Since the discovery of the familial breast cancer susceptibility genes BRCA1 and BRCA2, genetic counseling and molecular analysis in the identification of mutations responsible for the increased risk of breast and ovarian cancer have become crucial steps in the clinical practice. In fact, the ...
Testing for germlineBRCA1/2 mutations has an established predictive role in breast cancer risk assessment. More recently, studies have also identifiedBRCA1/2 status as clinically relevant in the selection of therapy for patients already diagnosed with breast cancer. Emerging breast and ovarian cancer ...
This review evaluates current research on the treatment ofBRCA-associated BC, and highlights the importance ofBRCA1/2m testing to help identify patients with BC who might benefit from platinum-based chemotherapy, as well as treatment with poly(ADP-ribose) polymerase inhibitors (PARPi). The biologic...
Informed Consent for BRCA1 and BRCA2 Testing.While the cloning of BRCA1 and BRCA2 in 1994 and 1995 engendered great enthusiasm from cancer patients, their families and physicians, concerns about potential problems faced by those undergoing genetic testing were also evident. Although much can be ...
from genetic counselling and risk-reducing strategies; (2) update germline and tumour-testing indications for PARPi-approved therapies; (3) provide testing recommendations for personalised management of early and metastatic breast cancer; and (4) address the issues of rapid process and tumour analysis...
Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: A report on the College of American Pathologists proficiency testing surveys. Genet. Med. 2015, 17, 58-62. [CrossRef] [PubMed]Tafe LJ, Datto MB, Palomaki GE, Lacbawan FL (2015) Molecular testing for the BRCA...
Testing for BRCA1 and BRCA2 should focus solely on unambiguously loss-of-function mutations with definitive effect on cancer risk. With modern genomics tools, it is possible to identify all variants in any gene. The challenge is not identification, but interpretation, of making sense of what is...
Testing for inherited susceptibility to breast cancer: A survey of informed consent forms for BRCA1 and BRCA2 mutation testing The identification of genetic mutations linked to breast cancer has made it possible to test for the genetic predisposition to this disease. However, thoug... SJ Durfy,...
BRCA1/2 testing in patients with breast and ovarian cancerbreast neoplasmsovarian neoplasmsgenetic techniques...doi:10.2298/AOO0203239PJelica PeroviMirjana Brankovi-MagiRadmila JankoviInstitute of Oncology Sremska KamenicaArchive of Oncology
Evidence-Based Surgical Hypothesis The case against BRCA 1 and 2 testingFig 2. The 3 accepted prevention strategies include surveillance (routine or enhanced), prophylactic or preemptive mastectomy, and/or chemoprevention. The combined anxiety of the patient and physician, based on the patient's ...