PURPOSE: : Approximately 5-10% of patients who undergo genetic testing of BRCA1 and BRCA2 receive a variant of unknown significance (VUS) result. The ambiguous nature of a VUS may increase difficulty in patient understanding and decision making regarding risk reduction and surveillance options, including cancer risk-reducing surgeries. VUS reclassification to benign or deleterious may occur in time; however, clinical decisions may need to be made expeditiously, and some patients may pursue irreversible treatments before VUS reclassification. METHODS: : We reviewed the surgical decisions of 107 women postdisclosure of a BRCA VUS result counseled at our institute between 1998 and 2009. CONCLUSION: : Among women receiving a BRCA VUS result at our center, 11 of 107 (10.3%) pursued cancer risk-reducing mastectomy and 22 of 107 (20.6%) pursued cancer risk-reducing bilateral salpingo-oophorectomy. Reclassification of VUS occurred up to 9 years after testing, and 5 of 22 (22.7%) women followed up for 8 or more years continue to have a VUS result. We discuss considerations for providers of genetic services to discuss with patients who receive a VUS result.
PURPOSE: : Approximately 5-10% of patients who undergo genetic testing of BRCA1 and BRCA2 receive a variant of unknown significance (VUS) result. The ambiguous nature of a VUS may increase difficulty in patient understanding and decision making regarding risk reduction and surveillance options, including cancer risk-reducing surgeries. VUS reclassification to benign or deleterious may occur in time; however, clinical decisions may need to be made expeditiously, and some patients may pursue irreversible treatments before VUS reclassification. METHODS: : We reviewed the surgical decisions of 107 women postdisclosure of a BRCA VUS result counseled at our institute between 1998 and 2009. CONCLUSION: : Among women receiving a BRCA VUS result at our center, 11 of 107 (10.3%) pursued cancer risk-reducing mastectomy and 22 of 107 (20.6%) pursued cancer risk-reducing bilateral salpingo-oophorectomy. Reclassification of VUS occurred up to 9 years after testing, and 5 of 22 (22.7%) women followed up for 8 or more years continue to have a VUS result. We discuss considerations for providers of genetic services to discuss with patients who receive a VUS result.
Authors: Lea M Starita; Muhtadi M Islam; Tapahsama Banerjee; Aleksandra I Adamovich; Justin Gullingsrud; Stanley Fields; Jay Shendure; Jeffrey D Parvin Journal: Am J Hum Genet Date: 2018-09-12 Impact factor: 11.025
Authors: Thomas P Slavin; Lily R Van Tongeren; Carolyn E Behrendt; Ilana Solomon; Christina Rybak; Bita Nehoray; Lili Kuzmich; Mariana Niell-Swiller; Kathleen R Blazer; Shu Tao; Kai Yang; Julie O Culver; Sharon Sand; Danielle Castillo; Josef Herzog; Stacy W Gray; Jeffrey N Weitzel Journal: J Natl Cancer Inst Date: 2018-10-01 Impact factor: 13.506
Authors: Andrea K Miyahira; Adam Sharp; Leigh Ellis; Jennifer Jones; Salma Kaochar; H Benjamin Larman; David A Quigley; Huihui Ye; Jonathan W Simons; Kenneth J Pienta; Howard R Soule Journal: Prostate Date: 2019-12-11 Impact factor: 4.104