What Can Be Done To Decrease My Risk For Breast Cancer If I Test Positive For A Gene Mutation
There are several options available for breast cancer risk reduction in high-risk women. Chemoprevention involves taking a medication to lower the risk for cancer. Tamoxifen is a medication that has been approved to lower breast cancer risk in certain high-risk women and appears to lower risk by up to 50%. Other medications are being researched. Surgical removal of healthy breasts and/or ovaries, known as prophylactic surgery, can effectively lower the risk for breast cancer in high-risk women as much as 95%. In addition to risk reduction options, increased surveillance tools such as Magnetic Resonance Imaging and ultrasound can be used in conjunction with mammography to assist in detecting breast cancer at its earliest and most treatable stage. These tools and others, such as ductal lavage, are currently being studied to see if they improve outcome for high-risk women who choose surveillance. None of these options eliminate the risk for breast cancer. In addition, each option has its own benefits and risks. It is important to choose a healthcare team that is trained in managing high-risk women and discuss each option thoroughly with them.
What Are The Benefits And Limitations Of Genetic Testing
The benefits of genetic testing can vary depending on individual circumstances. Knowing your genetic status can be very empowering. Should you test positive for a known mutation, genetic testing can allow you to choose medical options to lower your risk for cancer or detect the disease at an early stage. It may also qualify you to participate in research studies that are looking for better ways to detect cancer early or to prevent cancer. However, not everyone views the knowledge of cancer risk as a benefit. The limitations of the test are complex. Genetic testing impacts both the individual undergoing testing and other members of the family. Some people may find the information and uncertainty associated with risk overwhelming, especially at first. And since the test itself can only identify the two most common genes involved in hereditary breast cancer , under certain circumstances, a negative test may not rule out hereditary breast cancer in your family. Because not every person who carries a mutation will get cancer, it is very important to remember that genetic testing cannot detect breast cancer nor can it tell you with certainty if you will get breast cancer at some point in your life.
What Causes Breast Cancer
Most breast cancers are caused by a combination of many different things
While the exact causes are still unknown, research has shown that some things can increase or decrease the likelihood of getting breast cancer. These are called ‘risk factors’. Being a woman and getting older are the biggest risk factors for developing breast cancer.
A small number of people have an increased risk of developing breast cancer because they have a significant family history. This may be because an altered gene that increases the risk of breast cancer runs in the family.
If you are worried about your family history you may be able to have a family history risk assessment.
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How Do You Know If You Too Have A Gene For Hereditary Breast And Ovarian Cancer
- The BRCA mutations are the most common cause of inheriting an increased risk for breast and ovarian cancer but there are other genes too.
- Both men and women can have these genes.
- Men can pass them to their daughters or they can suffer from one of the cancers like breast, prostate or pancreatic cancer that the gene also puts us at increased risk for.
Everyone needs to think about their risk of having one of these cancer genes this week because previving cancer is a win!
Who Is A Good Candidate For Genetic Testing For Breast Cancer
Generally speaking, anyone with a strong family history of cancer meaning multiple relatives, on either side of your family, with any kind of cancer may be a good candidate for genetic testing. If anyone in your family has had breast cancer at age 45 or younger, or any men in your family have had breast cancer, those are also important things to consider, says Dr. Weiss. . You can bring up an extensive family history of cancer with an ob-gyn or even general practitioner to see if they recommend referring you to a genetic specialist.
Surprisingly, newly-diagnosed breast cancer patients may also be good candidates for testing. That information will sometimes help guide our treatment choices, says Dr. Newman.
There are also certain ethnic and racial groups that benefit greatly from genetic testing, says Dr. Newman, whose research specializes in this topic. Ashkenazi Jewish women are at an especially high risk of having a BRCA mutation, and are encouraged by the US Preventative Services Task Force to get tested.
Dr. Newman also suggests Black women with family histories consider getting tested, as they are disproportionately affected by breast cancer the disease is significantly more deadly for Black women as compared to white women. While some of the disparity is due to systemic racism in the healthcare system, Dr. Newman stresses that not all of the difference can be accounted for as a result of systemic and socioeconomic factors.
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Hereditary Leiomyomatosis And Renal Carcinoma
HLRCC is caused by faults in the FH gene. People with HLRCC have benign skin tumours , fibroids in the womb , and may have kidney cancer. Papillary renal cancer is the most common kidney cancer type in HLRCC, but other types, such as tubulo papillary renal cell cancer and collecting duct renal cell cancer, can develop. It is a very rare condition and the number of people with HLRCC is not known.
Is Breast Cancer A Genetic Disease
Yes, some breast cancers occur as a result of inheriting genes that contain certain mutations. But, hereditary breast cancer accounts for only 5 to 10% of all breast cancer diagnoses. Among these diagnoses, a family may have one of these inherited gene mutations or genetic conditions that increase their cancer risk:
- BRCA1 or BRCA2. Mutations of these genes are related to an increased risk for breast and ovarian cancer
- Li-Fraumeni Syndrome is caused by mutations in the TP53 gene
- Cowden Syndrome caused by mutations in the PTEN gene
- ATM, CHEK2, PALB2. Mutations in these genes are associated with a moderately increased risk for breast cancer
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What Is Genetic Testing For Breast Cancer
Many people think that these tests look for specific genes that are cancer-causing, but this isnt exactly right, explains Gil Weiss, MD, an ob-gyn, partner at Association for Womens Healthcare and an assistant professor of clinical medicine at Northwestern Memorial Hospital. The genes we talk about when it comes to genetic testing for breast cancercommonly known as BRCA-1 and BRCA-2 are normal genes we all have, which act as tumor suppressors. They become activated only when a mutation is present, meaning they dont work properly.
When they get a mutation and dont function normally, thats when theres a problem, he says. The tests look for those mutations, which, again, are not equivalent to a cancer diagnosis. Even if you have the mutation, it doesnt mean you will have cancer. It just means youre at an increased risk.
For context, according to the National Cancer Institute, approximately 12 percent of women will develop breast cancer over the course of their lives, but for women who have one of these mutations, that number jumps to about 70 percent. There are home tests available, but experts recommend you see a certified geneticist if youre considering this testing, as theyll be able to help you figure out what your increased risk is even more precisely.
How Common Is Hboc
Most breast and ovarian cancers are sporadic, meaning they occur by chance with no known cause. Most women who have breast or ovarian cancer do not have HBOC.
Currently, it is estimated that less than 1% of the general population has a mutation in the BRCA1 or BRCA2 genes, and up to 10% of women and 20% of men diagnosed with breast cancer have a mutation in 1 of these genes. About 10% to 30% of women younger than 60 diagnosed with triple-negative breast cancer, which are cancers that do not have receptors for estrogen, progesterone, and HER2, have a BRCA1 or BRCA2 gene mutation, and others will have mutations in other breast cancer risk genes. Therefore, doctors recommend that women with triple-negative breast cancer receive genetic counseling and genetic testing .
HBOC is most common in families who have had multiple cases of breast cancer and/or ovarian cancer on the same side of the family. In families with 4 or more cases of breast cancer diagnosed before age 60, the chance of HBOC is about 80%. To compare, the chance of finding HBOC when only 1 woman has had breast cancer diagnosed before age 50 is estimated to be 10% or less.
Families with Ashkenazi Jewish ancestry have an increased chance of having HBOC. There are 3 specific gene mutations, known as founder mutations, that are common in these families:
185delAG in BRCA1
5382insC in BRCA1
6174delT in BRCA2
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Act Like A Detective About Your Family History Of Cancer
Relatives dont like to share medical information and the older they are, the less likely they are to talk. Or as Ross puts it, Having cancer conversations with family brings out the crazies in all of us. Just knowing that helps you tolerate the crazies. Start by writing down medical information about every close family member, beginning with yourself. Then, at family gatherings, collect information in a casual way, by asking relatives for stories about their life rather than grilling them. Then go home and record the information .
Predictive Genetic Tests For Cancer Risk Genes
Cancer is not usually inherited, but some types mainly breast, ovarian, colorectal and prostate cancer can be strongly influenced by genes and can run in families.
We all carry certain genes that are normally protective against cancer. These genes correct any DNA damage that naturally happens when cells divide.
Inheriting faulty versions or “variants” of these genes significantly raises your risk of developing cancer, because the altered genes cannot repair the damaged cells, which can build up and form a tumour.
BRCA1 and BRCA2 are examples of genes that raise your cancer risk if they become altered. Having a variant BRCA gene greatly increases a woman’s chance of developing breast cancer and ovarian cancer. They also increase a man’s chance of developing male breast cancer and prostate cancer.
BRCA genes are not the only cancer risk genes. Researchers recently identified more than 100 new gene variants associated with an increased risk of breast, prostate and ovarian cancer. Individually, these new gene variants only slightly increase the risk of cancer, but a combination could mean a high risk overall.
If you or your partner have a high-risk cancer gene, such as an altered version of BRCA1, it can be passed on to any children you have.
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What Are The Risk Factors For Breast Cancer
Risk factors in a womans life often affect whether or not she will get breast cancer in her lifetime. While some women at higher risk dont get the disease, and some women at lower risk do, it is important to start screening at age 40 to determine the risk level. Risk factors you cannot change include:
- Aspects of reproductive history such as the number of menstrual cycles in your lifetime
- Personal or family history of breast or ovarian cancer
- Previous breast biopsies with atypia or high-risk lesions
- Previous treatment using radiation therapy to the chest before the age of 30
Women who are Ashkenazi Jewish are also considered at higher risk of breast cancer due to the BRCA 1 and 2 gene.
Alternatively, there are risk factors that you have control over. Risk factors that you can modify include:
- Not being physically active
- A diet lacking in fruits and vegetables
Cancer Risks For Womenwith Brca1/brca2 Mutations
Women who inherit a mutation in the BRCA1 or BRCA2 gene have a much higher risk of developing breast and ovarian cancer. But, important steps can be taken to help lower the risk for cancer in these women. Its important to know that not everyone who inherits a BRCA1 or BRCA2 mutation will get breast or ovarian cancer, and that not all inherited forms of breast or ovarian cancer are due to mutations in BRCA1 and BRCA2.
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Having Certain Benign Breast Conditions
Women diagnosed with certain benign breast conditions may have a higher risk of breast cancer. Some of these conditions are more closely linked to breast cancer risk than others. Doctors often divide benign breast conditions into 3 groups, depending on how they affect this risk.
Non-proliferative lesions: These conditions dont seem to affect breast cancer risk, or if they do, the increase in risk is very small. They include:
- Fibrosis and/or simple cysts
- Mild hyperplasia
- Epithelial-related calcifications
- Other tumors
Mastitis is not a tumor and does not increase the risk of breast cancer.
Proliferative lesions without atypia : In these conditions theres excessive growth of cells in the ducts or lobules of the breast, but the cells don’t look very abnormal. These conditions seem to raise a womans risk of breast cancer slightly. They include:
- Usual ductal hyperplasia
- Several papillomas
- Radial scar
Proliferative lesions with atypia: In these conditions, the cells in the ducts or lobules of the breast tissue grow excessively, and some of them no longer look normal. These types of lesions include:
Breast cancer risk is about 4 to 5 times higher than normal in women with these changes. If a woman also has a family history of breast cancer and either hyperplasia or atypical hyperplasia, she has an even higher risk of breast cancer.
For more information, see Non-cancerous Breast Conditions.
Lobular carcinoma in situ
There Are Certain Clues That Tell You Whether Cancer Is Hereditary
If your dad was a heavy smoker who died of lung cancer, its a good bet that the cancer he died from was environmentally caused rather than caused by a large inherited component, says Ross. But watch for these signs: Several close family members were diagnosed with cancer before age 50 multiple family members have the same type of cancer there are many cases of a rare cancer in the family relatives have gotten cancer in both pairs of organs .
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Worried About Your Breast Cancer Risk
Roswell Park has been helping women who are at high risk for breast cancer understand and control their risk since 1995, with the longest-running breast cancer risk assessment and prevention program in our region. When it comes to taking charge of your breast health, you need a team of specialists from certified genetics counselors to the most experienced diagnostic experts and pathologists who are focused solely on breast cancer. That is what Roswell offers. We also offer supportive and educational resources through our Womens Resource Center to make sure all your questions are answered. And if something suspicious is found, you are already where you need to be for personalized medicine options not available elsewhere in our region. Complete our online Risk Assessment form as a first step toward understanding your personal risk level.
How Do Hereditary Gene Mutations Raise Cancer Risk
Many people wonder how exactly an abnormal gene or combinations of genes could lead to breast cancer, and a brief discussion of the biology is helpful in understanding many of the questions, such as why not everyone who has these mutations develops cancer.
Our DNA is a blueprint or code that is used to manufacture proteins. When the map or code is wrong , it gives the wrong directions for synthesizing a protein. The abnormal protein is then unable to perform its usual job. Not all gene mutations raise the risk of cancer, and in fact, most do not. Mutations in genes responsible for the growth and division of cells, or “driver mutations” are what drive the growth of cancers. There are two major types of genes that, when mutated, can lead to uncontrolled growth known as cancer: oncogenes and tumor suppressor genes.
Several of the genes associated with a higher breast cancer risk are tumor suppressor genes. These genes code for proteins that function to repair damage to DNA in cells , serve to eliminate cells that can’t be repaired, or regulate growth in other ways. The genes BRCA1 and BRCA2 are tumor suppressor genes.
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Knowing That You Have A Genetic Risk Of Cancer Allows You To Take Steps To Avoid Getting Cancer Called Previving The Cancer
Previving cancer is even better than Surviving cancer.
- I survived breast cancer but I previved ovarian cancer because I learned that I carried a cancer gene. My grandmother died from ovarian cancer so she did not previve or survive it. I never met her.
- Angelina Jolie previved breast and ovarian cancer because she knew she had a BRCA gene mutation.
National Previvor Day is September 30th this year. Previving is the goal for those who have a gene mutation for cancer.