Search Results for brca

Role of Chromatin on PARP Inhibitor Responses in BRCA-Mutant Ovarian Cancer

Mutations in genes involved in the BReast CAncer (BRCA)-dependent DNA repair pathway represent approximately 50% of high-grade serous ovarian carcinoma. This ovarian cancer type is one of the most aggressive and difficult malignancies to treat. Precision medicine based on Poly (ADP-ribose) polymerase inhibitors (PARPi) have demonstrated promising clinical efficacy but the inevitable emergence of resistance and associated adverse side effects have limited the benefits of this therapy…

Synthetic Lethality of the Protexin and BRCA Complexes in Ovarian Cancer

Our DNA is constantly exposed to agents that can cause damage to them. In addition whenever cells divide, errors can form. These errors, called mutations, can lead to the changes in the function of critical genes that are necessary for guarding our genomes against further abnormalities, which can lead to cancer. Certain patients inherit mutations in some of these critical genes…

iPSC Modeling of Ovarian Cancers in BRCA1 & 2 Mutation Carriers

Survival from a diagnosis of ovarian cancer continues to be significantly affected the usually late stage of disease diagnosis and the lack of clinical biomarkers to detect the disease at the earliest most treatable stages, then survival rates would likely increase and mortality rates decrease significantly. We hypothesize that the development and characterization of human avatars of fallopian tube epithelium (FTE) differentiated from induced pluripotent stem cell (iPSC) models of women carrying germline BRCA1/BRCA2 mutations can identify novel molecular mechanisms and biomarkers of early-stage pathogenesis for high grade serous ovarian cancers (HGSOCs)…

Chemopreventative Targets in BRCA1 Carrier Models with P53 Lesions (Gail Baird Foundation Research Grant Recipient)

Gail Baird Foundation Research Grant Recipient Ovarian cancer (OC) ranks among the top five deadliest cancers in women and its low survival rate has not improved significantly in the last 40 years. Relatively no new drug therapies for prevention and treatment are available because of a lack of understanding in the early mutations leading to the development of this devastating disease…

BRCA-deficient Ovarian Cancer and IFITM3: a New Power Couple

More than 14,000 patients in the United States die of ovarian cancer each year, making this cancer the fifth leading cause of cancer death among women in the United States. Within different subtypes of ovarian cancer, high-grade serous ovarian cancer (HGSC) is not only the most common type but also the deadliest. Inheritance of one defective copy of either of the two breast cancer susceptibility genes…

Research News

Oral Contraceptives Associated with Lower Ovarian Cancer Risk in BRCA Mutation Carriers

A study published in the American Journal of Obstetrics & Gynecology provides new insight into previously established research that oral contraceptive use is connected to lower ovarian cancer risk in the general population, by more closely examining the link among BRCA1 and BRCA2 mutation carriers. Scientists have long known that oral contraceptive use, particularly long-term use…

Science Made Simple BRCA Mutations

Science Made Simple: BRCA Mutations

We are all made up of genes. They are the building blocks of what make us human, and scientists are discovering new functions of genes every day. Some genes determine hair color or eye color. Some even determine whether we can make that clover shape with our tongue (truly a miracle of nature). And some control the ways in which our body fights off diseases…

The BRCA1-A as a Determinant of Chemotherapy Response in ATM Mutated Cells

Cancer cells display uncontrollable growth and high genetic instability. These properties usually result from the cancer cells disabling internal mechanisms of growth control by acquiring mutations that disrupt genes that limit cellular proliferation and repair DNA damage in order to maintain genome integrity. Many of the genes targeted by mutation in cancers are therefore called oncosuppresors…

Should You Be Tested for BRCA Mutations? New Guidelines

(August 22, 2019) This week, The US Preventive Services Task Force published new recommendations on risk assessment, genetic counseling, and genetic testing for BRCA mutations and BRCA-related cancers. The US Preventive Services Task Force (USPSTF) makes recommendations about the effectiveness of specific preventive care services for patients without obvious related signs or symptoms. It bases its recommendations on the evidence of both the benefits and harms of the service and an assessment of the balance…

Examining the Role of RNF168 in BRCA1 Mutant Ovarian Cancer

Hereditary mutations in the BRCA1 gene predispose carriers to ovarian cancer. The BRCA1 protein is involved in repairing DNA damage induced by chemotherapies such as platinum and PARP inhibitors (PARPi) using a DNA repair process known as homologous recombination. BRCA1 mutations often render the protein product dysfunctional, consequently tumors cannot repair DNA damage caused by chemotherapy…