“The use of genetic tests aimed at detecting the presence of mutations in the BRCA1 and BRCA2 genes in women with breast cancer is rapidly declining in favor of tests that can detect multiple cancer-associated mutations, according to researchers at the Stanford University School of Medicine and five other U.S. medical centers.
“Some researchers had wondered whether multigene testing, which may identify genetic mutations of uncertain clinical significance, would lead more women to consider prophylactic mastectomies — a surgery in which both breasts are removed to prevent future cancers — out of an abundance of caution. However, the current study did not show an increase in mastectomies associated with testing more genes.”
“A few months ago, olaparib (Lynparza, AstraZeneca) was the first drug approved to treat women with advanced breast cancer with germline mutations in BRCA.
“That approval was based on a significant improvement in progression-free survival (PFS) compared with standard chemotherapy shown in the OlympiAD trial. The results led to quite some excitement among breast cancer researchers, as for example in the Medscape Oncologycommentary ‘OlympiAD: Olaparib Captures Gold for BRCA-Mutated Breast Cancer Patients.’
“Now, however, a final analysis of OlympiAD results shows that overall survival (OS) did not significantly improve.”
“The FDA authorized marketing the direct-to-consumer Personal Genome Service Genetic Health Risk Report for three mutations of BRCA1 and BRCA2 most common among people of Eastern European Ashkenazi Jewish descent, according to a press release.
“The test — marketed by 23andMe — analyzes DNA using self-collected saliva samples to determine whether a woman is at increased risk for breast and ovarian cancer and whether a man is at increased risk for breast or prostate cancer.”
“The U.S. Food and Drug Administration today expanded the approved use of Lynparza (olaparib tablets) to include the treatment of patients with certain types of breast cancer that have spread (metastasized) and whose tumors have a specific inherited (germline) genetic mutation, making it the first drug in its class (PARP inhibitor) approved to treat breast cancer, and it is the first time any drug has been approved to treat certain patients with metastatic breast cancer who have a “BRCA” gene mutation. Patients are selected for treatment with Lynparza based on an FDA-approved genetic test, called the BRACAnalysis CDx.”
“Women who have BRCA mutations do just as well after treatment for breast cancer as other patients, British researchers reported Thursday.
“It’s good news for people with BRCA1 and BRCA2 mutations that raise their risk of cancer. If they get cancer and have standard treatment, they live as long as breast cancer patients without the mutation.”
“The PARP inhibitor talazoparib significantly increased progression-free survival (PFS) over physician’s choice of therapy in a randomized phase III trial of patients with advanced breast cancer and a germline BRCA mutation.
“ ‘Talazoparib is a highly potent, dual-mechanism PARP inhibitor. It prevents the repair of DNA damage, and results in cell death,’ said Jennifer K. Litton, MD, of the University of Texas MD Anderson Cancer Center in Houston. A previous phase II study showed encouraging efficacy with the agent in patients with BRCA1/2 mutations, which led to the new EMBRACA trial. Litton presented results of the trial at the 2017 San Antonio Breast Cancer Symposium (SABCS), held December 5–9.”
“Two new studies presented at the Annual Scientific Meeting of the American Urological Association (AUA) offer an improved understanding of some genetic underpinnings of prostate cancer. In one, researchers found that BRCA mutations may raise the risk of the malignancy substantially, while another found a high rate of mutations among other DNA repair genes as well.
” ‘These studies reveal new insights into the role genetic mutations play in the development of prostate cancer, particularly metastatic disease,’ said Scott Eggener, MD, of the University of Chicago Medicine, who moderated the session with these studies, in a press release.”
“All 13 newly diagnosed breast cancer patients with BRCA mutations had their tumors shrink significantly when treated with a PARP inhibitor ahead of frontline presurgical chemotherapy in a pilot study at The University of Texas MD Anderson Cancer Center.
“Tumor shrinkage after two months of treatment with the PARP inhibitor talazoparib, measured by ultrasound, ranged from 30 to 98 percent with an average reduction in tumor volume of 78 percent among the 13 patients.”
“With cancer, there are generally two scenarios – you either have it or you don’t. But I am somewhere in the middle, stuck inside a vortex. I don’t have cancer, but as a notable breast surgeon told me, ‘For you, it’s not a matter of if you’ll get it, but when.’ And so I find myself on permanent standby… just waiting.
“While many women at risk for cancer opt to have themselves tested for the BRCA gene mutation, which significantly increases one’s risk of developing breast, ovarian and pancreatic cancer, it’s not a test I would have chosen to take, given the absence of cancer in my family.
“My husband was adopted and wanted to learn more about his genetic makeup, so he selected an online genetics test, 23andMe, and out of curiosity, I decided to join him.”
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