Genome Breakthrough Reveals New Information about Breast and Ovarian Cancers that could Improve Future Treatments
A new "treasure trove" of genetic information is being researched to identify how it can be used functionally and clinically in the treatment of certain breast and ovarian cancers. The study, a collaborative effort funded by the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), both part of NIH, was published in the journal Nature.
Findings of the study reveal that a difficult-to-treat type of ovarian cancer and Triple Negative Breast Cancer (TNBC) have similar molecular origins. Based on samples from 825 breast cancer patients, the new information may help doctors compare therapeutic data on treatment effectiveness.
Analyses of the genomic data confirmed there are four primary subtypes of breast cancer, each with its own biology and survival outlooks. The four groups are called intrinsic subtypes of breast cancer: HER2-enriched (HER2E), Luminal A (LumA), Luminal B (LumB) and Basal-like. A fifth type, called Normal-like, was observed, but because of small numbers (only eight specimens) the researchers were unable to rigorously study it.
One of the subtypes, Basal-like, is also known as Triple Negative Breast Cancer because it tests negatively for the tumor markers estrogen, progesterone and HER2. The research showed there were genomic similarities between the Basal-like subtype of breast cancer and "serous" ovarian cancer. Therefore, the two may eventually be susceptible to treatments that cut off blood supply to the tumor and compounds that target DNA repair, including certain chemotherapy drugs such as cisplatin.
Another interesting finding from the research is that when breast cancer samples identified as HER2 positive using standard methods were examined with new data, researchers were able to further identify them into two subtypes, suggesting that there are at least two types of clinically defined HER2-positive tumors.
These discoveries could lead to new treatments with drugs already approved for cancers in other parts of the body and new ideas for more precise and targeted breast cancer treatments. To read more about this exciting development, here is an in-depth story from the New York Times.
Diagnostic Radiation Exposure May Raise Breast Cancer Risk in Some BRCA1/2 Mutation Carriers
Women who carry the BRCA1 or BRCA 2 gene mutation are at higher risk for developing breast cancer so doctors recommend that these women be screened beginning as early as age 25. But the National Cancer Institute is reporting that the GENE-RAD-RISK study out of Europe reveals that diagnostic radiation exposure may raise breast cancer in some BRCA1/2 patients, especially those younger than 30.
Exposure to ionizing radiation is an established risk factor for breast cancer. BRCA1 and BRCA2 proteins are important in repairing DNA damage, including damage caused by radiation, and researchers have hypothesized that carriers of a mutation in one of these genes might be more sensitive than the general population to such radiation.
Previous studies designed to answer this question have had inconsistent results.
The new research focused on 1,122 women aged 18 or older who were known to carry a BRCA1 or BRCA2 mutation. The women in the study reported on their histories of all diagnostic procedures involving radiation to the chest or shoulders. Researchers used this information to estimate the cumulative dose of radiation to the breast for each woman. They then used national registries or medical records to confirm breast cancer diagnoses among the participants.
When compared with no exposure, any exposure to diagnostic radiation before age 30 was associated with almost double the risk of breast cancer in BRCA1/2 mutation carriers. Women who received the highest doses of radiation before age 30 had an almost four-fold higher risk. By contrast, there was no evidence of an increased breast cancer risk associated with exposure at ages 30 to 39.
The findings support the recommendation to use non-ionizing radiation imaging techniques such as MRI as the main tool for surveillance in young BRCA1 and BRCA2 mutation carriers.
Younger BRCA 1/2 carriers will need to talk to their doctors about benefits and risks of early screening.
For more information on this story, please visit this National Cancer Institute (NCI) article.
New Device Reduces Repeat Surgeries After Lumpectomy
Up to 40% of women who have a lumpectomy-the removal of a breast cancer tumor and some surrounding tissue called a margin-may have to have additional surgery. That's because it takes one to two weeks to study the specimen to see if the margins contain any cancer cells. If cancer is present, further surgery is required to ensure all of it is removed.
The FDA recently approved a new device called MarginProbe which allows surgeons to look for cancer cells in the margin that only takes about five minutes-while the 
patient is still in the operating room. If more cancer cells are found, more tissue can be removed immediately, reducing the number of surgeries the patient needs.
It is not certain when the device will be used in U.S. operating rooms. However, the makers of the device are launching a clinical trial in the U.S. that will involve more than 600 women in more than a dozen medical centers in New York City, Baltimore, Washington DC, Allentown PA and Los Angeles.
For additional information, please see cancer.net or the FDA's website.
Recurrence Score Now Available for ER+ Patients with Lymph Node Involvement
Previously, we knew that a 21-gene test could help predict whether cancer would return to estrogen-receptor positive patients whose breast cancer had NOT spread to the lymph nodes.
Now, a gene test can provide a Recurrence Score (RS) for those whose disease has spread to the axillary (underarm) lymph nodes.
Researchers found that 76% of the patients who lived at least 10 years with no signs of the disease had a low RS, compared with 48% of those with a high RS. They also showed that 81% of the patients who did not have the disease return in a distant location within 10 years had a low RS, compared with 56% for those with a high RS. In addition, 90% of patients who lived at least 10 years after diagnosis had a low RS, compared with 63% for those with a high RS.
Doctors who have an ER+ patient with lymph node involvement, may use the RS test as part of the diagnostic workup to predict the risk that the disease will come back, as well as to help guide treatment options.
For more information, click HERE.
