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Testing Algorithm Delineates Situations When Tests Are Added To The Initial Order This Includes Reflex And Additional Tests
Reflex testing will be performed using immunohistochemistry when the FISH result falls within certain ranges as defined by the 2018 focused update to the American Society of Clinical Oncology /College of American Pathologists guidelines. For FISH results in ASCO/CAP categories Group 2, 3, and 4 , the IHC testing will be added, charged, and reported separately. An integrated interpretation of the IHC and FISH results will be provided .
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Whether A Woman Should Be Screened For Breast Cancer And The Screening Test To Use Depends On Certain Factors
Women with risk factors for breast cancer, such as certain changes in the BRCA1 or BRCA2 gene or certain genetic syndromes may be screened at a younger age and more often.
Women who have had radiation treatment to the chest, especially at a young age, may start routine breast cancer screening at an earlier age. The benefits and risks of mammograms and MRIs for these women have not been studied.
Breast cancer screening has not been shown to benefit the following women:
- Elderly women who, if diagnosed with breast cancer through screening, will usually die of other causes. Screening mammograms for those aged 66 to 79 years may find cancer in a very small percentage of women, but most of these cancers are low risk.
- In women with an average risk of developing breast cancer, screening mammography before age 40 has not shown any benefit.
- In women who are not expected to live for a long time and have other diseases or conditions, finding and treating early stage breast cancer may reduce their quality of life without helping them live longer.
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What If My Doctor Suspects Breast Cancer
If your radiologist and physician suspect breast cancer, you may be required to have follow-up testing, including diagnostic mammography, breast ultrasound and/or needle biopsy. Rest assured that most of these findings are found to be normal breast tissue or benign tissue.
You may be sent to get a diagnostic mammogram, which differs from screening mammograms in that it focuses only on the abnormal area, giving a much higher quality image of suspected trouble. If definitive results are not found, you may go on to have a breast ultrasound, while women at very high breast cancer risk may benefit from having a breast MRI as well.
Expect To Have Extra Images Taken
The standard mammogram is two views of each breasta total of four pictures. But women with breast implants typically require a couple of additional views of each breast. The extra views are gathered to detect cancers that might be obscured by the implants.
Theyre called implant displacement views, says Dr. Patel, a member of the National Comprehensive Cancer Networks Guidelines Panel for Breast Cancer.
The breast is drawn out, pushing the implant toward the chest wall so more of the breast tissue is visualized with the mammogram, he explains.
Implant displacement views involve relatively little compression, just enough to keep the breast still, Dr. Baker notes.
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Magnetic Resonance Imaging May Be Used To Screen Women Who Have A High Risk Of Breast Cancer
MRI is a procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging . MRI does not use any x-rays and the woman is not exposed to radiation.
MRI may be used as a screening test for women who have a high risk of breast cancer. Factors that put women at high risk include the following:
- Certain gene changes, such as changes in the BRCA1 or BRCA2 genes.
- A family history with breast cancer.
- Certain geneticsyndromes, such as Li-Fraumeni or Cowden syndrome.
An MRI is more likely than mammography to find a breast mass that is not cancer.
Women with dense breasts who have supplemental screening show higher rates of breast cancer detection, but there is limited evidence about whether this leads to better health outcomes.
Which Blood Tests Are Used To Diagnose Cancer How Accurate Are They
Scientists can use genetic markers, which are genes or part of DNA sequences with fixed locations on certain chromosomes, to identify species or even individuals. Tumor markers are substances typically but not always proteins which are produced by cells in response to cancer, and therefore, tend to be present in elevated levels in cancer patients. Some examples of tumor marker blood tests for different types of cancer include:
Breast Cancer CA15-3/CA27.29 blood test
- According to a study published in Clinical Chemistry, CA27.29 discriminates primary breast cancer from healthy subjects better than CA15.3, especially in patients with limited disease.
Colorectal Cancer CEA blood test
- CEA levels become increasingly detectable as colorectal cancer progresses. According to a 2006 article published in Oncology, In a study of 358 patients who presented to surgery with a diagnosis of colon cancer, only 4% of patients with stage I disease had an elevated CEA whereas 25%, 44%, and 65% of patients with stage II, III, and IV disease, respectively, had abnormal levels.
Liver Cancer AFP blood test
- Unfortunately, the sensitivity and efficacy of AFP tests has been called into question by many scientists. As a 2005 study in Oxford medical journal HPB pointed out, AFP used alone can be helpful if levels are markedly elevated, which occurs in fewer than half of cases at time of diagnosis .
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Looking Into A Biological Crystal Ball
Several studies are currently looking into the possibility of diagnosing breast cancer at the cellular level. There is hope that someday researchers will be able to identify a turning point when biological substances become cancerous, thus leading to development of methods for detecting warning signals.
The National Cancer Institute alone has funded research into at least a half-dozen tests that involve examining typical and irregular proteins, molecules, genes, and other biological matter. One such large clinical trial in progress is a blood test. By analyzing concealed patterns of protein in blood, investigators propose being able to distinguish malignant tissues from benign ones.
Although this blood test is currently being tested only for ovarian cancer, researchers are hopeful the technology, once proven, could be adapted to other cancers. If everything goes well, investigators plan to compare the outcome of the trial with other blood test research around the country of other cancers.
One such study to detect breast cancer by looking at blood cells has already ended. The results? The blood test was 95% successful in spotting malignancies. The complete report is currently being reviewed for publication in a medical journal.
“Everything looks extremely exciting…but we want to move cautiously,” says Lance Liotta, MD, PhD, a principal investigator of the Clinical Proteomics Program, and chief of the laboratory of pathology at the National Cancer Institute.
What Is Breast Cancer Staging
To determine the stage of your cancer, doctors look at how large your tumor is, where it is, and if it has spread. They also look at your medical history, physical exams, diagnostic tests, and tests of your tumor and lymph nodes.
- Early-stage breast cancer includes stages 0, I, II and IIIA .
- In stage 0, there are abnormal cells in the ducts or lobes of the breast. They have not broken through the wall of the duct or spread.
- In stages I, II, and IIIA, there is a tumor. It may have spread to lymph nodes under the arm, but it has not spread anywhere else.
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Do You Need Tests For Later
Imaging tests. If your cancer is stage IIIB or IV, you should get an imaging test to look for cancer in other parts of your body. Treatment can depend on how much and where the cancer has spread.
Tumor marker tests. If you have later-stage breast cancer, your doctor may also use blood tests to look at tumor markers. These tests should be done only when it is known that you have advanced cancer.
This report is for you to use when talking with your healthcare provider. It is not a substitute for medical advice and treatment. Use of this report is at your own risk.
09/2012
Testing For Brca And Other Gene Mutations
Some expert groups have developed guidelines for which women should consider genetic counseling and possibly testing for BRCA and other gene mutations. These guidelines can be complex, and not all doctors agree with them, but in general they include two main groups of people:
Women who have already been diagnosed with breast cancer: Most doctors agree that not all women with breast cancer need genetic counseling and testing. But counseling and testing is more likely to be helpful if:
- You were diagnosed with breast cancer at a younger age
- You have triple-negative breast cancer
- You have been diagnosed with a second breast cancer
- You are of Ashkenazi Jewish descent
- You have a family history of breast cancer , ovarian cancer, pancreatic cancer, or prostate cancer
Other groups of people: Genetic counseling and testing might also be recommended for other people who are at higher risk for inherited gene mutations, including:
- People with a known family history of a BRCA gene mutation
- Women diagnosed with ovarian cancer or pancreatic cancer, or men diagnosed with breast cancer, pancreatic cancer, or high-grade or metastatic prostate cancer
- People with a family history of breast cancer at a younger age, more than one family member with breast cancer, or breast cancer in a male family member
- People with a close family member with a history of ovarian cancer, pancreatic cancer, or metastatic prostate cancer
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How Can Genetic Testing Help
Genetic testing can help determine the risk of cancer within a family and guide appropriate cancer screening. Depending on the specific genetic risk, different screening tests can be arranged, and risk-reducing strategies can be considered.
No, if you wish you can choose to be tested for some or all the nine genes in the panel. The number of genes tested will not affect the testing time or pricing.
There are three possible results:
If you have a pathogenic variant this will explain why you and/or your relatives have developed breast cancer and means that you have an increased risk of breast cancer and possibly other cancers. Your exact risk will depend on which gene pathogenic variant has been found. Extra screening and/or risk-reducing strategies will be discussed. It will also be possible to offer predictive testing to other people in your family to see if they also have the pathogenic variant.
How Genetic Testing Is Done
Genetic testing can be done on samples of blood or saliva, or from a swab of the inside of a cheek. The samples are sent to a lab for testing.
There are many different possible mutations in the BRCA genes. Testing can look for one specific mutation, or more extensive testing can be done to look for many different BRCA mutations. For example, if someone is being tested because they have a family member with a known BRCA mutation, testing might focus only on that specific mutation. In people of Ashkenazi Jewish descent, testing might focus on the specific BRCA mutations that are most common in this group of people. But if theres no reason to suspect a specific gene change, testing will likely look for many different BRCA mutations. Depending on the situation, testing might be done to look for changes in other genes as well.
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What Is Breast Cancer Screening
Mammograms are the best way to find breast cancer early, when it is easier to treat and before it is big enough to feel or cause symptoms.
Breast cancer screeningexternal icon means checking a womans breasts for cancer before there are signs or symptoms of the disease. All women need to be informed by their health care provider about the best screening options for them. When you are told about the benefits and risks of screening and decide with your health care provider whether screening is right for youand if so, when to have itthis is called informed and shared decision-making.
Although breast cancer screening cannot prevent breast cancer, it can help find breast cancer early, when it is easier to treat. Talk to your doctor about which breast cancer screening tests are right for you, and when you should have them.
When Results Are Positive
If you have a positive result on an at-home genetic test, you need to discuss and verify your results with your practitioner. You may need additional genetic tests that can identify a different variety of genes than the at-home tests do or that are more relevant to your family history and risk factors.
Your healthcare provider might recommend further diagnostic examinations, such as imaging and biopsy. And some people have even taken the more drastic step of preemptively having surgical treatment even in the absence of cancer.
Females who test positive for certain breast cancer genes have had procedures such as mastectomy , oophorectomy , or hysterectomy because some breast cancer mutations are also associated with an increased risk of ovarian or uterine cancer.
With all of this in mind, it becomes clear that decisions about further diagnosis and further treatment are complex and life-changing, requiring input and advice from experienced medical professionals who have seen the outcomes of cancer as well as the outcomes of treatment.
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Importance Of Early Detection
Prompt detection of breast cancer is important to find breast cancer in its earliest and most treatable stage. This may be before the person has any noticeable symptoms, so regular screening may be the most important tool for this early detection.
One notes that breast cancer is the second most common cause of death from cancer among women worldwide. Screening can help reduce this risk.
Research from 2016 notes that standard procedures for breast cancer screening can lead to a roughly in deaths from breast cancer.
The also notes that increasing screening practices for eligible people could:
- increase life expectancy
Breast Cancer Risk More Accurate After Genetic Test
Leiden University Medical Center has spent the past five years coordinating an international study of genetic mutations and breast cancer risks. The results will make it easier to determine which genes increase the risk of breast cancer and to what extent. The researchers published their results in the New England Journal of Medicine.
Women around the world who think they may have a higher risk of developing breast cancer, for example because of a family history, can be tested to see if they carry a genetic mutation, explains Peter Devilee, Professor of Genetics of Cancer. This is done in diagnostic laboratories with what is known as a multigene panel test, which determines whether several breast cancer genes contain a genetic mutation.
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What Will The Her2/neu Results Tell Me
There are four tests for HER2, and results of these may appear on your pathology report, which may take several weeks to come back.
The first one is the IHC test, which is short for ImmunoHistoChemistry. It looks at whether there is excess HER2 protein in the cancerous cells. A result of 0 or 1+ indicates there is no excess, 2+ is borderline, and 3+ means the cells test positive for HER2 protein overexpression.
The remaining three tests all examine if the cells contain too many copies of the HER2 gene. These tests include:
- The FISH test
- The SPoT-Light HER2 CISH test
- The Inform HER2 Dual ISH test
There are only two possible results for these three tests: positive, meaning HER2 gene amplification, or negative, indicating the number of HER2 genes is not excessive.
In the pathology report, breast cancers with HER2 protein overexpression and HER2 gene amplification are called HER2-positive. This type of cancer often grows faster, spreads to other areas more readily, and has a higher likelihood of recurring versus HER2-negative breast cancer.