BRCA1andBRCA2Mutation Testing in Young Women With Breast Cancer

Abstract

Importance BRCA testing is recommended for young women diagnosed with breast cancer, but little is known about decisions surrounding testing and how results may influence treatment decisions in young patients. Objective To characterize genetic testing patterns of utilization and the impact on treatment decision-making among young women with breast cancer. Design Cross-sectional analysis of data collected between November 2006 and December 2014 as part of the Young Women's Breast Cancer Study, an ongoing prospective cohort study. Setting Eleven academic and community medical centers. Participants 897 women, age 40 and younger at breast cancer diagnosis. Main outcome measures 1) Frequency and trends in the utilization of BRCA testing; 2) how genetic information is used to make treatment decisions among women who test positive vs. test negative for a BRCA mutation. Results 87% of women reported BRCA testing by one year post-diagnosis, with the frequency of testing increasing among women diagnosed between 2006 and 2013 from 77% to 95%. Among untested women, 27% (32/117) did not report discussion of the possibility that they might have a mutation with a provider, and 37% (43 /117) were thinking of testing in the future. Approximately 30% (248/831) of women said that knowledge or concern about genetic risk influenced treatment decisions; among these women, 86% of mutation carriers, and 51% of non-carriers chose bilateral mastectomy. Fewer women reported that adjuvant treatment decisions were influenced by genetic risk concern. Conclusions and relevance Rates of BRCA1 and 2 mutation testing are increasing in young women with breast cancer. Given that knowledge/concern about genetic risk influences surgical decisions and may affect systemic therapy trial eligibility, all young breast cancer patients should be counseled and offered genetic testing, consistent with NCCN guidelines.

DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessment

“…Notably, competition in the market-place has helped make testing more affordable. Collectively, these events have led to increased rates of individuals being tested for mutations in BRCA1 and BRCA2 ,20 and an increased need for interpreting the significance of variants that are identified.…”

Az örökletes emlőrák szűrésének, megelőzésének és kezelésének új nemzetközi irányvonalai – hazai vonatkozásokkal

“…A jövő-ben lehetőség nyílhat BRCA1/BRCA2/TP53 mutáció kimutatására az emlőrák diagnózisát követő 4 héten belül, az erre vonatkozó klinikai vizsgálatok folyamatban vannak [7,8]. A gyorsított genetikai diagnózis azonban nagy mennyiségű és jelentőségű további információ feldolgozását igényelheti a betegtől, amely nem feltétlenül felel meg minden betegnek, hiszen sokan alkatilag is nehezen küzdenek meg az emlőrák diagnózisával [9].…”

Effects of Teucrium polium L. and Teucrium montanum L.: Extracts on mechanisms of apoptosis in breast and colon cancer cells

“…Breast cancer is the most common malignant tumor in women. Research shows that women with mutation in the BRCA1 or BRCA2 gene have 45-85% chance to be affected by tumor (ROSENBERG et al 2016). The risk of development of this type of cancer increases with age (the largest in the period between 40 and 50 years) (BORANIĆ et al 2006).…”