Support For People With Inherited Gene Mutations
Some support groups are tailored to people with BRCA1, BRCA2 or other high-risk gene mutations and those with breast cancers related to inherited gene mutations.
Our Support section offers a list of resources to help find local and online support groups. For example, FORCE is an organization that offers online support for people at higher risk of breast, ovarian or other cancers related to family history or inherited gene mutations.
Sharsheret offers online support for Jewish women affected by hereditary breast and/or ovarian cancer.
Susan G. Komen® Support Resources
Guidelines For Genetic Testing For Breast Cancer
About 10% of breast cancers are related to inheritance of damaged genes. BRCA1 and BRCA2 are the genes most frequently implicated, but there are many other genes, such as PALB2, ATM, and CHEK2, that need to be considered as well. Genetic testing usually starts with a family member who has already developed a breast or ovarian cancer. If this individual is positive for a mutation then all of the other family members can be tested for the same mutation to determine who is high risk and who is not. If no one in the family is known to carry a mutation then the test is considered non-informative. That means the test was unable to tell us which relatives in the family are high risk. People who have inherited a damaged gene are at increased risk for breast and other cancers. The risk may be as high as 80% depending on the specific gene and family history. Guidelines for determining whether an individual should get genetic testing or not are constantly evolving. General criteria include:
- Someone in your family is known to carry a mutated gene
- Ashkenazi Jewish ancestry
- You were diagnosed with breast cancer before age 50
- A man in your family has been diagnosed with breast cancer
- You were diagnosed with ovarian cancer
- There are multiple breast cancers on one side of your family
- Cancer was diagnosed in both breasts
Understanding Breast Cancer Genetics
You don’t have to be a geneticist to understand the basics of breast cancer genetics. Genes are short segments of DNA, and DNA holds the instructions for building proteins. Proteins control the structure, growth, and function of all the cells in our bodies.
When DNA gets an incorrect set of instructions, cells don’t grow or function correctly. Any mistake in a gene will be in all the cells that contain that gene. These mistakes can be inherited, or they can happen over time as we age. It doesn’t mean they will be inherited or happen over time, only that they could be.
Gene mutations that are known to cause an increase in breast cancer risk are BRCA1 and BRCA2 . You may have heard doctors call them “brack-uh” or “breck-uh” genes. Everyone has these genes, and their function is to repair cell damage and keep breast and ovarian cells growing normally.
Genes come in pairs in your DNA strands. One comes from each parent. However, only one gene in a gene pair can be active. One gene is dormant, and the other is dominant. If a gene is dormant, it may do nothing right now, but you can pass it down to your children. Dominant genes are active in you and can also be passed to your children. In the case of BRCA genes, they’re always dominant. That means BRCA gene mutations will always increase your risk of getting breast cancer before age 70.
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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 .
What Are The Screening Options For Hboc
Screening is the use of different tests to find specific types of cancer before signs and symptoms appear. It is important to talk with your health care team about the following screening options, as each person is different:
Screening for women with a BRCA1 or BRCA2 gene mutation
Monthly breast self-examinations, beginning at age 18
Clinical breast examinations performed twice a year by a health care team or nurse, beginning at age 25
Yearly magnetic resonance imaging scans of both breasts, between ages 25 and 29.
Yearly mammogram and breast MRI, between ages 30 and 75.
Pelvic examination, trans-vaginal ultrasound, and CA-125 blood test every 6 months, beginning at age 30 to 35. It should be noted, however, that screening is not yet able to find most early ovarian cancers.
Consideration of prophylactic salpingo-oophorectomy, between ages 35 and 40, and once a woman is done giving birth to children
Screening for men with a BRCA1 or BRCA2 gene mutation
Screening options may change over time as new methods are developed and more is learned about HBOC. Talk with your health care team about appropriate screening tests for you.
Learn more about what to expect when having common tests, procedures, and scans.
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Knowledge Is Power And We Can Be Powerful Together
Your greatest asset in the fight against breast/ovarian cancer is knowledge of both the scientific facts and your own biology. This includes being educated on HBOC and the intrinsic link between breast and ovarian cancer. If caught and treated early, ovarian cancer patients 5-year survival rate is 92%. However, only 20% of cases are actually diagnosed this early. We need to change this. Please share this article with friends and family members. Keep up with us on social media for helpful tips, inclusive events, and up-to-date facts.
Higher Risk in the Ashkenazi Jewish Population
Why is the Ashkenazi Jewish population at higher risk?
- Breast cancer
Ready to take action? Knowledge is power. Take this short quiz to be proactive about your health.
If the DNA sequence is changed, like a spelling mistake, the instructions may not make sense. The technical term for this change is mutation, meaning there is a change to the usual genetic code that may change the instructions stored in the gene. A mutation in a gene that repairs DNA damage or controls cell growth can increase the risk of developing cancer.
Sporadic vs Hereditary Cancers:
BRCA 1 and BRCA 2: Most Common hereditary breast and ovarian cancer
Brca1 And Brca2 Inherited Gene Mutations
Like other inherited gene mutations, BRCA1 and BRCA2 gene mutations are rare in the general population. In the U.S., about 1 in 400 people have a BRCA1/2 mutation .
Prevalence varies by ethnic group. Among Ashkenazi Jewish men and women, about 1 in 40 have a BRCA1/2 mutation .
Learn more about BRCA1/2 mutations.
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Important Facts About Breast Cancer
1. Breast cancer is the most common form of cancer in women. Over 70,000 women develop breast cancer in Germany every year.
2. Men can also develop breast cancer. Every year 600 to 700 men in Germany are diagnosed with breast cancer.
3. Almost half of all breast cancer diagnoses are made in women between the ages of 50 and 69 years . Thats why women are invited to mammograms every two years during this period.
4. Age is a risk factor: just under every fifth breast cancer diagnosis is made in women who are younger than 50 years old.
5. From the age of 70, a womans risk of developing breast cancer decreases again.
6. The cure rate for breast cancer has improved significantly in the past few decades: from 50 to 60 percent in the 50s and 60s to 75 to 80 percent today.
7. Despite the good chances of recovery, over 17,000 women in Germany still die of breast cancer every year.
8. Around 30% of all women with breast cancer in Germany have a familial history of breast cancer and can have an examination for breast cancer genes carried out.
9. There are several genes that, if altered, can cause breast and ovarian cancer. The genes BRCA1 and BRCA2 are known and researched.
10. Changes in the breast cancer genes BRCA1 and BRCA2 can be detected in around 5 out of 100 women .
11. 60 out of 100 women with an altered BRCA1 gene will develop breast cancer by the age of 70.
12. 55 out of 100 women with an altered BRCA2 gene will develop breast cancer by the age of 70.
Brca1 Mutation Carriers Have Higher Chances For More Aggressive Breast Cancer
60% to 80% of women with the BRCA1 mutation have triple-negative breast cancer. Triple-negative means that the three most common types of receptors known to fuel most breast cancer growth are not present in the cancer tumor.
Its considered to be more aggressive and has a poorer prognosis than other types of breast cancer, mainly because there are fewer targeted medicines for treating triple-negative breast cancer.
It seems to be more common among younger women. Because its also more common in women with BRCA1 gene mutation, experts recommend that patients with triple-negative breast cancer younger than 60 get genetic counseling.
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Having Radiation To Your Chest
Women who were treated with radiation therapy to the chest for another cancer when they were younger have a significantly higher risk for breast cancer. This risk depends on their age when they got radiation. The risk is highest for women who had radiation as a teen or young adult, when the breasts are still developing. Radiation treatment in older women does not seem to increase breast cancer risk.
How Do I Get Tested For An Inherited Cancer Syndrome
Diagnosing an inherited cancer syndrome before or after cancer develops requires a combination of family history, genetic counseling, genetic testing, and laboratory testing. A genetic counselor or clinical geneticist can help you decide if genetic testing would be useful for you.
Genetic tests can be performed on a sample of fresh blood or on preserved tissue that was previously taken in a biopsy or surgery. Testing techniques can vary, and the technology is evolving rapidly. Some detailed laboratory testing can even be done years after an initial cancer diagnosis.
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Breast Cancer Cell Lines
Part of the current knowledge on breast carcinomas is based on in vivo and in vitro studies performed with cell lines derived from breast cancers. These provide an unlimited source of homogenous self-replicating material, free of contaminating stromal cells, and often easily cultured in simple standard media. The first breast cancer cell line described, BT-20, was established in 1958. Since then, and despite sustained work in this area, the number of permanent lines obtained has been strikingly low . Indeed, attempts to culture breast cancer cell lines from primary tumors have been largely unsuccessful. This poor efficiency was often due to technical difficulties associated with the extraction of viable tumor cells from their surrounding stroma. Most of the available breast cancer cell lines issued from metastatic tumors, mainly from pleural effusions. Effusions provided generally large numbers of dissociated, viable tumor cells with little or no contamination by fibroblasts and other tumor stroma cells.Many of the currently used BCC lines were established in the late 1970s. A very few of them, namely MCF-7, T-47D, MDA-MB-231 and SK-BR-3, account for more than two-thirds of all abstracts reporting studies on mentioned breast cancer cell lines, as concluded from a Medline-based survey.
Hereditary Breast Cancer: The Era Of New Susceptibility Genes
1Molecular Diagnostics Laboratory, INRASTES, National Center for Scientific Research Demokritos, Athens, Greece
Breast cancer is the most common malignancy among females. 5%10% of breast cancer cases are hereditary and are caused by pathogenic mutations in the considered reference BRCA1 and BRCA2 genes. As sequencing technologies evolve, more susceptible genes have been discovered and BRCA1 and BRCA2 predisposition seems to be only a part of the story. These new findings include rare germline mutations in other high penetrant genes, the most important of which include TP53 mutations in Li-Fraumeni syndrome, STK11 mutations in Peutz-Jeghers syndrome, and PTEN mutations in Cowden syndrome. Furthermore, more frequent, but less penetrant, mutations have been identified in families with breast cancer clustering, in moderate or low penetrant genes, such as CHEK2, ATM, PALB2, and BRIP1. This paper will summarize all current data on new findings in breast cancer susceptibility genes.
2. Patient Eligibility
The implementation of hereditary multigene panel testing arises many issues, such as which are the criteria that patients have to meet in order to undergo the test and the patient clinical management. The utilization of the test must be in compliance with the recommendations for genetic testing identified in the ASCO policy .
3.1. High-Penetrant Genes
Genetic Testing For Hereditary Breast And Ovarian Cancer
Genetic testing is available for hereditary breast and ovarian cancer. Most breast and ovarian cancer is not caused by inherited mutations, so genetic testing will not help most women with a family health history of breast and ovarian cancer. Genetic testing will not identify the cause for some hereditary breast and ovarian cancers, because the genes affected in these cancers are not yet known.
Genetic counseling before genetic testing for hereditary breast and ovarian cancer is important to determine whether you and your family are likely enough to have a mutation that it is worth getting tested. Usually, genetic testing is recommended if you have:
- A strong family health history of breast and ovarian cancer
- A moderate family health history of breast and ovarian cancer and are of Ashkenazi Jewish or Eastern European ancestry
- A personal history of breast cancer and meet certain criteria
- A personal history of ovarian, fallopian tube, or primary peritoneal cancer
- A known BRCA1, BRCA2, or other inherited mutation in your family
The BRCA1 and BRCA2 genes
Genetic counseling after genetic testing is important to help you understand your test results and decide the next steps for you and your family:
Swap In Some Good Habits To Help Lower Your Risk Of Cancer
Bad habits, like eating unhealthy foods or smoking, can further drive up your risk. The opposite is always true, so make certain lifestyle changes. Taking a low-dose aspirin can lower your chances of colon cancer, for instance, as can cutting back on red meat . Exercise and a diet rich in fruits and vegetables is a good idea for anyone, but especially those who have cancer in their family tree.
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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.
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 .
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