Triple Negative Breast Cancer
Women who have a BRCA1 gene mutation tend to get breast cancers that are triple negative .
Triple negative breast cancers are:
- Estrogen receptor-negative
BRCA2 carriers tend to have breast cancers that are estrogen receptor-positive .
Diagnosis Of Brca1 And Brca2 Mutation
Getting tested for BRCA and other gene mutations may be simpler than it used to be, especially if your doctor has access to newer genetic tests that use a saliva sample, instead of a blood sample.
In the past, patients would be referred to genetic counseling for an hour and a half, and then you would get your blood drawn, Euhus explains. Then, you would wait three weeks for results. Now, at Johns Hopkins, it has all been streamlined. For patients who have never been tested, our breast surgeons bring up the option in the clinic for any patient who has just been diagnosed with breast cancer. Those who consent can get a spit kit and ship it directly to the testing company.
Once surgeons and oncologists determine whether or not a patients cancer is related to a specific gene mutation, such as BRCA1, BRCA2 or another type, its easier to plan therapy. Knowing the gene mutation can help the surgeon and oncologist tailor next steps in terms of surgery and medical treatment, Euhus says.
Multiple Endocrine Neoplasia Type 1 And 2
MEN is a rare inherited condition in which tumours develop in different parts of the body. There are 2 types, MEN1 and MEN2.
People with MEN1 usually develop tumours in the pancreas, parathyroid gland and pituitary gland. Tumours can also develop in the:
The tumours can be non cancerous or cancerous .
MEN2 is caused by a fault in the RET gene. MEN2 can cause a type of thyroid cancer called medullary thyroid cancer. People with MEN2 also have an increased risk of developing adrenal gland tumours.
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Brca Mutations And Other Cancers
Ovarian cancer occurs in roughly 1.3% of women in the general population. For those with BRCA1 mutations, 39% are expected to develop ovarian cancer, while 11 to 17% of those with a BRCA2 mutation will develop the disease.
There are other cancers that can be associated with BRCA mutations as well, such as prostate cancer, pancreatic cancer, and lung cancer.
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Groups At Higher Risk For Brca Gene Mutations
Some people have a higher risk for a BRCA gene mutation than others.
Some people have a higher risk for a BRCA gene mutation than others. Certain family history patterns indicate a higher risk for a BRCA1 or BRCA2 gene mutation.
You may be at increased risk for a BRCA1 or BRCA2 mutation if your family history includes
- Several relatives with breast cancer.
- Any relatives with ovarian cancer.
- Relatives who got breast cancer before age 50.
- A relative with cancer in both breasts.
- A relative who had both breast and ovarian cancers.
- A male relative with breast cancer.
- Ashkenazi Jewish ancestry and any relative with breast or ovarian cancer.
- A relative with a known BRCA gene mutation.
You may have a higher risk for a mutation if you have had
- Breast cancer before age 50.
- Male breast cancer.
- Breast cancer more than once.
- Ovarian cancer, fallopian tube cancer, or primary peritoneal cancer at any age.
- Both breast and ovarian cancers.
- Breast cancer or ovarian cancer at any age, and you are of Ashkenazi Jewish ancestry .
- Breast cancer and you have a family member with breast or ovarian cancer.
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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.
Genetic Tests For Brca Mutations
There are several different types of tests available for determining whether you are predisposed to BRCA1 and/or BRCA2 mutations.
- Comprehensive Testing: This looks for possible mutations across the entire length of the BRCA1 and BRCA2 genes.
- Single Site Testing: This searches for a specific mutation type after a hereditary mutation has been identified.
- Multisite Testing: This searches for three specific gene changes common to Ashkenazi Jewish ancestry.
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Brca1 And Brca2 Inherited Gene Mutations And Risk Factors For Breast Cancer
Women who have a BRCA1 or BRCA2 inherited gene mutation may be called BRCA1/2 carriers. Most risk factors for breast cancer in women likely impact risk the same way for women who are BRCA1/2 carriers and those who are non-carriers.
However, breast cancer risk for BRCA1/2 carriers with certain reproductive and lifestyle factors may be different from risk for non-carriers.
- Having children and a younger age at first childbirth are linked to a lower risk of breast cancer in the general population. In BRCA1/2 carriers however, some studies show no link between these factors and breast cancer risk .
- Drinking alcohol and current or recent use of birth control pills are linked to an increased risk of breast cancer in the general population. Its unclear whether these factors are linked to risk in BRCA1/2 carriers .
What To Do If Youre Concerned About Your Family History
If youre concerned about your family history of breast cancer, you may be able to have a family history risk assessment. A family history risk assessment will try to find out if you are at general population, moderate or high risk of breast cancer. Listen to a discussion of family history FAQs with one of our nurses.
The first step is to talk to a healthcare professional. Who you should talk to first will depend on your situation.
- If you have not had breast cancer yourself, you can talk to your GP , who will ask about your family history and may refer you to a specialist family history clinic or a regional genetics centre .
- If you have been diagnosed with breast cancer yourself, you can speak to a member of your specialist breast care team who will be able to refer you to a specialist family history clinic or a regional genetics centre if appropriate.
You should be referred for further assessment of your risk if:
- you or one close relative has had breast cancer before the age of 40
- you or one close relative has had breast cancer in both breasts
- you have had breast cancer known as triple negative
- you and one close relative have had breast cancer
- two or more close relatives have had breast cancer
- you have close relatives who have had breast cancer and others who have had ovarian cancer
- a male relative has had breast cancer
- you are of Ashkenazi Jewish ancestry.
You might also be referred if:
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Understanding Genetic Test Results
If genetic testing shows you have a BRCA1 or BRCA2 mutation, this does not mean you will definitely get cancer. You may have a higher risk of some types of cancer.
Your risk of cancer will depend on:
- whether you are male or female
- your age
Sometimes genetic testing does not find a BRCA1 or BRCA2 mutation. You may still have a higher risk of cancer because of the pattern of cancer in your family. Your genetics specialist will explain if you can have genetic testing for other types of mutation. You and your family may still be offered extra screening or treatment to reduce your risk of cancer.
- find cancer at an early stage, when it can be treated most effectively
- find and treat changes that are likely to develop into cancer.
Depending on your cancer risk, your genetics specialist will explain:
- which screening tests are useful for you
- when these tests should start
- how often you will need these tests.
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
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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A Rational Approach To Gene Mutations And Cancer Risk
Euhus stresses that not all genetic cancer risks are the same. Some genetic mutations increase the likelihood of cancer dramatically others, only by a few percentage points. These variations are important for doctors to understand, so they can work with the patient on a rational strategy for staying well.
Recommending any preventive treatment should be based on carefully calculating the actual risk to the patient. Practitioners can use tools to quantitatively calculate the probability of cancer, based on patient data. This extra attention can go a long way to avoid unnecessary, stressful and potentially harmful screenings, biopsies and surgeries.
Jewish Women And Brca Gene Mutations
If youre an Ashkenazi Jewish woman like me, you may be at higher risk for breast cancer before 45.Cara, age 30
Everyone has BRCA1 and BRCA 2 genes. Some people have changes, called mutations, in these genes. One in 40 Ashkenazi Jewish women has a BRCA gene mutation.
Mutations in BRCA genes raise a persons risk for getting breast cancer at a young age, and also for getting ovarian and other cancers. That is why Ashkenazi Jewish women are at higher risk for breast cancer at a young age. If your mother or father has a BRCA gene mutation, you have a 50% chance of having the same gene mutation.
If you are of Ashkenazi Jewish descent, you have a higher risk for a BRCA gene mutation. If either of the following are true, you should consider genetic counseling
- Any first-degree relative has been diagnosed with breast or ovarian cancer.
- Two second-degree relatives on the same side of the family have been diagnosed with breast or ovarian cancer. These can be relatives on your mothers or fathers side of the family.
Not every woman who has a BRCA gene mutation will get breast or ovarian cancer, but having a gene mutation puts you at an increased risk for these cancers.
Understanding your cancer risk and being proactive about your health may help you lower your risk for getting breast or ovarian cancer at a young age, or find it at an early stage when treatment works best. Find ways to take action.
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Microrna Repression Of Brca1 In Ovarian Cancers
In both serous tubal intraepithelial carcinoma ), and in HG-SOC itself, miR-182 is overexpressed in about 70% of cases. In cells with over-expressed miR-182, BRCA1 remained low, even after exposure to ionizing radiation . Thus much of the reduced or absent BRCA1 in HG-SOC may be due to over-expressed miR-182.
Another microRNA known to reduce expression of BRCA1 in ovarian cancer cells is miR-9. Among 58 tumors from patients with stage IIIC or stage IV serous ovarian cancers , an inverse correlation was found between expressions of miR-9 and BRCA1, so that increased miR-9 may also contribute to reduced expression of BRCA1 in these ovarian cancers.
Prevention Of Primary Manifestations
Several prospective and randomized clinical trials are investigating PARP inhibitor treatment of metastatic pancreatic cancer .
Studies to identify biomarkers of disease resistance and expected treatment toxicity are also underway .
Additional clinical trials are exploring the use of other PARP inhibitors alone or in combination with other systemic treatments.
Should I Be Tested For Genetic Mutations
At-risk families can take blood tests to look for mutations in these genes.
You may want to discuss genetic testing with your doctor if:
- You have two or more blood relatives — mother, sister, aunt, cousin, or daughter — with premenopausal breast cancer or ovarian cancer diagnosed at any age.
- You were diagnosed with breast cancer, especially before menopause, and have a blood relative with breast or ovarian cancer.
- You were diagnosed with ovarian cancer and you have blood relatives who have had ovarian or breast cancer.
- A male in your family has or had breast cancer.
- You or a family member has been diagnosed with bilateral breast cancer .
- You were diagnosed with triple-negative breast cancer before the age of 60.
- You are related to someone who has a BRCA1 or BRCA2 mutation.
- You are of Ashkenazi Jewish descent and have had breast or ovarian cancer or have blood relatives who have had breast or ovarian cancer.
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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Are There Symptoms Of Brca Gene Mutation
No, there are no specific symptoms of breast cancers caused by a BRCA1 or BRCA2 gene mutation, but your doctor may recommend a test and appropriate screenings if you have risk factors.
We would hope that all BRCA-related cancers would be identified on mammograms or MRI scans when they are small enough to be treated more easily, says Euhus.
This is one reason why it helps to know whether or not you carry a mutation, he explains. The value of genetic testing is that it enables you to be proactive and get regular screening, so that if cancer does occur, it can be diagnosed early.
Prenatal Testing And Preimplantation Genetic Testing
Once the BRCA1 or BRCA2 has been identified in the family, prenatal and for BRCA1– and BRCA2-associated HBOC are possible.
Differences in perspective may exist among medical professionals and within families regarding the use of . While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful. For more information, see the National Society of Genetic Counselors Position Statement on prenatal testing in adult-onset conditions.
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Understanding Your Family History Of Cancer
Not everyone with a BRCA1 or BRCA2 mutation has a family history of cancer. But in general, a gene mutation is more likely if there is a pattern of cancer in a family. These are examples of patterns:
- One of your first-degree relatives was diagnosed with breast cancer before the age of 40.
- Several family members have been diagnosed with breast cancer or ovarian cancer.
- A male relative was diagnosed with breast cancer.
- A relative had breast cancer in both breasts .
- You have a family history of cancer and you are from an Eastern European or Ashkenazi Jewish background. Some types of BRCA mutations are more common in these ethnic groups.
If you are worried about the pattern of cancer in your family, talk to your GP. They may be able to reassure you, or refer you to a genetics specialist.
If you meet a genetics specialist, they will talk to you about your familys history of cancer. They will explain if you are likely to have a higher risk because of the pattern of cancer in your family. If they think you may carry a BRCA1 or BRCA2 mutation, you may be offered a blood test to have genetic testing.
A BRCA1 or BRCA2 mutation may be found by a genetic blood test. You may be offered this test if you have:
I Have Tested Positive For A Genetic Mutation Should My Children Be Tested
Most of the cancers associated with genetic mutations affect adults, notes Euhus. TP53, a rare mutation, is an exception: If you find out you are carrying a mutation of this gene, it may warrant a discussion with your childs pediatrician, since it raises the risk certain childhood cancers.
For parents carrying other mutations that arent likely to cause cancer in children, Euhus says that a conversation can and should take place when the kids are older and can make their own choices.People should be tested for BRCA mutations when they are old enough to make decisions about their care, he advises.
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