US Preventive Services Task Force Breast Cancer Recommendation Statement on Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer

Management of patients with BRCA mutation from the point of view of a breast surgeon

“…There are psychosocial issues to be addressed in relation to testing but women who have been tested do not regret their decision to test even if their test reveals BRCA mutation [ 67 ]. Generally it is suggested that the threshold for genetic testing is a 10% likelihood of detecting a mutation based on different risk modelling tools like BOADICEA ( https://ccge.medschl.cam.ac.uk/boadicea/ ), BRCAPRO ( https://projects.iq.harvard.edu/bayesmendel/brcapro ), Myriad ( https://myriad.com/products-services/hereditary-cancers/bracanalysis/ ), the Tyrer-Cuzick Model Breast Cancer Risk Evaluation Tool ( https://ibis.ikonopedia.com/ ) [ 68 ] and the Manchester scoring system ( https://www.health-atlas.de/models/2 ) [ 69 , 70 ]. Indications for increased risk of having a genetic mutation associated with breast cancer is shown in Box 1 .…”

Oncologic anthropology: Global variations in breast cancer risk, biology, and outcome

“…Founder mutations in the BRCA genes have been identified in association with different race/ethnicities across nearly all parts of the world, including European, South American, Central American, North American, Asian, and African populations 43–54 . Disparities in genetic testing have been well‐documented in the United States, with disproportionately low rates among African Americans, and this has resulted in higher frequencies of Variants of Uncertain Significance detected in this population subset 55–61 . This clinical care disparity is alarming because the majority of BRCA1 mutation‐associated breast cancers are TNBC, and African ancestry is associated with higher TNBC risk.…”

“…[43][44][45][46][47][48][49][50][51][52][53][54] Disparities in genetic testing have been well-documented in the United States, with disproportionately low rates among African Americans, and this has resulted in higher frequencies of Variants of Uncertain Significance detected in this population subset. [55][56][57][58][59][60][61] This clinical care disparity is alarming because the majority of BRCA1 mutation-associated breast cancers are TNBC, and African ancestry is associated with higher TNBC risk. It also has clinical relevance, because pathogenic BRCA mutations (but not VUSs) influence eligibility for PARP inhibitor therapy.…”