Somatic Vs Germline Mutations
Distinguishing between somatic and germline mutations is very important, especially with the advent of targeted therapies for ovarian cancer.
Germline mutations are hereditary and can be passed from a parent to his or her offspring. They are present in every cell in the body. These gene mutations can be either autosomal dominant or autosomal recessive. With autosomal dominant genes, only one gene needs to be mutated to increase the risk of cancer.
Gene mutations themselves do not cause cancer, but rather increase the risk or confer a genetic predisposition. This is easier to understand by noting that many of these mutations occur in tumor-suppressor genes. When the proteins produced by these genes do not function properlythat is, do not repair or eliminate damaged cellsthe cells may develop into cancer cells. In this case, the chance of developing cancer is higher. Germline mutations may affect treatment, a focus of this article.
Hereditary cancer genes don’t directly cause cancer. What is inherited is the predisposition to develop cancer.
Not all genetic risk is likely related to specific gene mutations or alterations. A combination of genes or interactions between different common genes may also lead to greater risk. Studies known as genome-wide association studies have identified loci associated with ovarian cancer.
Does Health Insurance Cover The Cost Of Genetic Testing For Brca1 And Brca2 Variants
People considering BRCA1 and BRCA2 variant testing may want to confirm their insurance coverage for genetic counseling and testing. Genetic counselors can often help answer questions about insurance coverage for genetic testing.
Some genetic testing companies may offer testing for inherited BRCA1 and BRCA2 variants at no charge to patients who lack insurance and meet specific financial and medical criteria.
Preventive Surgery Prophylactic Mastectomy And Prophylactic Oophorectomy
Bilateral prophylactic mastectomy is the removal of both breasts to prevent breast cancer.
Bilateral prophylactic mastectomy may:
- Lower the risk of breast cancer by 90 percent or more in women who have a BRCA1/2 inherited gene mutation
- Add 3-5 years to the lifespan of a 30-year old woman who is a BRCA1/2 carrier
Some women choose this option because it eases their worries about getting breast cancer. It may also make them feel they have done all they can do to lower their risk of breast cancer.
If you are a BRCA1/2 carrier, talk with your health care provider about the pros and cons of each risk-lowering option and make the decision thats right for you.
Learn about breast reconstruction after mastectomy.
Prophylactic oophorectomy is the surgical removal of the ovaries to prevent ovarian cancer. It can lower the risk of ovarian cancer by 70 to over 90 percent .
The NCCN recommends women with a BRCA1/2 inherited gene mutation , have an oophorectomy between ages 35-40 to lower their risk of ovarian cancer .
BRCA2 carriers tend to be diagnosed with ovarian cancer at a later age than BRCA1 carriers . So, BRCA2 carriers who have had bilateral prophylactic mastectomy may delay oophorectomy until age 40-45 .
Prophylactic oophorectomy may also lower the risk of breast cancer in BRCA1/2 carriers .
For premenopausal women, prophylactic oophorectomy leads to early menopause.
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Weighing The Risks And Benefits Of Genetic Testing For High
A health care provider or genetic counselor can help you decide whether genetic testing is right for you and your family.
Testing for a BRCA1/2 inherited gene mutation only requires a blood or saliva sample, but there are risks and benefits to consider before testing. There can be physical, emotional and financial impacts of knowing your genetic status.
Testing costs are usually covered by health insurance for people who fall into one of the categories above .
Learn more about genetic testing.
Inherited Cancer Risk: Brca Mutation
Can you inherit risk for breast cancer? Sometimes. Everyone has two types of breast cancer genes in every cell of their body. When functioning properly, BRCA1 and BRCA2 repair DNA, keep other genes healthy, and prevent cancerous changes in the cells.
When a mutation damages either of these genes, the persons risk of cancer increases. Inheriting damaged copies of the BRCA1 or BRCA2 genes can increase the risk for breast cancer and ovarian cancer in women and the risk for breast and prostate cancer in men, as well as other cancers.
David Euhus, M.D., Johns Hopkins Professor of Surgery, reviews what you need to know about genetic factors in breast cancer, who may be at risk, and how people with BRCA mutations can work with their doctors to guard against cancer.
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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.
What Is Hereditary Breast And Ovarian Cancer
A diagnosis of Hereditary Breast and Ovarian Cancer Syndrome is considered when there are multiple cases of breast cancer and/or ovarian cancer on the same side of the family. The chance that a family has HBOC increases in any of these situations:
1 or more women are diagnosed at age 45 or younger
1 or more women are diagnosed with breast cancer before age 50 with an additional family history of cancer, such as prostate cancer, melanoma, and pancreatic cancer
There are breast and/or ovarian cancers in multiple generations on the same side of the family, such as having both a grandmother and an aunt on the fathers side both diagnosed with these cancers
A woman is diagnosed with a second breast cancer in the same or the other breast or has both breast and ovarian cancers
A male relative is diagnosed with breast cancer
There is a history of breast cancer, ovarian cancer, prostate cancer, and/or pancreatic cancer on the same side of the family
Having Ashkenazi Jewish ancestry
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What Are The Risk Factors For Breast Cancer
Being a woman and getting older are the main risk factors for breast cancer.
Studies have shown that your risk for breast cancer is due to a combination of factors. The main factors that influence your risk include being a woman and getting older. Most breast cancers are found in women who are 50 years old or older.
Some women will get breast cancer even without any other risk factors that they know of. Having a risk factor does not mean you will get the disease, and not all risk factors have the same effect. Most women have some risk factors, but most women do not get breast cancer. If you have breast cancer risk factors, talk with your doctor about ways you can lower your risk and about screening for breast cancer.
Hereditary Breast And Ovarian Cancer
About 5% to 10% of breast and 10% to 15% of ovarian cancers are hereditary. Hereditary cancer means cancer runs in your family, and could be caused by a change in certain genes that you inherited from your mother or father.
Genes act as instructions and contain information to build and maintain cells in the body. Humans inherit one set of genes from their mother and one set of genes from their father.
Genes are made up of DNA. DNA tells the body what traits will be passed on from parents to children, such as blood type, hair color, eye color, and risks of getting certain diseases.
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Surgery Is Not The Only Option For Brca Carriers
Having a bilateral mastectomy and having your ovaries and/or fallopian tubes removed is not the only option. If you have a BRCA gene mutation, you can opt for regular screenings and other preventative measures until youre ready for operation. This probably depends on the country youre living in and your health insurance, but there are always options. The options available to you should be presented to you during your genetic counseling.
But sadly the best preventative measure against breast cancer is a mastectomy, and even that doesnt completely eliminate risk, it only reduces it. Because they cant remove every single cell of breast tissue, there is still a 2-5 % risk of breast cancer after a mastectomy.
Salpingo-Oophorectomy is the best way to reduce risk for ovarian cancer.
Breast Cancer Genes Produce Tumor
BRCA1 and BRCA2 genes provide instructions for making a protein that acts as a tumor suppressor and helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way. BRCA1 and BRCA2 proteins are involved in repairing damaged DNA.
Most BRCA1 and BRCA2 gene mutations produce less or nonfunctional proteins and as a result, less of this protein is available to help repair damaged DNA or fix mutations that occur in other genes. As these defects accumulate, they can trigger cells to grow and divide uncontrollably to form a tumor.
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What Do I Ask The Doctor
Visiting the doctor can be stressful. It helps to have questions written down ahead of time. Print these questions and take them with you when you visit the doctor. You may also want to ask a family member or close friend to go with you to take notes.
- What is my risk of developing breast or ovarian cancer?
- Are there warning signs I can look out for?
- Based on my health history and my family history, would you recommend genetic testing to learn more about my risk?
- What are the benefits and risks of genetic testing?
- What are my chances of having a mutated gene that could increase my risk for cancer?
- What would a positive or negative test result mean for me?
- If I have a mutated gene, what are my options for managing my risk?
- If I have a mutated gene, what would it mean for my childrens health?
- If I have a mutated gene, what does that mean for other members of my family?
- If I get geneting testing, who will be able to see my test results?
- Besides mutated genes, what other things increase my risk for breast and ovarian cancer?
- If I decide not to do genetic testing, what types of cancer screening tests are recommended to check for breast and ovarian cancer?
- Is there information I can take with me about genetic testing?
Breast Cancer Subtypes And Inherited Mutations
Cancers diagnosed in people with BRCA mutations often have specific characteristics:
60% to 80% of the breast cancers in women with a BRCA1 mutation are triple negative, as discussed above.
70% to 80% of the breast cancers in women with a BRCA2 mutation are estrogen receptor-positive, progesterone receptor-positive, and HER2-negative.
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Metastatic Breast Cancer Treatment
The PARP inhibitors olaparib and talazoparib are used to treat metastatic breast cancers in some people who have BRCA1/2 gene mutations. These drugs are not used to treat breast cancers in people who dont have BRCA1/2 gene mutations.
Platinum-based chemotherapy drugs are preferred chemotherapy drugs for the treatment of BRCA1/2-related metastatic breast cancers .
Learn more about treatments for metastatic breast cancer.
When Is Genetic Testing Not Recommended
Theres only a very small chance your family carries a BRCA1/2 inherited gene mutation if you or a family member is the only person in your family with breast cancer .
Although you always have the option of being tested, in most cases, genetic testing isnt recommended when theres a very low chance of finding a mutation. Its strongly recommended you speak with a genetic counselor before deciding whether to have genetic testing.
Most breast cancers are not due to a BRCA1/2 or other inherited gene mutation linked to breast cancer .
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Percentage Of Women With Breast Cancer In The Us Who Have A Brca1 Or Brca2 Inherited Gene Mutation
The table below shows the prevalence of BRCA1/2 inherited gene mutations in women diagnosed with breast cancer, by ethnic group .
Percentage of U.S. women with breast cancer who have a BRCA1 or BRCA2 inherited gene mutation, by ethnic group
Adapted from National Cancer Institute materials and Malone et al. .
Estimates Of Breast Cancer Risk
Estimates of breast cancer risk are different for BRCA1 carriers and BRCA2 carriers. By age 70, the chance of developing breast cancer is :
- 50-65 percent for women who have a BRCA1 inherited gene mutation
- 50-55 percent for women who have a BRCA2 inherited gene mutation
- 7 percent for women in the general population
This means by age 70:
- In a group of 100 women with a BRCA1/2 gene mutation, 50-65 will get breast cancer
- In a group of 100 women without a BRCA1/2 gene mutation, about 7 will get breast cancer
These numbers represent average risk. The risk of breast cancer for any one woman with a BRCA1/2 gene mutation may fall outside this range.
Note these risks are not 100 percent. Many women with a BRCA1/2 gene mutation will never have breast cancer . A combination of factors likely causes breast cancer. So, some women with a BRCA1/2 mutation will get breast cancer and many will not.
Learn about genetic testing.
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Risk Factors You Can Change
- Not being physically active. Women who are not physically active have a higher risk of getting breast cancer.
- Being overweight or obese after menopause. Older women who are overweight or obese have a higher risk of getting breast cancer than those at a normal weight.
- Taking hormones. Some forms of hormone replacement therapy taken during menopause can raise risk for breast cancer when taken for more than five years. Certain oral contraceptives also have been found to raise breast cancer risk.
- Reproductive history. Having the first pregnancy after age 30, not breastfeeding, and never having a full-term pregnancy can raise breast cancer risk.
- Drinking alcohol. Studies show that a womans risk for breast cancer increases with the more alcohol she drinks.
Research suggests that other factors such as smoking, being exposed to chemicals that can cause cancer, and changes in other hormones due to night shift working also may increase breast cancer risk.
What Are Brca1 And Brca2
BRCA1 and BRCA2 are genes that produce proteins that help repair damaged DNA. Everyone has two copies of each of these genesone copy inherited from each parent. BRCA1 and BRCA2 are sometimes called tumor suppressor genes because when they have certain changes, called harmful variants , cancer can develop.
People who inherit harmful variants in one of these genes have increased risks of several cancersmost notably breast and ovarian cancer, but also several additional types of cancer. People who have inherited a harmful variant in BRCA1 and BRCA2 also tend to develop cancer at younger ages than people who do not have such a variant.
A harmful variant in BRCA1 or BRCA2 can be inherited from either parent. Each child of a parent who carries any mutation in one of these genes has a 50% chance of inheriting the mutation. Inherited mutationsalso called germline mutations or variantsare present from birth in all cells in the body.
Even if someone has inherited a harmful variant in BRCA1 or BRCA2 from one parent, they would have inherited a normal copy of that gene from the other parent . But the normal copy can be lost or change in some cells in the body during that persons lifetime. Such a change is called a somatic alteration. Cells that dont have any functioning BRCA1 or BRCA2 proteins can grow out of control and become cancer.
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What Is A Gene
Each persons DNA contains the code used to build the human body and keep it functioning. Genes are the small sections of DNA that code for individual traits. For example, someone with naturally red hair has a gene that causes his or her hair to be red.
All inherited traits are passed down through genes. Each person has two copies of every gene: one gene from each parent. Since each parent passes down exactly half of their genes to each child, any of the parents genetic traits has a 50% chance of being passed on to their offspring.
Having Dense Breast Tissue
Breasts are made up of fatty tissue, fibrous tissue, and glandular tissue. Breasts appear denser on a mammogram when they have more glandular and fibrous tissue and less fatty tissue. Women with dense breasts on mammogram have a higher risk of breast cancer than women with average breast density. Unfortunately, dense breast tissue can also make it harder to see cancers on mammograms.
A number of factors can affect breast density, such as age, menopausal status, the use of certain drugs , pregnancy, and genetics.
To learn more, see our information on breast density and mammograms.
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