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.
Who Should Be Tested For Hboc
Most breast and ovarian cancers occur by chance with no known cause, so testing for BRCA1 or BRCA2 gene mutations may not be beneficial for the average person. Genetic testing is recommended primarily for people who have a personal and/or family history that suggests HBOC. However, women younger than 60 with triple-negative breast cancer , are at risk of having a BRCA mutation, regardless of family history.
For women with a previous diagnosis of breast cancer or ovarian cancer and/or a family history of breast or ovarian cancer, the National Comprehensive Cancer Network provides recommendations for when genetic counseling and testing may be needed. These recommendations are based on your familys history of cancer and how closely related you are to the person who developed cancer. Here are some important definitions to know:
“First-degree relatives” include parents, siblings, and children.
“Second-degree relatives” include aunts/uncles, grandparents, grandchildren, and nieces/nephews.
“Third-degree relatives” include first cousins, great-grandparents, or great-grandchildren.
Genetic testing should be considered if a person or family meets 1 or more of the criteria listed below:
What Are The Benefits Of Genetic Testing For Brca1 And Brca2 Variants
There can be benefits to genetic testing, regardless of whether a person receives a positive or a negative result.
The potential benefits of a true negative result include a sense of relief regarding the future risk of cancer, learning that one’s children are not at risk of inheriting the family’s cancer susceptibility, and the possibility that special check-ups, tests, or risk-reducing surgeries may not be needed.
A positive test result may allow people to make informed decisions about their future health care, including taking steps to reduce their cancer risk.
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How Common Are Breast Cancer Gene Mutations
Breast cancer gene mutations arent common in the general population, Dr. Eng says, but they are common in people who have breast cancer. About 10% to 15% of people with breast cancer have one of the breast cancer gene mutations.
You can inherit these gene mutations from either of your biological parents, and the cancers theyre linked to can affect both men and women so consider all your relatives when thinking about your family history.
Evaluation Of Suspected Hereditary Predisposition To Breast Cancer
Individuals with a family and personal history suspicious for a familial syndrome should be referred to a genetic counselor for a comprehensive evaluation. Testing for mutations in cancer-associated genes is individually based, and requires a high index of suspicion for a particular gene based on the clinical situation. In general, when a family history is suggestive, it is best to test the individual with a cancer diagnosis, as this increases the probability of a positive test result. Standard clinical BRCA1 and BRCA2 testing has been carried out using PCR amplification and Sanger sequencing. For the Ashkenazi Jewish population, testing can be initially targeted to the three major founder mutations. In 2007, testing for large rearrangements was added for secondary analysis after research studies published that 6%18% of individuals who are BRCA mutation negative by sequencing can be explained by large insertions and deletions in the BRCA1 and BRCA2 genes using multiplex ligation-dependent probe amplification technology . If a mutation is identified, targeted testing can be done for other members of the family to assess risk. Possible outcomes of genetic testing are a true positive, a true negative , uninformative , or a variant of unknown significance . By definition, a VUS is a detected genetic change without a good description of any correlating clinical risk.
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Inheriting Certain Gene Changes
About 5% to 10% of breast cancer cases are thought to be hereditary, meaning that they result directly from gene changes passed on from a parent.
BRCA1 and BRCA2: The most common cause of hereditary breast cancer is an inherited mutation in the BRCA1 or BRCA2 gene. In normal cells, these genes help make proteins that repair damaged DNA. Mutated versions of these genes can lead to abnormal cell growth, which can lead to cancer.
- If you have inherited a mutated copy of either gene from a parent, you have a higher risk of breast cancer.
- On average, a woman with a BRCA1 or BRCA2 gene mutation has up to a 7 in 10 chance of getting breast cancer by age 80. This risk is also affected by how many other family members have had breast cancer.
- Women with one of these mutations are more likely to be diagnosed with breast cancer at a younger age, as well as to have cancer in both breasts.
- Women with one of these gene changes also have a higher risk of developing ovarian cancer and some other cancers.
- In the United States, BRCA mutations are more common in Jewish people of Ashkenazi origin than in other racial and ethnic groups, but anyone can have them.
Other genes: Other gene mutations can also lead to inherited breast cancers. These gene mutations are much less common, and most of them do not increase the risk of breast cancer as much as the BRCA genes.
Inherited mutations in several other genes have also been linked to breast cancer, but these account for only a small number of cases.
Finding The Missing Heritability
The breast cancer genes identified thus far explain only about 30% of the heritability, which is the proportion of the phenotypic variance that can be attributed to genetic variation. There are several possible sources for the missing genes, and this is a subject of intense argument and ongoing research.
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How Is Hboc Inherited
Normally, each person has 2 copies of each gene in their bodys cells: 1 copy is inherited from a persons mother and 1 copy is inherited from a persons father. HBOC follows an autosomal dominant inheritance pattern. This means that a mutation needs to happen in only 1 copy of the gene for the person to have an increased risk of getting that disease. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A sibling or parent of a person who has a mutation also has a 50% chance of having inherited the same mutation. However, if the parents test negative for the mutation , the risk to the siblings significantly decreases but their risk may still be higher than an average risk.
What Your Breast Cancer Genetic Tests Results Mean
Having a positive genetic test result doesnt mean youll get cancer. It means you have a higher risk of getting breast cancer than people without the mutation.
- Women without breast cancer gene mutations have a 12% lifetime risk of breast cancer.
- Women with a BRCA mutation have up to an 80% lifetime risk of breast cancer.
- Women with the PTEN mutation have an 85% lifetime risk.
- Men with the BRCA2 mutation have about an 8% lifetime risk, 80 times greater than males without the mutation.
Even if you get tested and get a negative result, dont skip mammograms or other health screenings, and continue to follow the American Cancer Societys guidelines.
Most cases of breast cancer arent hereditary, says Dr. Eng. A negative result means you dont have the known gene mutations for breast cancer. But you can still get breast cancer.
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.
Genetic Mutations Linked To A Higher Risk Of Breast Cancer
Scientists studying cancer genetics continue to find and evaluate inherited mutations that may increase a familys cancer susceptibility.
The inherited genes most commonly tested because of their association with an increased risk of breast cancer include:
BRCA1: Between 55 percent to 72 percent of women who inherit the BRCA1 genetic mutation will develop breast cancer during their lifetime, according to the NCI. These same women have a 39 percent to 44 percent chance of developing ovarian cancer, compared to approximately 1.2 percent of women in the general population.
BRCA2: Between 45 percent to 69 percent of women who inherit the BRCA2 genetic mutation will develop breast cancer in their lifetime. Their risk of developing ovarian cancer ranges from 11 percent to 17 percent.
Women with BRCA1 and/or BRCA2 mutations are also at increased risk for pancreatic cancer.
CHEK2: About 1 percent of people carry this mutation. Its more common than the BRCA mutations, but the risk of developing a cancer associated with it is lower. A woman with a mutation in the CHEK2 gene has a 23 to 48 percent lifetime risk of developing a first breast cancer and a 29 percent chance of developing a second breast cancer within 10 years of the first.
Having this mutation is also associated with a higher risk of colon cancer.
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Who Should Consider Genetic Counseling And Testing For Brca1 And Brca2 Variants
Tests are available to see if someone has inherited a harmful variant in BRCA1 and BRCA2. However, testing is not currently recommended for the general public. Instead, expert groups recommend that testing be focused on those who have a higher likelihood of carrying a harmful BRCA1 or BRCA2 variant, such as those who have a family history of certain cancers. Testing can be appropriate for both people without cancer as well as people who have been diagnosed with cancer. If someone knows they have a mutation in one of these genes, they can take steps to reduce their risk or detect cancer early. And if they have cancer, the information about their mutation may be important for selecting treatment.
Before testing is done, a person will usually have a risk assessment, in which they meet with a genetic counselor or other health care provider to review factors such as which of their relatives had cancer, what cancers they had, and at what ages they were diagnosed. If this assessment suggests that someone has an increased risk of carrying a harmful BRCA1 or BRCA2 gene variant, their genetic counselor can discuss the benefits and harms of testing with them and order the appropriate genetic test, if the individual decides to have genetic testing .
Familial Atypical Multiple Mole Melanoma Syndrome
FAMMM is a syndrome that increases your risk of developing melanoma skin cancer. People with FAMMM tend to have large numbers of moles or moles that are unusual. They also have at least one close relative with a diagnosis of melanoma. A close relative is a parent, brother or sister, or child.
Scientists think that FAMMM is linked to a fault in the CDKN2A gene. It may also increase your risk of developing pancreatic cancer. But doctors need more research to find out for sure.
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Insurance Will Cover Genetic Testing If Theres A Strong Family History Of Cancer
But get it done professionally, so a genetic counselor can walk you through the interpretation, the risks, and management. Dont send away for a home kit! Theyre not reliable and you may not be able to sift through the results all of us have genetic mutations, about 800 of them, according to Ross.
Inherited Genes And Cancer Types
Most cancers are not linked to inherited faulty genes.
If you have an inherited faulty gene it increases your risk of developing certain types of cancer.
Some faulty genes increase the risk of more than one cancer type.
Faulty BRCA1 and BRCA2 genes increase the risk of developing breast, ovarian, pancreatic and prostate cancer.
Most cancers are not linked to inherited faulty genes . Only around 5 in every 100 cancers diagnosed are linked to an inherited faulty gene.
This information is aboutsome of the inherited faulty genes that can increase your risk of developing cancer. Faulty genes are also called gene mutations.
Its important to remember that these conditions are rare. Most cancers develop because of a combination of chance and our environment, not because we have inherited a cancer gene fault. Talk to your GP if you have a strong family history of cancer. Or if you think you could have inherited any of these faulty genes.
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Some Facts About Breast Cancer
- Breast cancer is one of the most common cancers in the world.
- In the UK about 1 in 8 women develop breast cancer at some stage of their lives.
- The biggest risk factor for developing breast cancer is increasing age. Most cases develop in women over the age of 50.
- Of women who do develop breast cancer, most do not have a strong family history of the disease. However, some women do come from families where breast cancer occurs more often than usual .
- If breast cancer is detected in an early stage, there is a good chance of a cure. X-ray testing of the breast can detect breast cancer at an early stage.
Talking About Family Health History With Your Health Care Provider
Your family history of breast cancer and other health conditions is important to discuss with your health care provider. This information helps them understand your risk of breast cancer.
Susan G. Komen®s My Family Health History Tool
My Family Health History tool is a web-based tool that makes it easy for you to record and organize your family health history. It can help you gather information thats useful as you talk with your doctor or genetic counselor.
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Do Breast Cancer Genes Guarantee Cancer
There are two kinds of breast cancer genes that are called BRCA1 and BRCA2. Everybody has these genes but they only show the chances of getting cancer if they bear any mutations. Originally, these genes were recognized because they suppress tumors. Without mutations and operating normally, they ensure that cells keep growing at the correct rate.
Who Is At Risk For Inherited Breast Cancer
Your risk may be increased if your relative developed breast cancer at a young age or if the relative is very closely related, like a mother, sister or daughter, Ninan says. Having a family history of early onset breast cancer in close relatives may be a reason to look into genetic testing.
A comprehensive breast center has experienced breast specialists who can help clarify what course of action might be best for you, she says.
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Breast Cancer In Families
If you or one of your close relatives has been diagnosed with breast cancer, you may have concerns about whether breast cancer runs in the family .
A small number of people have an increased risk of breast cancer because of their family history. However, most breast cancers are not inherited and do not increase the lifetime risk for other family members.
Breast cancer is the most common cancer in the UK, so even if you have a relative with breast cancer, it doesnt necessarily mean youre more likely to develop it yourself.
Tests For Brca And Other Gene Mutations
A genetic test can tell you if you have any mutations in genes that are related to an increased risk of breast cancer. Its important to know that genetic testing is most helpful when you have a strong family history of either breast or ovarian cancer or a personal history of breast cancer.
If youd like to be tested, contact your doctor or your hospitals education office. Ask for a recommendation for a genetic counselor. Make an appointment and discuss the risks of undergoing genetic testing.
Your genes may affect your risk for breast cancer, but your lifestyle can have an impact as well. Whether or not you have a genetic mutation, its important to lower your risk whenever you can.
The following preventive measures may help you avoid a breast cancer diagnosis.
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