with breast cancer yourself, you can speak to a member of your specialist breast care team who will be able to refer you to a specialist family history clinic or a regional genetics centre if appropriate.
You should be referred for further assessment of your risk if:
- you or one close relative has had breast cancer before the age of 40
- you or one close relative has had breast cancer in both breasts
- you have had breast cancer known as triple negative
- you and one close relative have had breast cancer
- two or more close relatives have had breast cancer
- you have close relatives who have had breast cancer and others who have had ovarian cancer
- a male relative has had breast cancer
- you are of Ashkenazi Jewish ancestry.
You might also be referred if:
Several Of The Most Common Cancers Can Be Attributed To Inherited Genetic Mutations
Ovarian, breast, pancreas, stomach, colon, prostate, endometrial, kidney, and melanoma skin cancers are thought to have a significant inherited piece, says Ross. There are other rarer cancers too. Some genetic mutations, like the ones in BRCA1 and 2 genes, can increase your risk for several types of cancer, including breast, ovarian, pancreatic, prostate, and melanoma.
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Brca1 And Brca2 Genes
In 1990, DNA linkage studies on large families with the above characteristics identified the first gene associated with breast cancer. Scientists named this gene “breast cancer 1” or BRCA1 . BRCA1 is located on chromosome 17. Mutations in the gene are transmitted in an autosomal dominant pattern in a family.
Since it was clear that not all breast cancer families were linked to BRCA1, studies continued and in 1994, scientists discovered another gene , and named it BRCA2. BRCA2 is located on chromosome 13. Mutations in this gene are also transmitted in an autosomal dominant pattern in a family.
Both BRCA1 and BRCA2 are tumor suppressor genes that usually have the job of controlling cell growth and cell death. Everyone has two BRCA1 and two BRCA2 genes . When a person has one altered or mutated copy of either the BRCA1 or BRCA2 gene, their risk for various types of cancer increases.
Causes Of Hereditary Breast Ovarian Cancer Syndrome
Both copies of a tumor suppressor gene must be altered or mutated before a person will develop cancer. In HBOC, the first mutation is inherited from either the mother or father and is therefore present in all cells of the body. This is called a germline mutation.
Whether a person who has a germline mutation will develop cancer and where the cancer will develop depends upon where the second mutation occurs. For example, if the second mutation is in the ovary, then ovarian cancer may develop. If it is in the breast, breast cancer may develop. The process of tumor development actually requires mutations in multiple growth control genes. Loss of both copies of BRCA1 or BRCA2 is just the first step in the process. What causes these additional mutations to be acquired is unknown. Possible causes include chemical, physical, or biological environmental exposures, or chance errors in cell replication.
Some individuals who have inherited a germline BRCA1 or BRCA2 mutation never develop cancer because they never get the second mutation necessary to knock out the function of the gene and start the process of tumor formation. This can make the cancer appear to skip generations in a family, when, in reality, the mutation is present. Persons with a mutation, regardless of whether they develop cancer, however, have a 50/50 chance to pass the mutation on to the next generation.
See also: Founder’s Effect
Should I Be Worried About Inherited Breast Or Ovarian Cancer
In general, only about 5 to 10 percent of breast or ovarian cancers are due to inherited risks from your mother or father. Most cancers, including breast and ovarian cancers, are due to mutations that occur throughout your lifetime due to environmental toxins or chemicals, viruses, or some other unknown cause.
However, if you have strong family history of breast or ovarian cancer or have a man in your family who has had breast cancer or prostate cancer you should be sure to explain this to your doctor, who can assess if you need genetic counseling. This is especially important if the family member was less than 50 years of age at the time of diagnosis.
Multiple family members with these cancers and a single family member with multiple types of cancer may mean there is genetic link. Pancreatic and colon cancer can also be inherited through genes.
Understanding Your Risk Of Breast Cancer
Several breast cancer risk assessment tools have been developed to help a woman estimate her chance of developing breast cancer. The best studied is the Gail model, which is available on the National Cancer Institutes website at www.cancer.gov/bcrisktool. After you enter some personal and family information, including race/ethnicity, the tool provides you with a 5-year and lifetime estimate of the risk of developing invasive breast cancer. Because it only asks for information about breast cancer in first-degree family members and does not include their ages at diagnosis, the tool works best at estimating risk in women without a strong inherited breast cancer risk. For some women, other ways of determining the risk of breast cancer may work better. For example, women with a strong family history of breast cancer risk should consider talking to a genetic counselor.
It is important to talk with your doctor about how to estimate your personal risk of breast cancer and to discuss risk-reducing or prevention options .
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Not All Targetable Mutations Are Somatic
EGFR mutations with lung cancer are usually somatic mutations acquired in the process of the cancer developing. Some people treated with EGFR inhibitors develop a resistance mutation known as T790M. This “secondary” mutation allows the cancer cells to bypass the blocked pathway and grow again.
When T790M mutations are found in people who have not been treated with EGFR inhibitors, however, they could represent germline mutations, and people who have germline T790M mutations and have never smoked are more likely to develop lung cancer than those without the mutation who have smoked.
Are Harmful Variants In Brca1 And Brca2 More Common In Certain Racial/ethnic Populations Than Others
Yes. The likelihood of carrying an inherited mutation in BRCA1 or BRCA2 varies across specific population groups. While the prevalence in the general population is about 0.2%0.3% , about 2.0% of people of Ashkenazi Jewish;descent carry a harmful variant in one of these two genes and the variants are usually one of three specific variants, called founder mutations. Other populations, such as Norwegian, Dutch, and Icelandic peoples, also have founder mutations .
Different racial/ethnic and geographic populations also tend to carry different variants in these genes. For instance, African Americans have BRCA1 variants that are not seen in other racial/ethnic groups in the United States . Most people of Ashkenazi Jewish descent in the United States who carry a BRCA variant have one of three specific variants . In the Icelandic population, a different variant in BRCA1 is common among those who inherit a mutation in BRCA1.;
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Hereditary Breast Cancer: Guide For Health Pros
Breast cancer is the second mostcommonly diagnosed cancer in women , but thedeath rates for breast cancer have steadily decreased in women in recent years.This decrease is attributable, in part, to improvements in both early detectionand treatment.
The genetic risk assessment service at UT Southwestern SimmonsComprehensive Cancer Center offers testing and genetic counseling for breastcancer and all other identified cancers. Based on your personal and familyhistory of cancer, our genetic counselors can identify your level of risk,determine if genetic testing is appropriate, and provide guidance for an earlydetection and prevention strategy.
How Is Hboc Identified
Mutations in the BRCA1 or BRCA2 genes can be identified through a blood or saliva test. The usual method of testing, called standard gene sequencing, can find most BRCA mutations. There are other types of mutations called rearrangements, which include deletions or duplications in BRCA1 and BRCA2 that also may cause an increased risk for these cancers. Testing is also available for large rearrangements in BRCA1 and BRCA2.
After initial BRCA1 and BRCA2 genetic testing, additional testing may be recommended if:
- The results were negative, meaning no genetic mutation was detected
- A variant of uncertain significance was detected, which means that there is a genetic change, but it is not known how that change could affect cancer risk
Talk with your health care team and/or a genetic counselor for more information.
Most, but not all, insurance providers, including Medicare and Medicaid, cover the cost of complete BRCA1 and BRCA2 testing. Many genetic specialists offer multigene panels, which may include 6, 20, 40, or more genes depending on your personal and family history. The multigene panel tests may often be done at the same time as BRCA1 and BRCA2 testing. Talk with your genetic counselor for more information on the type of testing you will have and your insurance coverage before testing begins.
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