Benefits Of Genetic Testing
The knowledge of a patient’s genetic susceptibility for breast cancer can orientate appropriately clinical management. This information can provide the following options.
How Common Is Breast Cancer By Age
Your risk for breast cancer increases as you age. About 80% of women diagnosed with breast cancer each year are ages 45 or older, and about 43% are ages 65 or above. Consider this: In women ages 40 to 50, there is a one in 69 risk of developing breast cancer. From ages 50 to 60, that risk increases to one in 43.
Having Certain Benign Breast Conditions
Women diagnosed with certain types of 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 different 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
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
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.
Lobular carcinoma in situ
For more on these conditions, see Non-cancerous Breast Conditions.
How Common Are Cancers Caused By Inherited Faulty Genes
Cancers due to inherited faulty genes are much less common than cancers due to gene changes caused by ageing or other factors. Most cancers develop because of a combination of chance and our environment, not because we have inherited a specific cancer gene fault.
Genetic specialists estimate that between 5 and 10 in every 100 cancers diagnosed are linked to an inherited faulty gene.
Different gene faults increase the risk of different types of cancer. Some faults increase the risk by a small amount and some increase the risk much more.
What Is Considered High Risk For Breast Cancer
High risk for breast cancer is defined as a greater than or equal to 20% lifetime risk, or in other words, a one in five chance of developing breast cancer over a lifetime. We all know someone a coworker, family member such as a mother, sister, daughter or friend that has been diagnosed with this disease.
What Is The First Sign Of Breast Cancer
Breast cancer is the condition in which the cells of the breast continuously divide resulting in the formation of lump in the breast. The formation of lump is generally regarded as the first sign of tumor. Apart for the lump, the other symptoms include blood from the nipples, and change in shape of the breast. The patient may also experience discharge from nipples, and swollen lymph nodes.
Genetic Links To Cancer
The most common genetic cause of breast cancer is a mutation in the BRCA1 and BRCA2 genes, which are responsible for repairing DNA damage in cells. If these genes are mutated and not functioning properly, the body cannot repair damage to DNA in cells. Cells then become cancerous and multiply without control.
Genetic mutations can lead to abnormal cell growth, which can result in breast cancer. People with one or more genetic mutations are at increased risk for developing cancer, including breast and ovarian cancers.
While BRCA mutations are most commonly associated with breast cancer, there are many other types of genetic mutations linked to breast cancer, including:
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Low Penetrant Breast Cancer Loci
A number of common breast cancer susceptibility loci have been associated with a slightly increased or decreased risk of breast cancer. These can follow the polygenic model, or can act synergistically with environmental factors or lifestyle, to account for a small fraction of familial breast cancer cases.
Most of these low-susceptibility loci have been highlighted through genome wide association studies and initially included a number of loci. In the final breast cancer assessment risk, six SNPs showed statistically significant association: MAP3K1, FGFR2, LSP1, TNRC19, and H19 .
Moreover, a particular SNP in CASP8 was identified to confer a slightly increased susceptibility in a candidate-gene study .
Although the actual contribution of low power, common susceptibility loci in hereditary breast cancer is debatable, the identification of such alleles can explain a subset of breast cancer cases.
Is Breast Cancer Hereditary From Grandparents
If one or more of these relatives has had breast or ovarian cancer, your own risk is significantly increased. If a grandmother, aunt or cousin has been diagnosed with the disease, however, your personal risk is usually not significantly changed, unless many of these secondary relatives have had the disease.
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What Are The Odds Of Getting Breast Cancer If Your Mother Had It
And women who inherit certain genetic mutations, such as those on the BRCA1 and BRCA2 genes, may have a lifetime risk of developing breast and/or ovarian cancer of anywhere from 50% to 85%. If you inherit that mutation from your mother, there is a very strong chance that you will go on to develop breast cancer, too.
Most Breast Cancers Are Not Inherited
Breast cancer is the most common cancer in women in the UK.
Most breast cancers are not inherited and only a small number of people have an increased risk of developing breast cancer because they have a significant family history.
If you have a relative with breast cancer, it doesnt necessarily mean youre more likely to develop it yourself.
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Busting The Myths About Brca
Navigating the world of genetic testing can be very confusing and scary at times. That’s why we’re addressing some of the common myths surrounding BRCA testing.
Myth 1: If I have a BRCA mutation, I will definitely get cancer!
Truth: Finding out you have a BRCA mutation is a life-changing thing, but it is not a death sentence! The precise risks vary depending on the particular mutation, and whether you are male or female. They are listed here but its important to remember these risks are for your whole lifetime.
Finding out you have a BRCA mutation can mean you have different options for treatment if you do have cancer . It also means you can take action early to prevent getting some of the cancers linked to the mutations. For details of preventative options click here.
Myth 2: It doesnt matter that I have a BRCA mutation, I can just eat healthily.
Truth: It goes without saying that healthy eating, exercise and generally looking after our bodies is a good idea, however a BRCA mutation effectively means a portion of your DNA is broken. BRCA1 and BRCA2 are tumour suppressor genes, whose job is to stop cells developing into cancer when they are broken, one of your bodys lines of defence no longer works. There is currently no way of fixing that and there is no lifestyle choice that can switch on BRCA1 or BRCA2 to work again. There are some lifestyle options that have been shown to have some impact on the risk but that risk remains higher than the general population.
How Common Are Hereditary Cancers
Hereditary cancers due to mutations in a single gene are rare. It is estimated that only about 2 3% of all cancers are known to be linked to a cancer-causing mutation in a high-risk gene. If you have a relative who has or has had cancer, you may be concerned that you are at a greater risk of developing it yourself, however, this is not the case for most people. Cancer is most common in older people and affects 1 in 2 people in the UK at some point in their lives. Therefore, most families will have at least one person who has or has had cancer. The more relatives who have had the same type of cancer or related cancers and the younger their age at diagnosis, the more likely it is that the cancer is hereditary.
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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.
Why Do Other People In My Family Need This Information
Genetic information is different from most medical information an individual receives, because it is not only relevant to the individual but also to their family members. Genetic information can provide an explanation as to why someone has a particular health problem, but it also can predict future poor health or the risk of having a child affected with a particular genetic problem. If someone is aware that they have an increased risk of developing cancer, they have the chance to make choices about genetic testing, cancer surveillance or risk-reducing surgery. They may also decide to make changes to their lifestyle to help decrease their risk of developing cancer. Knowing about the risk gives your relatives a chance to take action to reduce their risk of getting cancer or help ensure that cancer is detected at an early stage so it may be treated more effectively.
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Breast Cancer Risk And Breast Awareness
You may feel reassured to know that only a small number of breast cancers are due to having a significant family history.
However, breast cancer is still the most common cancer in women in the UK.
One in seven women in the UK will develop breast cancer in their lifetime.
Its important to be breast aware. This means:
- Checking your breasts regularly, so you know what looks and feels normal for you
- Contacting your GP if you notice a breast change thats new or unusual
How Many Women Get Breast Cancer Each Year
Each year, over 250,000 women in the United States are diagnosed with breast cancer and about about 20,000 are diagnosed with ovarian cancer. About 3% of breast cancers and 10% of ovarian cancers result from inherited mutations in the BRCA1 and BRCA2 genes that are passed on in families. Inherited mutations in other genes can also cause breast and ovarian cancer, but BRCA1 and BRCA2 are the genes most commonly affected. Although breast cancer is much more common in women, men with BRCA1 or BRCA2 mutations are more likely to get breast cancer than other men. BRCA mutations also increase the likelihood of getting pancreatic cancer and, in men, high grade prostate cancer. Knowing your family health history can help you find out if you could be more likely to develop breast, ovarian, and other cancers. If so, you can take steps to prevent cancer or to detect it earlier when it may be more treatable.
What Is The Earliest Age You Can Get Breast Cancer
Are women under 40 at risk for breast cancer? Younger women generally do not consider themselves to be at risk for breast cancer. However, breast cancer can strike at any age: 5% of breast cancer cases occur in women under 40 years of age. All women should be aware of their personal risk factors for breast cancer.
Questions To Ask The Health Care Team
If you are concerned about your risk of cancer, talk with your health care team. It can be helpful to bring someone along to your appointments to take notes. Consider asking your health care team the following questions:
What is my risk of developing breast cancer and ovarian cancer?
What is my risk for other types of cancer?
What can I do to reduce my risk of cancer?
What are my options for cancer screening?
If you are concerned about your family history and think your family may have HBOC, consider asking the following questions:
Does my family history increase my risk of breast cancer, ovarian cancer, or other types of cancer?
Should I meet with a genetic counselor?
Should I consider genetic testing?
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Can Breast Cancer Be Identified
With new genetic testing techniques, breast cancer genes can be identified even before the disease develops. However, such testing is imperfect in terms of determining your risk. While a breast cancer gene increases the chance youll develop the diseasewhether you have a family history of breast cancer or not not having such a gene does not mean
What Is The Risk Of Brca Mutation
Mutation in BRCA gene is autosomal dominant which indicates that only one copy of the faulty gene is sufficient to increase the risk of developing breast and ovarian cancer. In male, mutation in BRCA may cause breast cancer but the risk is high for developing prostate cancer. Almost 1-2% of the patient of prostate cancer is found to have BRCA mutation. As the genetic mutation is autosomal dominant thus the chances of transferring it to the next generation is 50:50. The mutated BRCA gene does not skip generation. Once the mutation is found in any of the family members, the other closely related members such as brother, sister or children should be genetically screened to diagnose the presence of BRCA gene mutation in them. In male, the chances of breast cancer due to mutation in BRCA gene are about 2-5%. If a patient suffering from breast cancer is found to have a negative BRCA test, the chances are that the cancer has been developed due to mutation in a gene other than BRCA. It is to be noted that the genetic mutation of BRCA itself does not cause cancer rather it increases the chances of developing cancer. Thus, the hereditary transfer is not of cancer rather it is increased risk which is transferred.
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Who Is At Risk Of Having The Faulty Brca Gene In My Family
If you are a BRCA mutation carrier, your close relatives have a 50/50 risk of having the faulty BRCA gene. The faulty gene would have been present in your family for many generations it is not new within your family. It is only that we are now able to identify who actually carries the faulty gene. You would have inherited the BRCA gene from either your mother or your father. This faulty BRCA gene causes the increased risk of developing cancer.
Your brothers and sisters each have a 50/50 risk of having the faulty BRCA gene. Each person would need to have genetic testing to determine if they have the faulty BRCA gene or not. You cannot predict if someone has the gene on the basis of their brothers or sisters genetic test results or if people look alike in the family.
Your children each have a 50/50 risk of having the faulty BRCA gene. We do not offer predictive testing to children because screening or risk-reducing treatment is not generally needed or available for children. Once they are over eighteen, each of your children could choose to have genetic testing to find out if they have inherited the faulty BRCA gene or not.
The faulty BRCA gene would either have come down through your mothers or your fathers family. So if you inherited the faulty BRCA gene from your mother, for example, then only your aunts, uncles and cousins on your mothers side of the family are at risk of having the faulty BRCA gene.
When Should I Share This Information
There is probably no right time to tell people. Sometimes families are aware of the testing process and are waiting to hear the results.
Other people choose to wait until they know their results before they mention it to anyone else. There will be a variety of factors that affect your decision to share this news, for example you may need time to get used to the information first, or someone may have been bereaved recently and you may feel it is better to wait a bit. Sometimes people are too young to be told everything or maybe you are waiting until you have the chance to see someone in person rather than telling them over the telephone or by mail.
Having a BRCA gene mutation does not increase the risk of cancer in childhood so there is no advantage in doing genetic testing of BRCA mutations in children. Once a person is over 18 years old they can decide to proceed with genetic testing although in the majority of cases any women shown to carry a BRCA mutation will not need to even consider breast screening or risk reducing surgery until they are over 25 years old. Anyone in the family who has been affected with breast, prostate or ovarian cancer should be told as soon as possible because their doctors may need this information to make appropriate treatment decisions.
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