Search Results for brca

Researcher in lab coat holding up experiment

Big Strides Made in Identifying More BRCA1 Mutations

(September 19, 2018) Researchers at the University of Washington recently made a breakthrough in identifying and confirming variants of the BRCA1 mutation, a gene mutation that increases a woman’s risk of breast and ovarian cancers. Although the most common BRCA1 and BRCA2 mutations are already known to increase risk, there are thousands of variants of those genes that were previously considered “of unknown significance;” this new work characterizes these genetic mutation as either disease-causing or benign…

Non-BRCA Genes Associated with Breast and Ovarian Cancers Identified and Confirmed

(August 24, 2018) A recent study, published in JAMA Oncology, shed light on non-BRCA gene associations to breast and ovarian cancers. Researchers discovered new genes and confirmed previously existing evidence by conducting a whole-exome analysis of 11,416 patients with breast, ovarian, or both cancers and compared them with 3,988 people in a control group in 2014 and 2015…

Hormone Replacement Therapy After Oophorectomy Is Not Shown to Increase Risk of Breast Cancer in BRCA1 Mutation Carriers

(May 4, 2018) JAMA Oncology recently published a study that looked at the risk of breast cancer in BRCA1 carriers who underwent a prophylactic bilateral salpingo-oophorectomy, a surgery that removes both ovaries before any sign of disease, followed by hormone replacement therapy (HRT). Eight hundred and seventy two women were followed for around 7.5 years after their surgery and 92 of them…

Ovarian Cancer Risk and BRCA1 Methylation

(January 31, 2018) A study published in the Annals of Internal Medicine explains that researchers now believe that the methylation of normal BRCA1 gene promotion, not solely BRCA1 mutation, is a risk factor for ovarian cancer. Methylation can be detrimental because it blocks a gene from being transcribed, which means that it can’t repair any DNA damage…

Inhibition of Metastasis in BRCA2-associated Ovarian Cancers

In the 1990s, 40% of women with epithelial ovarian cancer (by far the most common type of ovarian cancer) lived for five years after their cancer was discovered. Despite many years of work by researchers all over the world, today the percentage of women surviving five years has only increased to 46%. The high rate of ovarian cancer death is largely because most patients are initially diagnosed after their cancer has already spread to other sites in the body…

The Link Between Chemotherapy Resistance and a Tumor’s BRCA1/2 Mutations

(September 5, 2017) Researchers at the University of Pennsylvania recently uncovered a link between one’s resistance to common types of chemotherapy and one’s tumor BRCA1/2 mutation status. More specifically, they looked at both copies of the BRCA genes, one copy given by each parent. Until recently, it had been assumed that mutated BRCA gene left the non-mutated gene defunct…

Age-Specific Risk in Women with BRCA1 and BRCA2 Mutations

(June 30, 2017) Ten thousand women, most of whom are BRCA1 or BRCA2 positive, were analyzed by the University of Cambridge in order to find age specific risk for breast and ovarian cancers. The goal of the study, which was published in the Journal of the American Medical Association (JAMA), was to better enable clinicians to estimate the benefit of risk reducing or preventive strategies…

BRCA-Independent DNA Repair Pathways in Ovarian Cancer

DNA within human cells is continuously subject to various damaging agents. These agents often cause DNA double-strand breaks (DSBs), which can be repaired by a process known as homology-directed repair (HDR). Proteins encoded by the tumor suppressor genes, Brca1 and Brca2, play an essential role in performing HDR with high-fidelity. Mutations in Brca1 or Brca2 confer an approximately 11-40% lifetime risk of developing ovarian cancer…

Rucaparib FDA Approved for Advanced Ovarian Cancer with BRCA Mutations

(Dec. 19, 2016) The U.S. Food and Drug Administration today granted accelerated approval to Rubraca (rucaparib) to treat women with a certain type of ovarian cancer. Rubraca is approved for women with advanced ovarian cancer who have been treated with two or more chemotherapies and whose tumors have a specific gene mutation (deleterious BRCA) as identified by an FDA-approved companion diagnostic test…

Modeling Mullarian HGSC Using BRCA1 Patient Derived iPSCs

High grade serous cancer (HGSC) is the most common and malignant form of ovarian cancer with the highest incidence of mortality. Recent clinical and molecular studies strongly suggest that HGSC originates not from the ovary, but from the neighboring fallopian tube epithelia. While the discovery of an extra ovarian origin is a fundamental step toward improving detection and treatment…

Defining the Molecular Mechanisms of BRCA1-dependent Tumor Suppression

Ovarian cancer is a disease in which ovarian cells grow aberrantly to form a tumoral mass that can eventually evolve into a metastatic disease often incurable with current therapies. There are a number of known risk factors for ovarian cancer development including age, hormonal, reproductive and menstrual history. However, the most prominent risk factor is having a familial history of ovarian cancer and approximately 25% of all ovarian cancer cases can be attributed to hereditary factors…