Genetic Testing For Breast Cancer At Roswell Park
Our board-certified genetic counselors can help determine whether you should undergo genetic screening, arrange for testing, and explain what the results mean for you and your family. Our Genetics team provides:
- Genetic counseling to help you understand the biology and genetics of cancer
- Construction of your genetic pedigree to look for patterns that may show an increased risk for cancer
- Orders for genetic testing
- Explanation of your test results. We will discuss your options for reducing your risk, surveillance and screening going forward
To request an appointment for genetic consultation, call 1-800-ROSWELL .
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Genes Mutations And Cancer
Cancer is a disease in which cells grow out of control. This happens because of changes in some of the genes inside cells. Genes are pieces of DNA that control how cells make the proteins the body needs to function, as well as how cells are kept in balance. Your genes affect things such as hair color, eye color, and height. They can also affect your chance of getting certain diseases, such as cancer.
Nearly every cell in your body has all of the genes you were born with. Although all cells have the same genes, different cells may use different genes. For example, muscle cells use different genes than skin cells use. The genes that the cell doesnt need are turned off and not used. The genes that the cell is using are activated or turned on.
An abnormal change in a gene is called a mutation. Mutations in a gene can affect how it functions. For example, a mutation might stop a gene from working. Or it might keep a gene turned on all the time . Either way, these can cause problems inside the cell.
Gene mutations can be either inherited or acquired.
Many family cancer syndromes are caused by inherited mutations in tumor suppressor genes. These are genes that normally keep cells under control by slowing down how often they divide , repairing DNA mistakes, or telling cells to die at the right time.
For more information about gene changes that can lead to cancer, see Genes and Cancer.
How Will Genetic Testing Help You And Your Patient
If a mutation is identified :
- Clinical intervention can improve outcomes.
- Risk-reducing mastectomy lessens the risk of breast cancer by at least 90%
- Annual magnetic resonance imaging plus mammography increases detection rate for breast cancer
- Risk-reducing salpingo-oophorectomy decreases the risk of ovarian cancer by at least 80% and, if performed prior to menopause, can reduce the risk of breast cancer by at least 50%
- Chemoprevention, e.g. tamoxifen, may be considered for some women as a risk-reducing option.
If a mutation is not identified and testing was for a known familial mutation :
- Your patient is not considered to be at increased risk of developing hereditary cancer but may still be at increased risk of cancer depending on family history
- You can provide reassurance to your patient and their children
Table 2. Significant lifetime cancer risks for individuals who have inherited a mutation in the BRCA1 or BRCA2 gene as compared to the general population.
|2-6x increased risk||~14%|
NOTE: The literature suggests that there is also an increased lifetime risk for other cancers such as melanoma and pancreatic cancer in BRCA mutation carriers.
S Morrison MS CGC, C Cremin MS CGC, E Tomiak MD FRCPC, JE Allanson MD FRCPC and JC Carroll MD CCFP
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What Other Cancers Are Linked To Harmful Variants In Brca1 And Brca2
Harmful variants in BRCA1 and BRCA2 increase the risk of several additional cancers. In women, these include fallopian tube cancer and primary peritoneal cancer , both of which start in the same cells as the most common type of ovarian cancer. Men with BRCA2 variants, and to a lesser extent BRCA1 variants, are also at increased risk of breast cancer and prostate cancer . Both men and women with harmful BRCA1 or BRCA2 variants are at increased risk of pancreatic cancer, although the risk increase is low .
In addition, certain variants in BRCA1 and BRCA2 can cause subtypes of Fanconi anemia, a rare syndrome that is associated with childhood solid tumors and development of acute myeloid leukemia . The mutations that cause these Fanconi anemia subtypes have a milder effect on protein function than the mutations that cause breast and ovarian cancer. Children who inherit one of these variants from each parent will develop Fanconi anemia.
Taking Charge: Who Gets Breast Cancer
There are no rules about who gets this disease. The two most significant risk factors are being a woman, and increasing age. However, there are other factors that may increase your risk, and some that may lower it.
The development of breast cancer may be influenced by factors that affect the levels of female hormones that circulate in your body throughout life. These factors include the age when you began your menstrual period, the number of times you have been pregnant, your age at first pregnancy, whether you have breastfed your children, and your level of physical activity.
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What Difference Will This Project Make
Understanding how changes in this region of the DNA are linked to an increased risk of breast cancer will help us understand the similarities and differences between breast cancer in men and women. This could help us develop better ways to prevent the disease and reveal new ways we could treat it.
Make a donation to support our research
Ovarian Cancer And Other Cancers
BRCA1 and BRCA2 mutations increase a womans risk of ovarian cancer, pancreatic cancer and melanoma .
BRCA1/2 mutations may also increase the risk of other cancers . However, data are limited and these topics are still under study.
For a summary of research studies on BRCA1 and BRCA2 mutations and cancer, visit the Breast Cancer Research Studies section.
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How Your Test Results Can Help You
A positive result for breast cancer genes can be difficult to deal with. But you can use this information to your advantage.
If we know you have a breast cancer gene alteration, we can take extra steps to catch cancer early, when its most treatable, Dr. Eng says. Your providers can perform enhanced screenings starting at an early age, usually 25 or 30, depending on the gene. Knowledge is power.
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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How Do You Recognize A Family Cancer Syndrome
Its important to keep in mind that cancer is common. In fact, about 1 in 3 people in the United States will develop cancer during their lifetime, so its not uncommon to have many cancers in a family.
When many cases of cancer occur in a family, it is most often due to chance or because family members have been exposed to a common risk factor, such as smoking.
Sometimes there might be an interaction between certain genes and exposures. For example, some people inherit gene changes that make it harder for their bodies to get rid of toxins in tobacco smoke. These people might be more likely to get cancer if they smoke than someone who does not have these gene changes.
Less often, cancers in a family are strongly linked to an inherited gene mutation that is part of a family cancer syndrome.
Certain things make it more likely that cancers in a family are caused by a family cancer syndrome, such as:
- Many cases of the same type of cancer
- Cancers occurring at younger ages than usual
- More than one type of cancer in a single person
- Cancers occurring in both of a pair of organs
- More than one childhood cancer in siblings
- Cancer occurring in the sex not usually affected
- Cancer occurring in many generations
When trying to determine if cancer might run in your family, first gather some information. For each case of cancer, look at:
What Happens If My Test Is Positive For Hereditary Breast Cancer Risk
If testing confirms you are at risk, your care provider can work with you on a plan to safeguard your health, which could include:
- High-risk evaluation and monitoring
- Screening schedules, including digital mammography and clinical breast exams
- Hormonal therapy medications designed to prevent the development of breast cancer
Preventive surgery, such as mastectomy with breast reconstruction, is necessary only for patients at very high risk for aggressive breast cancer.
A comprehensive breast center offers a safe and supportive environment where you can ask questions and get the best answers for you, Ninan says. Every patients decision about how to handle their risk of developing breast cancer is managed with sensitivity and an understanding about the complexity of these decisions.
Is It Possible To Do Brca Testing With At
Some at-home DNA test kits offer BRCA testing. At the moment, these tests are capable of detecting only three out of thousands of known BRCA variations. According to the National Cancer Institute , this means that an individual may test negative using an at-home kit, while in reality they may have a harmful mutation that the test did not recognize. Whats more, without the assistance of genetic counselor, interpreting the results may be difficult.
By contrast, genetic testing at a medical center like Yale Medicine searches for all known variants of BRCA1 and BRCA2, as well as other mutations in other genes, and genetic counselors are available to help patients understand their results.
Guidelines For Breast Cancer Screening
If you have a genetic risk factor for breast cancer, regular screening is an essential part of your care. Specialists have access to additional resources for calculating patients breast cancer risk, and can use these data to recommend screening schedules. Your doctor will recommend a screening plan thats most appropriate for you.
At Johns Hopkins, enhanced surveillance for high-risk patients consists of a breast exam every six months, alternating mammograms with MRI scans to minimize radiation exposure, says Ninan. For women with a family history of breast cancer but with no known gene mutation, screening can begin five years before the earliest age at diagnosis in the family. For example, if your mother was diagnosed when she was 35, you should begin screening when you are 30.
For women with a BRCA1 or BRCA2 mutation, screening could start as early as age 25, Ninan says. There is some concern that the radiation exposure from mammograms performed before age 30 could increase breast cancer risk, especially in BRCA1 and BRCA2 mutation carriers. With that in mind, screening early in life usually consists of breast exams and MRI scans, if called for.
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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?
What Are The Estimated Cancer Risks Associated With Hboc
Cancer risks for women with HBOC
Lifetime risk of breast cancer 45% to 75%
Lifetime risk of ovarian cancer
BRCA1 gene mutation 25% to 40%
BRCA2 gene mutation 10% to 20%
Developing a second breast cancer 20% to 40%
Cancer risks for men with HBOC
Lifetime risk of breast cancer
BRCA1 gene mutation 1% to 2%
BRCA2 gene mutation 6%
BRCA1 gene mutation some increased risk
BRCA2 gene mutation 20%
Men with a BRCA2 gene mutation have a significantly increased risk of developing more aggressive prostate cancer before age 65 and therefore screening should begin at age 40.
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Who Is At Risk Of Hereditary Breast And Ovarian Cancer Syndrome
Researchers estimate that around 1 in 300 to 1 in 800 people have a harmful mutation in the BRCA1 or BRCA2 genes. Some groups, however, are more likely to have mutations in these genes. For instance, approximately 1 in 40 people of Ashkenazi Jewish descent have a mutation in BRCA1 or BRCA2.
Because HBOC is an inherited syndrome, family history of breast, ovarian, and certain other cancers is an important risk factor. If one parent has a BRCA1 or BRCA2 mutation, each of their children will have a 50% chance of inheriting the mutation.
Treatment Options For Thyroid Cancer
Staging of cancer helps doctors find out the extent to which the cancer has spread and determine the best course of treatment.
Surgery is the preferred treatment option for thyroid cancer where
doctors may choose to do lobectomy which involves removal of the cancerous lobe in the thyroid gland or thyroidectomy where the entire thyroid gland is removed. If the cancer is found to have spread to lymph nodes, they are removed as well.
Radioiodine therapy uses a form of iodine to destroy cancer cells in the thyroid gland. As only the thyroid gland can absorb iodine the damage is limited to thyroid cells with no effect on other organs.
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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.
What You Need To Know
- About 10% of breast cancers are related to inheritance of damaged genes, including breast cancer genes.
- In addition to BRCA1 and BRCA2, other genes are associated with increased cancer risk, such as: PALB2, ATM, CHEK2, CDH1, STK11, PTEN, TP53 and NF1.
- If you have inherited a damaged gene, the risk of developing breast cancer or other cancers can be as high as 80% depending on the specific gene and your family history.
- Whether you get tested for genes that put you at risk for cancer is a personal decision, and should be considered carefully with the help of your doctor and family.
- Regular monitoring and preventive surgery are options to discuss with your doctor if you are at risk for hereditary breast cancer.
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Pathological Characteristics Of Hereditary Breast Cancer
The majority of invasive breast cancers arising in BRCA1 and BRCA2 carriers are invasive ductal carcinomas . A higher frequency of BRCA1 tumors are classified as medullary carcinomas compared to sporadic tumors ., Medullary carcinomas are poorly differentiated, high-grade carcinomas with diffuse lymphocytic infiltrate but with a remarkably favorable prognosis, probably because of low incidence of lymph node metastasis. Notably, 11% of medullary carcinomas carry BRCA1 germline mutations. By contrast, excess of invasive lobular and tubular carcinomas has been reported for BRCA2 relative to BRCA1 tumors.,BRCA1 tumors are more frequently high-grade compared to sporadic tumors. They have a higher number of mitosis, and show a high frequency of necrotic areas and a higher proportion of continuous pushing margins and lymphocytic infiltration. All these features point toward a more aggressive tumor type., Most BRCA2 tumors are grade 2/3 with high mitotic rates. Continuous pushing margins are also characteristic of BRCA2 tumors.
In contrast to BRCA1 tumors, BRCA2 tumors seem to be more similar to sporadic tumors with relation to the expression of IHC markers. Most BRCA2 breast tumors show a luminal phenotype by overexpressing ER and PR and the cytokeratins CK8 and CK18.
Search Of Published Studies
Published studies were identified using the PubMed databases from 1980 to 2000, using the search terms breast, cancer, risk, and polymorphism. For each specific candidate gene, a separate search was performed. For example, the terms HRAS1, breast, cancer, and risk were used for HRAS1. In addition, the references of studies identified by the electronic searches were also evaluated. Studies eligible for our pooled analysis were those that compared genotype or allele frequencies of candidate genes in breast cancer cases with non-breast cancer controls using genomic DNA. The polymorphisms reported in breast cancer patients and controls in more than one study are described separately. When more than one polymorphism in one gene or polymorphisms in different genes in the same region were examined in only one single study, they are also included. The different genes along with their localisation and presumed function are presented in table 1.
Breast cancer susceptibility genes with their localisation and presumed function
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