Sharing Article of Breast Cancer Diagnostic Tool

This is great news that was published this past week and it must be shared with all women in the fight against breast cancer. Please share this article with a friend .

Below is an image of detecting chromosome translocations in sections of breast. 

 In breast cancer, we have shown that the NRG1/heregulin gene is translocated in 6% of primary cases and Soda and colleagues described fusions of ALK in 7% of lung cancers .
 

 Article

Pathologists today know that there are certain gene mutations that are predictive of cancers; for example, women with the BRCA1 or BRCA2 mutation are at a greater risk of developing breast and/or ovarian cancer. What is less known is the availability of genetic HER-2/neu FISH testing, a sophisticated laboratory test able to better determine treatment options for an aggressive form of breast cancer. This information is important because it helps doctors to determine the best course of treatment for each patient.
“HER-2/neu FISH testing is considered the gold standard because it has the advantage of looking at each tumor cell individually,” said Olga Falkowski, MD, a board-certified pathologist who serves as the Associate Medical Director and Director of Genetics at Acupath Laboratories, Inc., a national medical laboratory based in Plainview, NY. “Under U.S. Food & Drug Administration guidelines, all women with invasive breast cancer are eligible to undergo the test.”
In the body, the HER protein is a normally occurring substance that helps cells grow and stay strong. In about 20 percent of breast cancers, patients are HER-2 positive, meaning that cancer cells underwent genetic mutations responsible for production of excess protein called the HER-2/neu or human epidermal growth factor receptor 2. Patients with the genetic mutation HER-2 in breast cancer are eligible for a targeted therapy. Because of this, both the American Society for Clinical Oncology and National Comprehensive Cancer Network recommend HER-2/neu testing for all breast cancer tumors.
Women who undergo a biopsy for a suspicious lump and are diagnosed with cancer first receive immunohistochemistry or IHC of HER-2/neu testing as part of their initial laboratory workup. If the IHC testing is positive for Her-2/neu, then FISH is performed to confirm the genetic mutation.
What makes FISH or fluorescence in situ hybridization testing different and generally more effective, Dr. Falkowski said, is that it examines each individual cell of the tumor. “That’s a huge advantage,” she added. “The more a doctor knows about a tumor and its characteristics, the better that doctor can determine the most effective treatment options. The HER-2/neu FISH test tends to be more reliable.”
IHC testing quality can vary between laboratories based on the type of antibodies the lab uses, the way the lab prepares the tissue sample, and its criteria for determining the presence of HER-2, which is not the same everywhere. “Different labs have different reading systems,” Dr. Falkowski explained.
FISH testing is a more complex procedure, but is more specific and sensitive. It uses fluorescent probes to identify, tag and count the presence of genes that cause excessive production of the HER-2 protein in each individual cell. If more than two copies of the gene are found in each cell, the cancer is determined to be HER-2 positive and treated as such.
“It’s a more reproducible test, meaning the results from one lab to another should be the same,” Dr. Falkowski explained, adding that the HER-2 protein can also affect the aggressiveness and treatment of gastric and ovarian cancer. “Because it’s expensive technology, HER-2/neu FISH testing isn’t available everywhere, so doctors and their patients should know to ask for it,” adds Dr. Falkowski.
A concrete, reliable diagnosis of whether a woman with breast cancer is HER-2 positive will help lead to the best possible treatment starting immediately, improving survival and helping prevent recurrence. Standard chemotherapy drugs can be effective in treating Her-2/neu-positive patients, though more effective are two drugs that specifically target the Her-2/neu protein, trastuzumab (Herceptin) and lapatinib (Tykerb). Trastuzumab can be used alone or in conjunction with chemotherapy or hormone-blocking medications, though it comes with some potentially risky side effects, including congestive heart failure. Lapatinib is also generally used in combination with chemotherapy, most often in patients who have problems with trastuzumab. A promising new drug called trastuzumab emtansine or T-DM1 that combines several agents is also currently in clinical trials.
Dr. Falkowski continued, “As dramatic as this may sound, it’s true: For some women, HER-2/neu FISH testing could mean the difference between life and death.”
Olga Falkowski, M.D. is board-certified in anatomic and clinical pathology by the American Board of Pathology, and serves as the Associate Medical Director and Director of Genetics at Acupath Laboratories, Inc.
Acupath Laboratories, Inc. is a Plainview, New York, specialty medical lab engaged in cutting-edge diagnostics. http://www.acupath.com

http://www.prweb.com/releases/2012/5/prweb9457999.htm

Important Cancer Findings For Women Concerning Breast Cancer

Hundreds of more breast cancer patients should be tested for the BRAC1 gene mutation test.  What exactly is the BRAC1?  It is is a human caretaker gene that produces a protein called breast cancer type 1 susceptibility protein, responsible for repairing DNA.  BRCA1 is expressed in the cells of breast and other tissue, where it helps repair damaged DNA, or destroy cells if DNA cannot be repaired. If BRCA1 itself is damaged, damaged DNA is not repaired properly and this increases risks for cancers.

A BRCA mutation is a mutation in either of the genes BRCA1 and BRCA2. Harmful mutations in these genes produce a hereditary breast-ovarian cancer syndrome in affected families. Mutations in BRCA1 and BRCA2 are uncommon, and breast cancer is relatively common, so these mutations consequently account for only five to ten percent of all breast cancer cases in women.



BRCA Testing Kit and Where the BRCA Gene is Located

The researchers – funded by Cancer Research UK and led by scientists at The Institute of Cancer Research – looked at more than 300 women with TN breast cancer and found BRCA1 mutations in nearly one in five women diagnosed under 50.
But due to the cost of testing for the BRCA1 mutation, NICE guidance recommends that BRCA1 should be offered if the likelihood of detecting a mutation is greater than 20 per cent, although many testing centres offer it if the likelihood is between 10-20 per cent.
Centres use a range of criteria and methods to determine if a patient is eligible for testing. But this requires specialist knowledge and software and potentially misses hundreds of women a year.
Based on their findings the researchers estimate more than one in three women with TN breast cancer caused by BRCA1 mutations would not have been tested using the current criteria.
Lead author Professor Nazneen Rahman, a Cancer Research UK funded researcher at the Institute of Cancer Research and the Royal Marsden Hospital, said: “Our findings show that women diagnosed with triple-negative breast cancer under 50 should be offered BRCA1 testing. Using a simple age criteria for testing will provide a clear and understandable guide for doctors and women to follow, and should result in many more women benefitting from the optimised care that genetic information makes possible.”
Changing the current testing guidelines could mean an extra 1,200 tests a year, which the researchers acknowledge will place an extra burden on current genetic testing services.
Professor Rahman added: “There are hurdles to overcome so that NHS testing services can cope with more BRCA1 testing, but we’re moving towards an era of faster and cheaper genetic testing, so it will soon be possible.”
Women carrying the BRCA1 mutation have up to a 65 per cent chance of developing breast cancer by the time they are 70. But only around one in 900 women in the general population carry a BRCA1 mutation.
Breast cancers with BRCA1 mutations can respond well to treatment with platinum-based drugs, such as carboplatin and cisplatin, and also to radiotherapy. But they can develop resistance to the treatment and start to grow again.
Rowena Kincaid, 36, from Cardiff, was diagnosed with breast cancer in July 2009 after finding a lump. It was confirmed as triple negative and she underwent a lumpectomy followed by four months of chemotherapy and radiotherapy. She is now doing well, is back at work and took part in Race for Life in 2011.
She said: “I am interested to know about the genetic testing, as I know there has been cancer in the family. To be offered the chance to find out if I carry the BRCA1 mutation would not only give me insight to my own disease but also allow me and my family to discuss with our doctors if we carry the mutation what the next steps would be.” Professor Peter Johnson, chief clinician at Cancer Research UK, said: “It’s important that we identify women and their families who carry BRCA1 mutations. They’re more likely to develop breast and ovarian cancer, so armed with this knowledge doctors can offer targeted screening and tailored treatments to these women.
“The NHS needs to adapt so that tests for BRCA1 can be offered to women who are likely to carry the mutation. This approach will be cost-effective for the NHS in the long-term, leading to a substantial reduction in the number of breast and ovarian cancers by offering preventative treatments for those women and their families who are at greatest risk.”
More information: L. Robertson et al BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years British Journal of Cancer (2012). doi:10.1038/bjc.2012.31