oncology,BRCA1/2 testing,health equityAlthough most cancers are sporadic, a significant proportion are related to inherited cancer-causing genes called pathogenic germline variants (PGVs). There are recommended measures for prevention and earlier diagnosis of cancers in patients identified as BRCA1 and...
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 ...
BRCA1andBRCA2are tumor suppressor genes that when mutated place a patient at higher risk of breast and ovarian cancer. Genetic testing can be performed to evaluate for the presence of aBRCA1orBRCA2mutation. Patients with a strong family history of breast and ovarian cancer may benefit from gen...
Optimal selection for BRCA1 and BRCA2 mutation testing using a combination of `easy to apply' probability models. Br J Cancer 2006;95:757-62.Bodmer D, Ligtenberg MJ, van der Hout AH, Gloudemans S, Ansink K, Oosterwijk JC, et al. Optimal selection for BRCA1 and BRCA2 mutation testing...
In the ten years since the discovery of BRCA1 and BRCA2, genetic testing for breast and ovarian cancer susceptibility has become integrated into the practice of clinical oncology. Attempts to identify a third breast cancer susceptibility locus (BRCA3) have so far been unsuccessful. This is probab...
Journal of Genetic Counseling (2018) 27:1459–1472 https://doi.org/10.1007/s10897-018-0261-5 ORIGINAL RESEARCH Patients' Views of Treatment-Focused Genetic Testing (TFGT): Some Lessons for the Mainstreaming of BRCA1 and BRCA2 Testing Sarah Wright1 & Mary Porteous2 & Diane Stirling2 & ...
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
molecular diagnosis; genetic testing; breast cancer; ovarian cancer; NGS; BRCA1/2 genes1. Introduction Germline pathogenic variants (PVs) in the BRCA1 and BRCA2 genes confer a significantly increased lifetime risk for the development of both breast and ovarian cancer. For BRCA1, the assessed ...
Presymptomatic testing for BRCA1 and BRCA2:how distressing are the pre-test weeks?L N Lodder, P G Frets, R W Trijsburg, E J Meijers-Heijboer, J G M Klijn,H J Duivenvoorden, A Tibben, A Wagner, C A van der Meer, P Devilee, C J Cornelisse,M F Niermeijer, and other members...
(PARP), owing to the ability of these interventions to inhibit DNA repair pathways.BRCA1/2 mutation testing thus has important and expanding roles in treatment planning for subsets of patients with breast cancer. Recent studies have demonstrated different activity of platinum salts inBRCA-mutated ...